8p23.1-p12CNV Type: Duplication
Largest CNV size: 25356821 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Duplications within this region were found in two cases from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
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...
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
19898187
0
1
1
guo_19_DD/ID_discovery_cases
Patients hospitalized at the Department of Pediatric Rehabilitation Medicine, Zhengzhou Children's Hospital, between April 2017 and March 2019 showing clinical signs of neurodevelopmental disorders
54
Cases presented with one or more neurodevelopmental disorders, with global developmental delay and intellectual disability being among the most frequently observed phenotypes in this cohort.
Median age, 15 (8-26) months
61.1% Male
23270000
0
1
1
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
25356821
0
2
2
okur_21_ASD/EP/NDD_discovery_cases
Individuals with chromosome 8p rearrangements of invdupdel(8p), del(8p), and dup(8p) (selected from an original cohort of 97 individuals).
89
All patients presented with neurodevelopmental features (NDD); a subset of patients presented with autism spectrum disorder and/or epilepsy/seizures.
Range, 0.8-33.9 yrs.
47.19% Male
23353498
1
15
16
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
23628152
0
2
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
guo_19_DD/ID_discovery_cases
China
NGS
Illumina HiSeq 2500
m-HMM
FASTQ v.0.18.1
None
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
okur_21_ASD/EP/NDD_discovery_cases
N/A
CMA
N/A
N/A
N/A
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
chaves_24_ASD/DD/ID_discovery_cases-case995
F
Failure to thrive, facial dysmorphism, hydrocephalus, thin corpus callosum, ventricular ectasia. Karyotype: 46,XX,add(8)(?-pter).
12077514
31975700
19898187
GRCh38
Duplication
No
guo_19_DD/ID_discovery_cases-case9
9 mos.
F
Global developmental delay and cognitive impairment
Delayed speech and language development, cognitive impairment, global developmental delay, motor deterioration, Babinski sign, myotonia of the lower limb, corpus callosum atrophy, abnormality of body weight
Cognitive impairment
12689346
35959337
23269992
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001096
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12383584
36370018
23986435
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001257
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12609975
37892000
25282026
GRCh38
Duplication
Yes
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_33
3.7 yrs.
M
NDD
Prenatal history: Oligo-/Polyhydramnios or Renal issues. Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy, Prematurity. Neurologic profile: Hypotonia, Hypertonia, Difficulty walking/Wobbly, clumsy gait, Microcephaly, Coordination problems. Cardiac issues: PFO. Visual abnormalities: Nystagmus, Other visual abnormalities. Genitourinary abnormalities: Cryptorchidism. Growth and Endocrine abnormalities: failure to thrive/poor weight gain, Hypo/hyperthyroidism. Frequent infections: Otitis media.
12088345
33290869
21202525
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_27
10.5 yrs.
M
ASD and epilepsy/seizures
Neonatal history: Floppy infant, Poor suck, Hypoglycemia. Neurobehavioral profile: Autism. Neurologic profile: Hypotonia. Brain imaging abnormality: Dandy-Walker malformation, Other brain imaging abnormality. Seizures: Absence. Gastrointestinal abnormalities: Constipation, Feeding difficulty. Musculoskeletal abnormalities: Other musculoskeletal abnormalities. Growth and Endocrine abnormalities: Low cortisol levels. Skin abnormalities: Cold hands and feet.
12691704
36045201
23353498
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_28
10.7 yrs.
F
NDD
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Irritable. Neurologic profile: Hypotonia, Hypertonia. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia), Cerebral/cerebellar atrophy. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: Constipation, GERD. Musculoskeletal abnormalities: Equinovarus/equinovalgus, Pectus excavatum/carinatum. Dental abnormalities: Widely-spaced teeth, Small teeth.
12777490
35947482
23169993
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_29
3.7 yrs.
F
Epilepsy/seizures
Prenatal history: SGA, Oligo-/Polyhydramnios or Renal issues. Neonatal history: Feeding difficulty, Poor suck, Overly sleepy, Irritable, Hypoglycemia, Stiff infant. Neurologic profile: Hypotonia. Seizures: Absence. Gastrointestinal abnormalities: GERD. Musculoskeletal abnormalities: Pes cavus, Other musculoskeletal abnormalities. Skin abnormalities: Dermatitis.
12722622
35792497
23069876
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_30
3.2 yrs.
