16p12.2-p11.2CNV Type: Duplication
Largest CNV size: 7175000 bp
Statistics Box:
Number of Reports: 14
Number of Reports: 14
Summary Information
A large duplication starting at the 16p12.2 locus and ending at the 16p11.2 locus was identified in an autistic male. Among the >30 genes that lie within this duplication is PRKCB1, a gene that associates with autism in some studies.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Duplication
16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.
Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour.
Duplication
Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
barber_12_ASD_discovery_cases
Two patients with cytogenetically visible duplications of 16p12.2-p11.2 (male patient is in DECIPHER database as patient 2131)
2
Female case diagnosed with autism (using ADI-R). Male case not regarded as having autism, but displays autistic features. Both cases with intellectual disability.
Range, 18-45 yrs.
50% Male
7810000
0
2
2
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
8200000
1
0
1
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
7983169
1
0
1
finelli_04_ASD_discovery_cases
2 patients with 16p12.2-p11.2 duplications (1 of these patients was previously reported in Engelen et al. 2002 report as having a 16p12.1-p11.2 duplication)
2
1 case with diagnosis of autism, severe mental retardation, and epilepsy. 1 case with borderline cognitive impairment and behavioral problems.
Range, 5-25 yrs.
50% Male
8000000
0
2
2
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
7802038
1
0
1
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
7570000
20
14
34
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
7785840
1
2
3
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
6604254
0
1
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
7500000
1
0
1
miclea_22_DD/ID_discovery_cases
Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.
189
Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.
Range, 1-18 yrs.
51.85% Male
8587349
0
1
1
okamoto_13_DD/ID/ASD_discovery_cases
Japanese patients (1 male, 1 female) with 16p12.2-p11.2 CNVs
2
Both patients with developmental delay/intellectual disability; one case with additional diagnosis of ASD (according to DSM-IV criteria)
Range, 3-9 yrs.
50% Male
7700000
1
1
2
sandoval_talamantes_23_ASD_discovery_cases
ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
212
All cases met DSM-5 diagnostic criteria for ASD.
Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
87.73% Male
7707138
0
1
1
tabet_12_ASD_discovery_cases
Three affected siblings from an autism multiplex family born to non-consanguineous parents.
3
Autism. Diagnosis based on ADI-R, ADOS, and CARS evaluations.
Range, 17 yrs. 6 mos.-21 yrs.
100% Male
8950000
0
2
2
wang_10_ASD_discovery_cases
ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
103
ASD (according to DSM-IV criteria)
Mean, 21.5 10.3
78.6% Male
7175000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
7570000
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
barber_12_ASD_discovery_cases
Female case Caucasian; male case NA
G-banded karyotyping, FISH
aCGH (Agilent 4X44K)
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
finelli_04_ASD_discovery_cases
NA
G-banded karyotyping, FISH
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
miclea_22_DD/ID_discovery_cases
Romania
Solid phase hybridization
Illumina Infinium OmniExpress-24 BeadChip
NA
Illumina GenomeStudio v.2.0.
None
okamoto_13_DD/ID/ASD_discovery_cases
Japanese
Array SNP
Affymetrix Cytoscan HD
Affymetrix ChAS
FISH
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
None
tabet_12_ASD_discovery_cases
Mixed ethnic background (father Caucasian, mother from Mauritius)
G-banded karyotyping, FISH
Array SNP, qPCR
wang_10_ASD_discovery_cases
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
barber_12_ASD_discovery_cases-case1
18 yrs.