M
Epilepsy/seizures
Prenatal history: Cardiac finding. Neonatal history: Feeding difficulty, Poor suck, Prematurity, Stiff infant. Neurologic profile: Hypotonia, Hypertonia. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia), Other brain imaging abnormality. Seizures: Tonic-clonic. Cardiac issues: ToF. Visual abnormalities: Strabismus. Gastrointestinal abnormalities: Constipation, GERD, Intestinal malrotation, Coanal atresia. Musculoskeletal abnormalities: Scoliosis, Vertebral abnormalities, Tethered cord/spina bifida. Genitourinary abnormalities: Cryptorchidism, Hypospadias. Skin: Keratosis pilaris. Additional medical history: Conductive hearing loss (fluid).
12391920
35043762
22651843
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_32
2.2 yrs.
F
NDD
Prenatal history: Single umbilical artery. Neonatal history: Floppy infant, Feeding difficulty, Prematurity. Neurologic profile: Hypertonia, Difficulty walking/Wobbly, clumsy gait, Macrocephaly. Brain imaging abnormality: Hydrocephalus/Ventriculomegaly. EEG: Slowing, Epileptiform changes. Cardiac issues: VSD. Visual abnormalities: Strabismus, Other visual abnormalities. Musculoskeletal abnormalities: Tethered cord/spina bifida.
12077513
34232751
22155239
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_33
6.5 yrs.
M
Epilepsy/seizures
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Prematurity. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping. Neurologic profile: Hypotonia. Brain imaging abnormality: abnormality of the corpus callosum (agenesis), Other brain imaging abnormality. Seizures: Febrile. EEG: Slowing. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: GERD. Musculoskeletal abnormalities: Inguinal hernia, Equinovarus/equinovalgus.
12670972
33827268
21156297
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_34
4.9 yrs.
F
Epilepsy/seizures
Prenatal history: Single umbilical artery, Oligo-/Polyhydramnios or Renal issues, Pre-eclampsia. Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy, Prematurity, Thermoregulation issues. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia). Seizures: Absence. Sleep problems: Night terrors. Cardiac issues: VSD, PFO. Visual abnormalities: Refractive error, Optic nerve (atrophy/enlarged/cupped). Gastrointestinal abnormalities: Constipation, Feeding difficulty, TEF. Skin abnormalities: Rashes. Frequent infections: Otitis media, Upper respiratory infection, Urinary tract infections. Dental abnormalities: Prognathism. Additional medical history: Anemia.
12688128
33781036
21092909
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_35
11.8 yrs.
F
Epilepsy/seizures
Prenatal history: Reduced fetal movement. Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy, Torticollis. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping. Neurologic profile: Hypotonia, Hypertonia, Regression. Brain imaging abnormality: Hydrocephalus/Ventriculomegaly. Seizures: Complex partial. EEG: Epileptiform changes. Sleep problems: Other sleep problems. Visual abnormalities: Strabismus. Gastrointestinal abnormalities: Constipation, GERD, Feeding difficulty. Growth and Endocrine abnormalities: Short stature. Skin abnormalities: Eczema. Frequent infections: Otitis media, Urinary tract infections. Dental abnormalities: Supernumerary tooth.
12077513
33559740
21482228
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_36
2.9 yrs.
F
NDD
Prenatal history: Single umbilical artery. Neonatal history: Floppy infant, Hypoglycemia. Neurologic profile: Hypotonia. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia), Hydrocephalus/Ventriculomegaly, Dandy-Walker malformation. Cardiac issues: VSD. Gastrointestinal abnormalities: Constipation. Musculoskeletal abnormalities: Scoliosis. Skin abnormalities: Dry skin, Dermatitis.
12182420
32618381
20435962
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_37
1.6 yrs.
M
NDD
Neonatal history: Irritable, Hypoglycemia. Neurologic profile: Hypotonia, Hypertonia, Macrocephaly. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia), Delayed myelination. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: Constipation.
12729022
32232644
19503623
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_38
4.4 yrs.
F
NDD
Neurobehavioral profile: Aggessivity/Tantrums/Impulsivity. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait. Brain imaging abnormality: Other brain imaging abnormality. Gastrointestinal abnormalities: GERD. Skin abnormalities: Eczema.
12682018
31382869
18700852
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_39
5.7 yrs.
M
NDD
Prenatal history: Single umbilical artery, Cardiac finding, Oligo-/Polyhydramnios or Renal issues, Intracranial cyst. Neonatal history: Floppy infant, Poor suck, Overly sleepy. Neurologic profile: Hypotonia, Macrocephaly. Brain imaging abnormality: Hydrocephalus/Ventriculomegaly. Cardiac issues: VSD, PFO, ASD. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: Constipation, GERD, Diarrhea. Musculoskeletal abnormalities: Scoliosis. Genitourinary abnormalities: Cryptorchidism. Growth and Endocrine abnormalities: failure to thrive/poor weight gain. Frequent infections: Otitis media, Upper respiratory infection. Dental abnormalities: Widely-spaced teeth.
12088345
30978454
18890110
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_40
5.48 yrs.
F
NDD
Prenatal history: Reduced fetal movement. Neonatal history: Floppy infant, Feeding difficulty, Irritable. EEG: Other abnormal activity. Visual abnormalities: Strabismus. Gastrointestinal abnormalities: Constipation, GERD, Diarrhea.
12088345
29893922
17805578
GRCh38
Duplication
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_41
2.2 yrs.
F
NDD
Neonatal history: Feeding difficulty, Prematurity. Neurologic profile: Difficulty walking/Wobbly, clumsy gait. Brain imaging abnormality: Intracranial cyst, Other brain imaging abnormality. Cardiac issues: Dextrapositoned heart. Gastrointestinal abnormalities: Constipation. Frequent infections: Upper respiratory infections.
12633488
29224708
16591221
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1041-0
N/A
F
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: yes. Brain imaging: partial ACC, normal pituitary gland, no Probst bundles, decreased white matter volume, and normal myelination observed on brain MRI.
Developmental delay: yes. Intellectual disability: yes.
12693647
36246618
23552972
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1610-0
N/A
F
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no. Neurological features: hypotonia, deficits in expressive and receptive language skills, difficulty verbalizing, deficits in motor oral skills. Behavioral problems: low tolerance level, poor self control. Dysmorphic features: prominent ears. Ocular and auditory problems: chronic otitis media, hyperopia, strabismus. Gastrointestinal problems: constipation. Musculoskeletal problems: pectus excavatum. Brain imaging: complete ACC, normal pituitary gland, large ventricle sizue, no Probst bundles, decreased white matter volume, and normal myelination observed on brain MRI.
Developmental delay: yes. Intellectual disability: yes.
12636756
33334123
20697368
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chaves_24_ASD/DD/ID_discovery_cases-case995
Unknown
CHRNA2,NATP,ATP6V1B2,NAT1,ADRA1A,POLR3D,NAT2,BMP1,ASAH1,CLU,BNIP3L,EPHX2,FGL1,DPYSL2,EXTL3,PTK2B,DMTN,EGR3,DUSP4,ADAMDEC1,FGF20,CNOT7,SLC25A37,MAP2K1P1,SCARA3,PURG,ZDHHC2,SARAF,ELP3,KCTD9,PIWIL2,INTS10,CCDC25,MTUS1,PBK,HR,BIN3,CSGALNACT1,INTS9,ZNF395,TRMT9B,CCAR2,TEX15,PDLIM2,EBF2,NUDT18,FHIP2B,HMBOX1,SH2D4A,STMN4,REEP4,DOCK5,FAM86B1,LONRF1,TUBBP1,CHMP7,VPS37A,SGCZ,NKX2-6,PPM1AP1,C8orf48,CDCA2,LGI3,SDAD1P1,R3HCC1,PEBP4,ESCO2,FBXO16,GTF2E2,GNRH1,GSR,NRG1,GULOP,GFRA2,DEFB130A,DEFB109A,MICU3,SCARA5,LINC02153,PSME2P5,LINC02209,USP17L2,OR7E8P,MRPL49P2,RPL5P22,HSPA8P11,TNFRSF10A-DT,FAM90A25P,NUGGC,ZNF705CP,USP17L7,OR6R2P,MIR320A,C8orf58,KCTD9P6,MBOAT4,DEFB108D,MIR383,DEFB109D,LINC00589,DEFB108E,CCT3P1,RPL17P33,RPL32P19,ADAM24P,RPS15AP24,SINHCAFP3,FAM86B2,ZNF705D,TMEM97P2,BTF3P3,FAM90A2P,RBPMS-AS1,NEFM,NKX3-1,LOXL2,NEFL,MSR1,LPL,EIF4EP5,FAM66D,FAM66A,RPL30P9,RPL35P6,RPS3AP35,DEFB131D,RPL23AP55,DNAJB6P2,RPS3AP34,MIR548H4,ALG1L12P,MIR3622A,MIR4287,MIR3926-1,MIR3148,MIR4288,MIR3926-2,MIR548V,COX6B1P4,MIR3622B,SMIM18,PIWIL2-DT,MTND4P7,RNA5SP259,RNA5SP261,RNA5SP255,RNA5SP260,MIR5692A2,RNA5SP256,RNA5SP258,RNA5SP257,LZTS1-AS