F
Autism
Diagnosis of autism at age of 16 years 9 months (based on ADI-R assessment). Birth/neonatal history: pregnancy complicated by hyperemesis; born at 36 weeks gestation by spontaneous vaginal delivery weight 2920 g (90th %ile); neonatal jaundice; feeding difficulties (poor suck, needed walking for feeds); poor weight gain and lactose intolerance. Developmental milestones: sat at 8 months; walked at 13 months; had four words with meaning at 18 months; weaning to solid food achieved by 3 years of age. Motor and musculoskeletal evaluation: poor balance and coordination, hypermobile fingers, bilateral medial bony protuberances near ankles, postural kyphosis. Behavioral/psychiatric evaluation: fixed and repetitive behavior noted early; difficulties with non-verbal regulation of social interaction and development of peer relationships; lack of shared enjoyment and socio-emotional reciprocity; difficulty initiating & sustaining conservation in a reciprocal way; some stereotyped and repetitive speech; lack of social awareness to avoid asking inappropriate things at inappropriate times; difficulties with minor changes in routine or environment had improved with age; had been verbally and physically aggressive towards brother and peers at times due to frustation at not being able to do things alone. Epilepsy/seizures: vacant staring episodes, but no seizures. EEG: normal. Sleep disturbances: poor sleeper in childhood but this improved after age of 12. Recurrent infections: asthmatic during infacny and prone to respiratory tract infections, but had outgrown this by 9 years of age; had otitis media for which grommets were inserted at 3 years of age. Dysmorphic features: prominent glabella, heavy eyebrows, synophrys, slight ptosis, left convergent squint, broad nasal bridge, upturned nose with slightly bulbous tip, bow-shaped upper lip, full everted lower lip, prominent upper incisors, dental crowding, overfolded helices, tapering fingers with brachydactyly, squared-off finger tips, prominent foetal finger pads, flat feet. Growth parameters (at 15 yrs.): height, 158.2 cm (<25th %ile); weight, 48 kg (<25th %ile); OFC, 55 cm (<50th %ile). Family history: first child of healthy unrelated Caucasian patients (parental chromosomes normal); younger brother with normal development.
Moderate intellectual disability. Ruth Griffiths assessment at 51 months of age showed mental age results raning from 28-40 months (sub quotient 55-78). From 5 years of age attended special school for moderate learning difficulties, has been attending a transitional college since 16 years of age.
21602183
29314324
7712142
GRCh38
Duplication
Yes
barber_12_ASD_discovery_cases-case2
45 yrs.
M
Intellectual disability and autistic features
DECIPHER patient 2131. Birth/neonatal history: full-term normal delivery with good birth weight and no very early health concerns. Developmental milestones: a little late to walk; markedly delayed speech. Language and communication evaluation: can now read well; poor writing. Behavioral/psychiatric evaluation: generally good-natured; some obsessive behavior; not regarded as having had autism. Other medical concerns and comorbidities: generally healthy as a child but did have one episode of unexplained hypercalcemia; as an dult has been well other than recurrent rectal prolapse. Dysmorphic features: wide mouth, large furrowed tongue, broad alveolar margins, broad hands with generalized brachydactyly, untapered digits; large lipoma on back, freckling on palms and soles. Growth parameters: short stature, average build; height of 158 cm (0.4th %ile), OFC 59 cm (98th %ile). Family history: paternal chromosomes normal; no other information.
Intellectual disability
21463739
29272705
7808967
GRCh38
Duplication
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case37
7 yrs. 6 mos.
F
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Moderate DD/ID
21463739
29662692
8198954
GRCh38
Deletion
Yes
chaves_19_ASD/DD/ID_discovery_cases-case69
N/A
M
ASD
DIL, autism, speech and/or language delay or impairment, hyperactivity and facial dysmorphism
21394006
29377174
7983169
GRCh38
Deletion
No
finelli_04_ASD_discovery_cases-patient1
25 yrs.
M
Autism
Diagnosed with autism at 3 years of age; psychiatric evaluation at 25 years of age confirmed diagnosis of autism. Birth/neonatal history: first son of unrelated parents, born at term with weight in 3rd %ile. Developmental milestones: psychomotor delays noted in first months of life; unassisted walking at 8 years; 1st words and word approximations at 10 years. Language and communication skills: impaired communication skills; uses 8 words or word approximations on a daily basis without attaching meaning to them; understands simple, highly contextualized messages. Motor skills: limited. Behavioral/psychiatric characterization: impaired social interaction (poor eye contact, acts in a predictable stereotypic manner when meeting new people); restricted, repetitive, and stereotyped behavior and interests (engages in repetitve actions when left alone); short attention span; hyperactivity. Epilepsy/seizures: febrile and epileptic seizures in infancy and chilhood, diagnosed with epilepsy at 3 years; seizures successfully controlled by phenobarbital, which was interrupted at 20 years. EEG: diffuse epileptic pattern. Neurological examination: ataxic gait, bilateral club foot. Brain MRI: slight ventricular dilatation and moderate diffuse cortical atrophy. Recurrent infections: recurrent episodes of bronchitis, otitis, and gastroenteritis in infancy and childhood. Dysmorphic features: asymmetric and squared face, bitemporal constriction, hypertelorism, broad nasal bridge, broad nasal tip with prominent columnella, short philtrum, long ears, large mouth with thick lips, large & irregular teeth. Growth parameters: height, 151 cm (<3rd %ile); weight, 42 kg (<3rd %ile); OFC, 54 cm (25th %ile). Family history: father suffered from alcohol misuse and left family when patient was 12 (no CNV analysis); younger brother with behavioral problems (no CNV analysis); sister with epilepsy and normal brain MRI (no indication of ASD; lacks 16p12.2-p11.2 duplication).