1,RNU5A-3P,HMGB1P23,LINC00681,PNOC,PCM1,PDGFRL,PPP2CB,PPP3CC,PPP2R2A,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MTUS1-DT,MIR6876,MIR6843,RNU7-153P,STC1,SFTPC,SLC7A2,SLC18A1,ENPP7P12,RNU6-1218P,RNU6-178P,RNU6-397P,RNU6-336P,RN7SL303P,RNA5SP253,RN7SL474P,SUMO2P16,ALG1L11P,RNU4-71P,RNU6-1086P,RNA5SP254,HMBOX1-IT1,RNU6-842P,RNU1-148P,MTND4LP26,RNU6-892P,RNU6-1276P,ENPP7P6,INTS9-AS1,PPIAP84,TNFRSF10A-AS1,TNFRSF10A,ADAM7,TNFRSF10D,FZD3,TNFRSF10B,TNFRSF10C,UBXN8,OR7E15P,WRN,TUSC3,FGF17,ENTPD4-DT,DCTN6-DT,HIKESHIP3,HRURF,MTMR7,PHYHIP,SORBS3,DOK2,ENTPD4,NPM2,LZTS1,DLC1,DCTN6,OR7E10P,PNMA2,ADAM28,RBPMS,RHOBTB2,PSD3,KIF13B,LEPROTL1,XPO7,TRIM35,SLC39A14
guo_19_DD/ID_discovery_cases-case9
De novo
OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,RNU6-842P,MTND4P7,RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,MIR383,PPM1AP1,MRPL49P2,RN7SL474P,FGF20,ADAM24P,MIR548V,RNA5SP256,MTND4LP26,NATP,RPL35P6,RPL30P9,RNU6-892P,RNA5SP257,TMEM97P2,OR6R2P,DOK2,FGF17,NUDT18,REEP4,SFTPC,PHYHIP,MIR320A,RNU6-336P,C8orf58,RN7SL303P,TNFRSF10C,TNFRSF10A-AS1,RPL23AP55,RNU4-71P,SINHCAFP3,NKX3-1,NKX2-6,STC1,RNU1-148P,NEFM,MIR6841,MIR6876,GNRH1,RNA5SP258,COX6B1P4,MIR548H4,MIR6842,MIR6843,RNU6-1086P,MIR3622B,MIR3622A,RNU6-1276P,MIR4287,RPL5P22,RNU6-178P,MIR4288,RNA5SP259,EXTL3-AS1,INTS9-AS1,RNA5SP260,HMGB1P23,RPL17P33,MIR3148,MAP2K1P1,RNU6-1218P,RPS15AP24,MBOAT4,HSPA8P11,PPIAP84,TUBBP1,RBPMS-AS1,SMIM18,RNU5A-3P,SUMO2P16,KCTD9P6,RNA5SP261,RNA5SP262,RNA5SP263,NRG1-IT3,RNU6-663P,MTND1P6,MTND2P32,RANP9,RNU6-528P,SNORD13,RPL10P18,RN7SL621P,DUSP26,BUD31P1,RN7SL457P,VENTXP5,RPL10AP3,LSM12P1,LONRF1,LINC00681,CNOT7,PDGFRL,FGL1,ASAH1,NAT2,SH2D4A,INTS10,SLC18A1,ATP6V1B2,LZTS1,LZTS1-AS1,LINC02153,XPO7,NPM2,DMTN,FAM160B2,HR,BMP1,POLR3D,PPP3CC,SORBS3,PDLIM2,CCAR2,BIN3,EGR3,RHOBTB2,TNFRSF10D,CHMP7,R3HCC1,ENTPD4,SLC25A37,ADAM28,ADAMDEC1,NEFL,CDCA2,SDAD1P1,PNMA2,ADRA1A,STMN4,TRIM35,CHRNA2,GULOP,CLU,CCDC25,PBK,PNOC,ZNF395,HMBOX1-IT1,DUSP4,LINC00589,LINC02209,SARAF,DCTN6,GTF2E2,GSR,UBXN8,TEX15,PURG,TTI2,MAK16,TRMT9B,DLC1,MSR1,MICU3,ZDHHC2,VPS37A,MTMR7,SLC7A2,MTUS1,PCM1,NAT1,CSGALNACT1,GFRA2,LGI3,PIWIL2,SLC39A14,PEBP4,TNFRSF10A,LOXL2,ADAM7,DOCK5,KCTD9,EBF2,PPP2R2A,BNIP3L,DPYSL2,PTK2B,EPHX2,SCARA3,ESCO2,SCARA5,NUGGC,ELP3,FBXO16,FZD3,EXTL3,INTS9,HMBOX1,KIF13B,LINC02099,LEPROTL1,PPP2CB,WRN,NRG1-IT1,FUT10,LINC01288,SGCZ,TUSC3,PSD3,LPL,TNFRSF10B,RBPMS,NRG1,UNC5D,RNF122
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001096
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB109A,FAM90A25P,ALG1L12P,RPS3AP34,RPS3AP35,OR7E8P,OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,RNU6-842P,MTND4P7,RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,MIR383,PPM1AP1,MRPL49P2,RN7SL474P,FGF20,ADAM24P,MIR548V,RNA5SP256,MTND4LP26,NATP,RPL35P6,RPL30P9,RNU6-892P,RNA5SP257,TMEM97P2,OR6R2P,DOK2,FGF17,NUDT18,REEP4,SFTPC,PHYHIP,MIR320A,RNU6-336P,C8orf58,RN7SL303P,TNFRSF10C,TNFRSF10A-AS1,RPL23AP55,RNU4-71P,SINHCAFP3,NKX3-1,NKX2-6,STC1,RNU1-148P,NEFM,MIR6841,MIR6876,GNRH1,RNA5SP258,COX6B1P4,MIR548H4,MIR6842,MIR6843,RNU6-1086P,MIR3622B,MIR3622A,RNU6-1276P,MIR4287,RPL5P22,RNU6-178P,MIR4288,RNA5SP259,EXTL3-AS1,INTS9-AS1,RNA5SP260,HMGB1P23,RPL17P33,MIR3148,MAP2K1P1,RNU6