Diagnosed with severe mental retardation (IQ between 25-39) at 3 years of age. Good memory.
NA (approximate start of 21591588, based on RP11-98D10 FISH probe)
NA (approximate end of 29538835, based on RP11-368N21 FISH probe)
8000000
NCBI34
Duplication
No
finelli_04_ASD_discovery_cases-patient2
5 yrs.
F
Autistic features
Partially satisfies DSM-IV criteria for autism (does not show repetitive and stereotyped behavioral patterns or restricted interests). Birth/neonatal history: born at term after uncomplicated pregnancy and delivery. Developmental milestones: normal in 1st year; speech development slow, but within normal limits; developmental problems increasingly clear by 2 years. Language and communication evaluation: normal verbal understanding, poor active language and echolalia. Behavioral/psychiatric characteristics: stubborness, unwilling behavior, poor acceptation or roders, difficulty in handling for stepparents, poor social contact and interaction; behavior improved with structured day program. Dysmorphic features: up-slanting palpebral fissures. Growth parameters: weight, 16.3 kg (50th %ile); height, 103 cm (3rd %ile); head circumference, 49 cm (3rd %ile). Family history: mother with difficulties in attention and concentration, echolalia, mild mental retardation and non-verbal learning disabilities, and anxiety disorder secondary to social adaptation problems and social incompetence. Note: some information in clinical profile derived from Engelen et al. 2002 report.
Borderline cognitive impairment (IQ of 80)
NA (approximate start of 21591588, based on RP11-98D10 FISH probe)
NA (approximate end of 29538835, based on RP11-368N21 FISH probe)
8000000
NCBI34
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259342
N/A
F
Developmental delay
Microcephaly; Intrauterine growth retardation; Global developmental delay; Abnormal size of the palpebral fissures; Prominent nose; Short 4th metacarpal; Clinodactyly of the 5th finger; Cutaneous syndactyly of toes; Aggressive behavior
21518886
29320924
7802039
GRCh38
Deletion
No
girirajan_12_ASD/DD/ID_discovery_cases-case0989
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0990
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0991
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0992
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0993
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0994
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0995
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0996
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0997
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0998
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0999
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1000
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1001
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1002
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1003
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1004
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1005
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1006
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1007
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1008
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1009
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1010
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1011
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1012
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1013
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1014
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1015
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1016
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1017
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1018
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1019
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1020
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1021
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1022
NA
NA
Developmental delay
NA
NA
21521178
29091178
7570001
GRCh38
Duplication
NA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005149
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21600992
28323344
6722353
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005169
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21463739
29249579
7785841
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005198
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21602183
29314373
7712191
GRCh38
Duplication
Yes
mahjani_21_ASD_discovery_cases-case160
NA
F
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
22710986
29315239
6604254
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown52
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
21370679
28937679
7567001
GRCh38
Deletion
No
miclea_22_DD/ID_discovery_cases-case156
NA
NA
Developmental delay and intellectual disability
Global developmental delay, dysmorphic features
Intellectual disability
21599482
30186830
8587349
GRCh38
Duplication
No
okamoto_13_DD/ID/ASD_discovery_cases-patient1
3 yrs.
M
DD/ID
Birth/neonatal history: uncomplicated pregnancy; born at 37 weeks gestation by induced delivery; birth weight of 1770 g (25th %ile) and length og 53 cm (90th %ile); cardiac murmur noted after birth. Developmental milestones: delayed developmental milestones: displayed hypotonia; head control achieved at 10 months of age; sat unsupported at 2 years of age; independent walking not possible; spoke no meaningful words. Behavioral/psychiatric evalaution: no autistic features observed. Cardiac defects: ventricular septal defect noted by echocardiography (cardiac surgery carried out successfully at age of 6 months). Vision and hearing: normal. Other features: feeding difficulties, recurrent ear infections. Dysmorphic features: flat face, downslanting palpebral fissures, low-set posteriorly rotated ears, thin upper lip vermillion. Growth parameters: weight of 9.3 kg (-1.9 SD), length of 82.6 cm (-0.9 SD), head circumference of 46.5 cm (-1.1 SD). Family history: first-born child of 26-year-old mother and 30-year-old father, both healthy and non-consanguineous.
Developmental delay/intellectual disability; global development quotient was 20 at age of 2 years.
21294835
29041932
7747098
GRCh38
Deletion
Yes
okamoto_13_DD/ID/ASD_discovery_cases-patient2
9 yrs.
F
ASD and DD/ID
Birth/neonatal history: born at 38 weeks gestation; birth weight of 3200 g. Developmental milestones: delay in gross development; started to walk independently at 18 months old; delayed development in speech and social interaction. Behavioral/psychiatric evaluation: diagnosed with ASD at age of 4 years; again diagnosed with ASD according to DSM-IV criteria at 9 years of age; difficulties with daily activities, impaired social interaction, poor social skills, strict adherence to routine behaviors. Epilepsy/seizures: none. EEG: epileptic discharges. Brain imaging: normal brain MRI. Dysmorphic features: round face, flat nasal bridge, full cheeks, wide philtrum, wide mouth, pointed chin, low-set ears, fetal pads on fingers and toes, generalized hypertrichosis; relative macrocephaly. Growth parameters: height of 119 cm (-2.3 SD), weight of 22. kg (-1.2 SD), and head circumference of 54.2 cm (+1.5 SD). Family history: born to non-consanguineous healthy Japanese parents; unremarkable family history.
Mild intellectual disability; DQ of 76 according to standard Japanese method.
21505045
28222799
6717755
GRCh38
Duplication
Yes
sandoval_talamantes_23_ASD_discovery_cases-caseAUT24
NA
NA
ASD and seizures
Case met DSM-5 diagnostic criteria for ASD. Case also presented with seizures and plagiocephaly.
21463738
29170875
7707138
GRCh38
Duplication
No
tabet_12_ASD_discovery_cases-patient2
17 yrs. 6 mos.
M
Autism
Clinical diagnosis of autism. ADI-R evaluation (at 3 yrs. 2 mos.): social score, 23; communication score, 14 (non-verbal); repetitive behavior, 4; onset, 4; diagnosis of autism. ADOS module 1 evaluation (at 18 yrs. 5 mos.): communication, 6; social interaction, 14; total; 20; play, 4; interesta and behavior, 8; diagnosis of autism. CARS evaluation (at 10 yrs. 3 mos.): composite score of 37; diagnosis of mild-moderate autism. VABS II evaluation (at 18 yrs. 5 mos.): communication, 11; daily living, 23; socialization, 1; maladaptive behaviors, 20. Developmental milestones: normal development followed by regression at 26 mo; language regression at 26 mo; non verbal. Neurological evaluation: hyporeflexia, no motor deficit. Other behaviors: not fully toilet trained, hyperactivity, short and agitated sleep . Brain MRI: white matter hyperintensities, moderate cortical atrophy and thin corpus callosum. Dysmorphic features & malformations: triangular face, broad forehead, prominent orbital ridge, deep set eyes, upslanting palpebral fissures, thick upslant eyebrows, myopia, strabismus, large, prominent nasal bridge, wide, bulbous tip, anteverted nares, everted lower lip, tented philtrum wide cupid's bow, overbite, retrognathia with marked chin, backward tilted ears, ventricular septal defect (VSD), slender habitus, sternum deformity, mild scoliosis, cubitus valgus, long fingers and toes, bilateral single palmar creases and sandal gap. Growth parameters: height, 173 cm (normal range); weight, 49 kg (-2 SD); head circumference, 55 cm (-1 SD). Recurrent infections: recurrent otitis, nose and throat infections in childhood. Family history: monozygotic twin brother with autism; older brother with autism; brother with severe intellectual disability and epilepsy who died at 42 yrs.; father declined neuropsychological evaluation but was described as being non-talkative, introverted, and having few social relationships; negative maternal personal and family history.
Severe intellectual disability. Ravens Colored Progressive Matrices (RCPM) at 18 yrs 4 mos.: full-scale IQ <1st %ile
21354234
30320882
8966649
GRCh38
Duplication
Yes
tabet_12_ASD_discovery_cases-patient3
18 yrs. 4 mos.