-1218P,RPS15AP24,MBOAT4,HSPA8P11,PPIAP84,TUBBP1,RBPMS-AS1,SMIM18,RNU5A-3P,SUMO2P16,KCTD9P6,RNA5SP261,RNA5SP262,RNA5SP263,NRG1-IT3,RNU6-663P,MTND1P6,MTND2P32,RANP9,RNU6-528P,SNORD13,RPL10P18,RN7SL621P,DUSP26,BUD31P1,RN7SL457P,VENTXP5,RPL10AP3,LSM12P1,MTCYBP19,MTND6P19,MTND5P41,RNU6-533P,FAM66A,FAM86B2,LONRF1,LINC00681,CNOT7,PDGFRL,FGL1,ASAH1,NAT2,SH2D4A,INTS10,SLC18A1,ATP6V1B2,LZTS1,LZTS1-AS1,LINC02153,XPO7,NPM2,DMTN,FAM160B2,HR,BMP1,POLR3D,PPP3CC,SORBS3,PDLIM2,CCAR2,BIN3,EGR3,RHOBTB2,TNFRSF10D,CHMP7,R3HCC1,ENTPD4,SLC25A37,ADAM28,ADAMDEC1,NEFL,CDCA2,SDAD1P1,PNMA2,ADRA1A,STMN4,TRIM35,CHRNA2,GULOP,CLU,CCDC25,PBK,PNOC,ZNF395,HMBOX1-IT1,DUSP4,LINC00589,LINC02209,SARAF,DCTN6,GTF2E2,GSR,UBXN8,TEX15,PURG,TTI2,MAK16,LINC01288,ENPP7P6,TRMT9B,DLC1,MSR1,MICU3,ZDHHC2,VPS37A,MTMR7,SLC7A2,MTUS1,PCM1,NAT1,CSGALNACT1,GFRA2,LGI3,PIWIL2,SLC39A14,PEBP4,TNFRSF10A,LOXL2,ADAM7,DOCK5,KCTD9,EBF2,PPP2R2A,BNIP3L,DPYSL2,PTK2B,EPHX2,SCARA3,ESCO2,SCARA5,NUGGC,ELP3,FBXO16,FZD3,EXTL3,INTS9,HMBOX1,KIF13B,LINC02099,LEPROTL1,PPP2CB,WRN,NRG1-IT1,FUT10,SGCZ,TUSC3,PSD3,LPL,TNFRSF10B,RBPMS,NRG1,UNC5D,RNF122
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001257
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS3AP35,OR7E8P,OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,RNU6-842P,MTND4P7,RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,MIR383,PPM1AP1,MRPL49P2,RN7SL474P,FGF20,ADAM24P,MIR548V,RNA5SP256,MTND4LP26,NATP,RPL35P6,RPL30P9,RNU6-892P,RNA5SP257,TMEM97P2,OR6R2P,DOK2,FGF17,NUDT18,REEP4,SFTPC,PHYHIP,MIR320A,RNU6-336P,C8orf58,RN7SL303P,TNFRSF10C,TNFRSF10A-AS1,RPL23AP55,RNU4-71P,SINHCAFP3,NKX3-1,NKX2-6,STC1,RNU1-148P,NEFM,MIR6841,MIR6876,GNRH1,RNA5SP258,COX6B1P4,MIR548H4,MIR6842,MIR6843,RNU6-1086P,MIR3622B,MIR3622A,RNU6-1276P,MIR4287,RPL5P22,RNU6-178P,MIR4288,RNA5SP259,EXTL3-AS1,INTS9-AS1,RNA5SP260,HMGB1P23,RPL17P33,MIR3148,MAP2K1P1,RNU6-1218P,RPS15AP24,MBOAT4,HSPA8P11,PPIAP84,TUBBP1,RBPMS-AS1,SMIM18,RNU5A-3P,SUMO2P16,KCTD9P6,RNA5SP261,RNA5SP262,RNA5SP263,NRG1-IT3,RNU6-663P,MTND1P6,MTND2P32,RANP9,RNU6-528P,SNORD13,RPL10P18,RN7SL621P,DUSP26,BUD31P1,RN7SL457P,VENTXP5,RPL10AP3,LSM12P1,MTCYBP19,MTND6P19,MTND5P41,RNU6-533P,RPL23P10,RNA5SP264,TPT1P8,SMARCE1P4,RNU6-607P,LONRF1,LINC00681,CNOT7,PDGFRL,FGL1,ASAH1,NAT2,SH2D4A,INTS10,SLC18A1,ATP6V1B2,LZTS1,LZTS1-AS1,LINC02153,XPO7,NPM2,DMTN,FAM160B2,HR,BMP1,POLR3D,PPP3CC,SORBS3,PDLIM2,CCAR2,BIN3,EGR3,RHOBTB2,TNFRSF10D,CHMP7,R3HCC1,ENTPD4,SLC25A37,ADAM28,ADAMDEC1,NEFL,CDCA2,SDAD1P1,PNMA2,ADRA1A,STMN4,TRIM35,CHRNA2,GULOP,CLU,CCDC25,PBK,PNOC,ZNF395,HMBOX1-IT1,DUSP4,LINC00589,LINC02209,SARAF,DCTN6,GTF2E2,GSR,UBXN8,TEX15,PURG,TTI2,MAK16,LINC01288,ZNF703,PLPBP,ADGRA2,BRF2,TRMT9B,DLC1,MSR1,MICU3,ZDHHC2,VPS37A,MTMR7,SLC7A2,MTUS1,PCM1,NAT1,CSGALNACT1,GFRA2,LGI3,PIWIL2,SLC39A14,PEBP4,TNFRSF10A,LOXL2,ADAM7,DOCK5,KCTD9,EBF2,PPP2R2A,BNIP3L,DPYSL2,PTK2B,EPHX2,SCARA3,ESCO2,SCARA5,NUGGC,ELP3,FBXO16,FZD3,EXTL3,INTS9,HMBOX1,KIF13B,LINC02099,LEPROTL1,PPP2CB,WRN,NRG1-IT1,FUT10,KCNU1,LINC01605,RAB11FIP1,SGCZ,TUSC3,PSD3,LPL,TNFRSF10B,RBPMS,NRG1,UNC5D,ERLIN2,RNF122
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_33
Unknown