M
Autism
Clinical diagnosis of autism. ADI-R evaluation(at 3 yrs. 2 mos.): social score, 22; communication score, 13 (non-verbal); repetitive beahvior score, 3; onset score, 4; diagnosis of autism. ADOS module 1 evaluation (at 18 yrs. 5 mos.): communication, 6; social interaction, 13; total; 19; play, 4; interests and behaviors, 8; diagnosis of autism. CARS evaluation (at 10 yrs. 3 mos.): composite score of 38; diagnosis of severe autism. VABS II evaluation (at 18 yrs. 5 mos.): communication, 9; daily living, 21; socialization, 1; maladaptive behaviors, 23. Developmental milestones: normal development followed by regression at 24 mo; language regression at 24 mo; non verbal. Neurological evaluation: absent reflexes, no motor deficit. Other behaviors: not fully toilet trained, hyperactivity, aggressive behavior, self-injurious behavior, severe sleep disturbance. Brain MRI: white matter hyperintensities, moderate cortical atrophy and thin corpus callosum. Dysmorphic features & malformations: triangular face, broad forehead, prominent orbital ridge, deep set eyes, upslanting palpebral fissures, thick upslant eyebrows, myopia, strabismus, large, prominent nasal bridge, wide, bulbous tip, anteverted nares, everted lower lip, tented philtrum wide cupid's bow, overbite, retrognathia with marked chin, backward tilted ears, no heart defect, slender habitus, sternum deformity, mild scoliosis, cubitus valgus, long fingers and toes, bilateral single palmar creases and sandal gap. Growth parameters: height, 172 cm (normal range); weight, 55 kg (-1 SD); head circumference, 55 cm (-1 SD). Recurrent infections: recurrent otitis, nose and throat infections in childhood. Family history: monozygotic twin brother with autism; older brother with autism; brother with severe intellectual disability and epilepsy who died at 42 yrs.; father declined neuropsychological evaluation but was described as being non-talkative, introverted, and having few social relationships; negative maternal personal and family history.
Severe intellectual disability. Ravens Colored Progressive Matrices (RCPM) at 18 yrs 4 mos.: full-scale IQ <1st %ile
21354234
30320882
8966649
GRCh38
Duplication
Yes
wang_10_ASD_discovery_cases-AC0088
15
M
ASD
NA
NA
21563897
29315608
7751712
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
barber_12_ASD_discovery_cases-case1
aCGH (Agilent 4X44K)
De novo
Simplex
Possibly segregated
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,SNX29P2,LCMT1
barber_12_ASD_discovery_cases-case2
aCGH (Agilent 4X44K)
De novo
Unknown
Possibly segregated
MIR3680-1,SLC7A5P2,RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,SMG1P3,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
battaglia_13_DD/ID/ASD_discovery_cases-case37
FISH or qPCR
De novo
Unknown
Unknown
MIR3680-1,SLC7A5P2,RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,SMG1P3,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,NPIPB12,CA5AP1,MOSMO,USP31,PRKCB,NSMCE1,SBK1,SNX29P2,LCMT1
chaves_19_ASD/DD/ID_discovery_cases-case69
Unknown
MIR3680-1,SLC7A5P2,RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,NPIPB3,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,NSMCE1-DT,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,SMG1P3,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,TNRC6A,SLC5A11,LINC02191,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,SNX29P2,LCMT1
finelli_04_ASD_discovery_cases-patient1
Unknown (not maternal)
Possibly simplex for ASD, multiplex for behavioral problems (brother) and epilepsy (sister)
Unknown (possibly segregated with ASD, not segregated with epilepsy)
Est. gene content: DREV1,IGSF6,OTOA,LOC94431,UQCRC2,MGC50721,C16orf52,POLR3E,CDR2,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,KIAA1970,UBPH,NDUFAB1,FLJ21816,MGC3248,PLK1,ERN2,LOC63928,PRKCB1,CACNG3,RBBP6,FLJ45256,TNRC6A,SLC5A11,ARHGAP17,LCMT1,AQP8,ZNF694,HS3ST4,TNT,FLJ13798,NSMCE1,IL4R,IL21R,GTF3C1,KIAA0556,MGC18079,XPO6,EIF3S8,SULT1A1,SULT1A2,LOC112869,P8,IL27,APOB48R,CLN3,ATXN2L,TUFM,SH2B,ATP2A1,CD19,NFATC2IP,SPIN1,LAT,LAT1-3TM,GIYD2,SULT1A3,METTL9,PDZD9,VWA3A,EEF2K,LOC100132247,GGA2,EARS2,UBFD1,PALB2,DCTN5,CHP2,PRKCB,ZKSCAN2,C16orf82,JMJD5,GSG1L,SBK1,EIF3CL,EIF3C,CCDC101,NUPR1,APOBR,SH2B1,RABEP2,SPNS1,BOLA2B,BOLA2,SLX1A,SLX1B,SULT1A4
finelli_04_ASD_discovery_cases-patient2
Maternal
Simplex
Segregated
Est. gene content: DREV1,IGSF6,OTOA,LOC94431,UQCRC2,MGC50721,C16orf52,POLR3E,CDR2,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,KIAA1970,UBPH,NDUFAB1,FLJ21816,MGC3248,PLK1,ERN2,LOC63928,PRKCB1,CACNG3,RBBP6,FLJ45256,TNRC6A,SLC5A11,ARHGAP17,LCMT1,AQP8,ZNF694,HS3ST4,TNT,FLJ13798,NSMCE1,IL4R,IL21R,GTF3C1,KIAA0556,MGC18079,XPO6,EIF3S8,SULT1A1,SULT1A2,LOC112869,P8,IL27,APOB48R,CLN3,ATXN2L,TUFM,SH2B,ATP2A1,CD19,NFATC2IP,SPIN1,LAT,LAT1-3TM,GIYD2,SULT1A3,METTL9,PDZD9,VWA3A,EEF2K,LOC100132247,GGA2,EARS2,UBFD1,PALB2,DCTN5,CHP2,PRKCB,ZKSCAN2,C16orf82,JMJD5,GSG1L,SBK1,EIF3CL,EIF3C,CCDC101,NUPR1,APOBR,SH2B1,RABEP2,SPNS1,BOLA2B,BOLA2,SLX1A,SLX1B,SULT1A4
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259342
De novo
Simplex
Segregated
SLC7A5P2,RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,SMG1P3,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,SNX29P2,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case0989
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case0990
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case0991
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case0992
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case0993
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case0994
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case0995
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case0996
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case0997
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case0998
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case0999
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1000
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1001
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1002
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1003
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1004
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1005
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1006
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1007
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1008
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1009
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1010
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1011
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1012
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1013