ASAH1,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,FGL1,EGR3,DMTN,EPHX2,DUSP4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,KCTD9,PIWIL2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,BIN3,CSGALNACT1,PDLIM2,NUDT18,HMBOX1,EBF2,SH2D4A,STMN4,REEP4,DOCK5,CHMP7,TUBBP1,LONRF1,FAM86B1,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,SDAD1P1,R3HCC1,GULOP,GNRH1,GFRA2,NRG1,GSR,GTF2E2,DEFB130A,DEFB109A,LINC02209,SCARA5,MICU3,PSME2P5,LINC02153,OR7E8P,MRPL49P2,USP17L2,ZNF705CP,NUGGC,HSPA8P11,FAM90A25P,USP17L7,RPL5P22,MIR320A,OR6R2P,LINC00589,C8orf58,DEFB108D,MBOAT4,KCTD9P6,MIR383,DEFB109D,DEFB108E,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,FAM86B2,ZNF705D,BTF3P3,FAM90A2P,RBPMS-AS1,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,FAM66A,FAM66D,RPL35P6,RPL30P9,RPL23AP55,RPS3AP34,DEFB131D,DNAJB6P2,RPS3AP35,MIR548H4,ALG1L12P,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RNA5SP262,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,PCM1,PDGFRL,PPP2R2A,PPP3CC,PPP2CB,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,RNA5SP263,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,RNU6-1218P,RNU6-178P,RNU6-397P,ENPP7P12,RN7SL303P,ALG1L11P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,HMBOX1-IT1,RNU6-1086P,RNU6-663P,RNU1-148P,RNU6-1276P,RNA5SP254,MTND4LP26,RNU6-842P,ENPP7P6,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,FZD3,FGF17,WRN,HIKESHIP3,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,PNMA2,OR7E10P,NPM2,RBPMS,LZTS1,ADAM28,DCTN6,DLC1,KIF13B,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_27
Unknown
ASAH1,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,FGL1,EGR3,DMTN,EPHX2,DUSP4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,KCTD9,PIWIL2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,BIN3,CSGALNACT1,DUSP26,RNF122,PDLIM2,NUDT18,HMBOX1,EBF2,SH2D4A,STMN4,REEP4,TTI2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,RPL10AP3,NKX2-6,VPS37A,UNC5D,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,SDAD1P1,R3HCC1,GULOP,GNRH1,GFRA2,NRG1,GSR,GTF2E2,LINC02209,SCARA5,MICU3,PSME2P5,LINC02153,MRPL49P2,NUGGC,HSPA8P11,RPL5P22,MIR320A,OR6R2P,LINC00589,C8orf58,MBOAT4,KCTD9P6,MIR383,VENTXP5,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,SNORD13,LSM12P1,BTF3P3,RBPMS-AS1,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,RPL35P6,RPL30P9,RPL23AP55,DNAJB6P2,MIR548H4,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,PCM1,PDGFRL,PPP2R2A,PPP3CC,PPP2CB,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,LINC01288,RNA5SP263,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,BUD31P1,RNU6-1218P,RNU6-178P,RNU6-528P,RNU6-397P,RN7SL621P,RN7SL303P,RN7SL457P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,HMBOX1-IT1,RNU6-1086P,RNU6-663P,RNU1-148P,RNU6-1276P,MTND4LP26,RNU6-842P,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,FZD3,FGF17,WRN,HIKESHIP3,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,PNMA2,OR7E10P,NPM2,RBPMS,LZTS1,ADAM28,DCTN6,DLC1,KIF13B,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_28
Unknown