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1014
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1015
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1016
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1017
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1018
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1019
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1020
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1021
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
girirajan_12_ASD/DD/ID_discovery_cases-case1022
NA
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005149
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005169
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR3680-1,SLC7A5P2,RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,SMG1P3,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005198
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,SNX29P2,LCMT1
mahjani_21_ASD_discovery_cases-case160
Unknown
CLN3,ATP2A1,AQP8,CD19,TNRC6A,LAT,NUPR1,LCMT1,IL21R,ARHGAP17,APOBR,UBFD1,USP31,RABEP2,KDM8,PALB2,CHP2,SPNS1,COG7,DCTN5,SGF29,NFATC2IP,EEF1A1P38,SLC5A11,EARS2,GSG1L,C16orf82,NSMCE1,HSPE1P16,GTF3C1,IL4R,LINC02175,IL21R-AS1,IL27,CYCSP39,ZKSCAN2,SBK1,NSMCE1-DT,LINC01567,CDC37P1,NPIPB7,CDC37P2,GAPDHP35,RRN3P2,HMGN2P3,NPIPB6,NPIPB8,EIF3CL,NPIPB10P,NDUFAB1,ATP2A1-AS1,SUB1P4,CCNYL7,SCML2P2,MIR548W,MIR4721,LCMT1-AS2,NPIPB9,MIR4517,RNA5SP405,PRKCB,RBBP6,PLK1,RNU7-24P,LCMT1-AS1,MIR6862-1,MIR1273H,MIR6862-2,LINC02194,LINC02195,LINC02191,LINC02129,RN7SKP23,SCNN1G,TUFM,SCNN1B,SULT1A1,SULT1A2,RNY1P10,RN7SL557P,TPRKBP2,RNU6-159P,RNU6-1241P,ZKSCAN2-DT,EIF3C,HS3ST4,HS3ST2,CACNG3,ATXN2L,ERN2,XPO6,SH2B1,KATNIP,GGA2
maini_18_ASD/DD/ID_discovery_cases-case_unknown52
De novo
Unknown
Unknown
MIR3680-1,SLC7A5P2,RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,SNX29P1,NPIPB3,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SMG1P3,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
miclea_22_DD/ID_discovery_cases-case156
Unknown
ATP2A1,CD19,AQP8,CA5AP1,CLN3,CDR2,ALDOA,TNRC6A,SEZ6L2,LAT,NUPR1,LCMT1,EEF2K,IL21R,METTL9,POLR3E,ARHGAP17,APOBR,UBFD1,USP31,SLX1B,GDPD3,PAGR1,RABEP2,KDM8,PALB2,CHP2,YPEL3,SPNS1,SLC7A5P1,TLCD3B,COG7,SGF29,NFATC2IP,DCTN5,PRRT2,SLC5A11,TMEM219,EEF1A1P38,EARS2,C16orf92,OTOA,GSG1L,VWA3A,HSPE1P16,NSMCE1,C16orf82,IL4R,GTF3C1,IL21R-AS1,IL27,KCTD13,ASPHD1,C16orf54,LINC02175,PDZD9,INO80E,ZKSCAN2,CYCSP39,SBK1,LINC01567,NSMCE1-DT,CDC37P1,CDR2-DT,NPIPB4,NPIPB12,NPIPB7,CDIPTOSP,SNX29P2,SMG1P2,SMG1P1,BOLA2,SULT1A4,GAPDHP35,CDC37P2,EIF3CL,ZG16,RRN3P2,NPIPB8,NPIPB11,HMGN2P3,NPIPB6,OTOAP1,NPIPB10P,RRN3P1,MOSMO,NDUFAB1,KIF22,MAZ,RRN3P3,NPIPB5,ATP2A1-AS1,SDR42E2,SUB1P4,CCNYL7,SCML2P2,SMG1P6,MIR548W,LCMT1-AS2,SLX1B-SULT1A4,MIR4721,SMG1P4,NPIPB9,MIR4517,RNA5SP405,MIR3680-2,RNU7-24P,PRKCB,PPP4C,RBBP6,PLK1,MAPK3,YPEL3-DT,MIR6862-2,MIR1273H,LCMT1-AS1,MIR6862-1,LINC02191,LINC02129,LINC02195,MFSD13B,LINC02194,RN7SKP23,SPN,TBX6,UQCRC2,TUFM,SULT1A2,SULT1A1,SCNN1G,SCNN1B,RNY1P10,RN7SL557P,RNU6-159P,TPRKBP2,RNU6-196P,RN7SKP127,RNU6-1241P,RNU6-1005P,CORO1A-AS1,BOLA2-SMG1P6,KCTD13-DT,ZKSCAN2-DT,HIRIP3,EIF3C,DOC2A,LINC02890,MVP,HS3ST4,TAOK2,HS3ST2,CORO1A,ERN2,IGSF6,CACNG3,ATXN2L,CDIPT,SH2B1,XPO6,QPRT,KATNIP,GGA2
okamoto_13_DD/ID/ASD_discovery_cases-patient1
FISH
De novo
Likely simplex
Likely segregated