ASAH1,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,FGL1,EGR3,DMTN,EPHX2,DUSP4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,KCTD9,PIWIL2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,BIN3,CSGALNACT1,DUSP26,RNF122,PDLIM2,NUDT18,HMBOX1,EBF2,SH2D4A,STMN4,REEP4,TTI2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,RPL10AP3,NKX2-6,VPS37A,UNC5D,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,SDAD1P1,R3HCC1,GULOP,GNRH1,GFRA2,NRG1,GSR,GTF2E2,LINC02209,SCARA5,MICU3,PSME2P5,LINC02153,MRPL49P2,NUGGC,HSPA8P11,RPL5P22,MIR320A,OR6R2P,LINC00589,C8orf58,MBOAT4,KCTD9P6,MIR383,VENTXP5,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,SNORD13,LSM12P1,BTF3P3,RBPMS-AS1,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,RPL35P6,RPL30P9,RPL23AP55,DNAJB6P2,MIR548H4,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,SMIM18,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP256,RNA5SP261,NRG1-IT1,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,PCM1,PDGFRL,PPP2R2A,PPP3CC,PPP2CB,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,LINC01288,RNA5SP263,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,BUD31P1,RNU6-1218P,RNU6-178P,RNU6-528P,RNU6-397P,RN7SL621P,RN7SL303P,RN7SL457P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,HMBOX1-IT1,RNU6-1086P,RNU6-663P,RNU1-148P,RNU6-1276P,MTND4LP26,RNU6-842P,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,ADAM7,TNFRSF10D,FZD3,FGF17,WRN,HIKESHIP3,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,PNMA2,NPM2,RBPMS,LZTS1,ADAM28,DCTN6,DLC1,KIF13B,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_29
Unknown
ASAH1,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,FGL1,EGR3,DMTN,EPHX2,DUSP4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,KCTD9,PIWIL2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,BIN3,CSGALNACT1,DUSP26,RNF122,PDLIM2,NUDT18,HMBOX1,EBF2,SH2D4A,STMN4,REEP4,TTI2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,RPL10AP3,NKX2-6,VPS37A,UNC5D,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,SDAD1P1,R3HCC1,GULOP,GNRH1,GFRA2,NRG1,GSR,GTF2E2,LINC02209,SCARA5,MICU3,PSME2P5,LINC02153,MRPL49P2,NUGGC,HSPA8P11,RPL5P22,MIR320A,OR6R2P,LINC00589,C8orf58,MBOAT4,KCTD9P6,MIR383,VENTXP5,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,SNORD13,LSM12P1,BTF3P3,RBPMS-AS1,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,RPL35P6,RPL30P9,RPL23AP55,DNAJB6P2,MIR548H4,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP256,RNA5SP261,NRG1-IT1,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,PCM1,PDGFRL,PPP2R2A,PPP3CC,PPP2CB,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,LINC01288,RNA5SP263,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,BUD31P1,RNU6-1218P,RNU6-178P,RNU6-528P,RNU6-397P,RN7SL621P,RN7SL303P,RN7SL457P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,HMBOX1-IT1,RNU6-1086P,RNU6-663P,RNU1-148P,RNU6-1276P,MTND4LP26,RNU6-842P,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,ADAM7,TNFRSF10D,FZD3,FGF17,WRN,HIKESHIP3,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,PNMA2,NPM2,RBPMS,LZTS1,ADAM28,DCTN6,DLC1,KIF13B,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_30
Unknown