MIR3680-1,SLC7A5P2,RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,CRYM,CRYM-AS1,SNX29P1,NPIPB3,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,SMG1P3,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,MOSMO,USP31,PRKCB,NSMCE1,SBK1,LCMT1
okamoto_13_DD/ID/ASD_discovery_cases-patient2
FISH
De novo
Likely simplex
Likely segregated
MIR3680-1,SLC7A5P2,RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,SMG1P3,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,MOSMO,USP31,PRKCB,NSMCE1,LCMT1
sandoval_talamantes_23_ASD_discovery_cases-caseAUT24
Unknown
ATP2A1,CD19,AQP8,CLN3,CDR2,TNRC6A,LAT,NUPR1,LCMT1,EEF2K,IL21R,METTL9,POLR3E,ARHGAP17,APOBR,UBFD1,USP31,RABEP2,KDM8,PALB2,CHP2,SPNS1,COG7,SGF29,NFATC2IP,DCTN5,SLC5A11,EEF1A1P38,EARS2,OTOA,GSG1L,VWA3A,HSPE1P16,NSMCE1,C16orf82,IL4R,GTF3C1,IL21R-AS1,IL27,LINC02175,PDZD9,ZKSCAN2,CYCSP39,SLC7A5P2,SBK1,LINC01567,NSMCE1-DT,CDC37P1,CDR2-DT,NPIPB4,NPIPB7,SMG1P1,GAPDHP35,CDC37P2,EIF3CL,RRN3P2,NPIPB8,HMGN2P3,NPIPB6,OTOAP1,NPIPB10P,RRN3P1,MOSMO,NDUFAB1,RRN3P3,NPIPB5,SMG1P3,ATP2A1-AS1,SDR42E2,SUB1P4,CCNYL7,SCML2P2,MIR3680-1,MIR548W,LCMT1-AS2,MIR4721,SMG1P4,NPIPB9,MIR4517,RNA5SP405,RNU7-24P,PRKCB,RBBP6,PLK1,MIR6862-2,MIR1273H,LCMT1-AS1,MIR6862-1,LINC02191,LINC02129,LINC02195,MFSD13B,LINC02194,RN7SKP23,UQCRC2,TUFM,SULT1A2,SULT1A1,SCNN1G,SCNN1B,RNY1P10,RN7SL557P,RNU6-159P,TPRKBP2,RNU6-196P,RNU6-1241P,RNU6-1005P,ZKSCAN2-DT,EIF3C,LINC02890,HS3ST4,HS3ST2,ERN2,IGSF6,CACNG3,ATXN2L,SH2B1,XPO6,KATNIP,GGA2
tabet_12_ASD_discovery_cases-patient2
Array SNP, qPCR
De novo
Multiplex
MIR3680-1,SLC7A5P2,RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SNX29P1,NPIPB3,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SMG1P3,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SMG1P5,MOSMO,USP31,PRKCB,NSMCE1,SBK1,SNX29P2,LCMT1
tabet_12_ASD_discovery_cases-patient3
qPCR
De novo
Multiplex
MIR3680-1,SLC7A5P2,RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,BOLA2,BOLA2-SMG1P6,SLX1B,SULT1A4,MIR3680-2,SLC7A5P1,SPN,RN7SKP127,C16orf54,ZG16,MAZ,PRRT2,CDIPT,HIRIP3,C16orf92,TBX6,YPEL3,MAPK3,CORO1A,BOLA2B,SULT1A3,SNX29P1,NPIPB3,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,NPIPB11,SMG1P6,SLX1B-SULT1A4,SMG1P2,QPRT,KIF22,PAGR1,MVP,CDIPTOSP,ASPHD1,KCTD13,TMEM219,TAOK2,INO80E,FAM57B,ALDOA,PPP4C,GDPD3,SLX1A,SLX1A-SULT1A3,NPIPB13,SMG1P3,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,NPIPB12,CA5AP1,SEZ6L2,DOC2A,SMG1P5,MOSMO,USP31,PRKCB,NSMCE1,SBK1,SNX29P2,LCMT1
wang_10_ASD_discovery_cases-AC0088
Unknown
NA
NA
RNU6-1005P,RNU6-196P,SUB1P4,PLK1,MIR1273H,RNU7-24P,LINC01567,SCML2P2,LCMT1-AS2,RN7SL557P,AQP8,ZKSCAN2-DT,LINC02191,CYCSP39,MIR548W,RNA5SP405,HMGN2P3,HSPE1P16,C16orf82,EEF1A1P38,IL21R-AS1,RNU6-159P,RNU6-1241P,TPRKBP2,RNY1P10,GAPDHP35,MIR6862-1,CDC37P2,APOBR,NUPR1,SULT1A2,CDC37P1,MIR6862-2,TUFM,MIR4721,ATP2A1-AS1,MIR4517,LAT,IGSF6,RRN3P1,NPIPB4,UQCRC2,PDZD9,SDR42E2,POLR3E,MFSD13B,RRN3P3,SMG1P1,NPIPB5,OTOAP1,HS3ST2,COG7,RN7SKP23,GGA2,EARS2,UBFD1,PALB2,DCTN5,ERN2,CHP2,CACNG3,RBBP6,ARHGAP17,LINC02175,LCMT1-AS1,ZKSCAN2,LINC02195,LINC02129,KDM8,IL4R,IL21R,NPIPB6,EIF3CL,NPIPB7,CLN3,IL27,SULT1A1,NPIPB8,NPIPB9,SH2B1,ATP2A1,RABEP2,CD19,SPNS1,NPIPB10P,METTL9,OTOA,SMG1P4,VWA3A,EEF2K,CDR2,SCNN1G,SCNN1B,NDUFAB1,LINC2194,TNRC6A,SLC5A11,HS3ST4,GTF3C1,KIAA0556,GSG1L,XPO6,SGF29,EIF3C,ATXN2L,NFATC2IP,RRN3P2,MOSMO,USP31,PRKCB,NSMCE1,SBK1,SNX29P2,LCMT1
Controls
No Control Data Available
No Animal Model Data Available