ASAH1,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,FGL1,EGR3,DMTN,EPHX2,DUSP4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,KCTD9,PIWIL2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,BIN3,CSGALNACT1,DUSP26,RNF122,PDLIM2,NUDT18,HMBOX1,EBF2,SH2D4A,STMN4,REEP4,TTI2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,RPL10AP3,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,SDAD1P1,R3HCC1,GULOP,GNRH1,GFRA2,NRG1,GSR,GTF2E2,DEFB109A,LINC02209,SCARA5,MICU3,PSME2P5,LINC02153,OR7E8P,MRPL49P2,NUGGC,HSPA8P11,FAM90A25P,RPL5P22,MIR320A,OR6R2P,LINC00589,C8orf58,MBOAT4,KCTD9P6,MIR383,VENTXP5,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,FAM86B2,SNORD13,BTF3P3,RBPMS-AS1,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,RPL35P6,RPL30P9,RPL23AP55,RPS3AP34,DNAJB6P2,RPS3AP35,MIR548H4,ALG1L12P,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,PCM1,PDGFRL,PPP2R2A,PPP3CC,PPP2CB,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,LINC01288,RNA5SP263,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,BUD31P1,RNU6-1218P,RNU6-178P,RNU6-528P,RNU6-397P,RN7SL621P,RN7SL303P,RN7SL457P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,HMBOX1-IT1,RNU6-1086P,RNU6-663P,RNU1-148P,RNU6-1276P,MTND4LP26,RNU6-842P,ENPP7P6,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,FZD3,FGF17,WRN,HIKESHIP3,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,PNMA2,OR7E10P,NPM2,RBPMS,LZTS1,ADAM28,DCTN6,DLC1,KIF13B,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_32
Unknown
ASAH1,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,FGL1,EGR3,DMTN,EPHX2,DUSP4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,KCTD9,PIWIL2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,BIN3,CSGALNACT1,DUSP26,RNF122,PDLIM2,NUDT18,HMBOX1,EBF2,SH2D4A,STMN4,REEP4,TTI2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,FAM86B1,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,SDAD1P1,R3HCC1,GULOP,GNRH1,GFRA2,NRG1,GSR,GTF2E2,DEFB130A,DEFB109A,LINC02209,SCARA5,MICU3,PSME2P5,LINC02153,OR7E8P,MRPL49P2,USP17L2,ZNF705CP,NUGGC,HSPA8P11,FAM90A25P,USP17L7,RPL5P22,MIR320A,OR6R2P,LINC00589,C8orf58,DEFB108D,MBOAT4,KCTD9P6,MIR383,DEFB109D,DEFB108E,VENTXP5,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,FAM86B2,SNORD13,ZNF705D,BTF3P3,FAM90A2P,RBPMS-AS1,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,FAM66A,FAM66D,RPL35P6,RPL30P9,RPL23AP55,RPS3AP34,DEFB131D,DNAJB6P2,RPS3AP35,MIR548H4,ALG1L12P,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,PCM1,PDGFRL,PPP2R2A,PPP3CC,PPP2CB,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,RNA5SP263,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,BUD31P1,RNU6-1218P,RNU6-178P,RNU6-528P,RNU6-397P,RN7SL621P,ENPP7P12,RN7SL303P,RN7SL457P,RNA5SP253,ALG1L11P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,HMBOX1-IT1,RNU6-1086P,RNU6-663P,RNU1-148P,RNU6-1276P,RNA5SP254,MTND4LP26,RNU6-842P,ENPP7P6,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,FZD3,FGF17,WRN,HIKESHIP3,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,PNMA2,OR7E10P,NPM2,RBPMS,LZTS1,ADAM28,DCTN6,DLC1,KIF13B,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_33
Unknown
ASAH1,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,FGL1,EGR3,DMTN,EPHX2,DUSP4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,KCTD9,PIWIL2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,BIN3,CSGALNACT1,DUSP26,RNF122,PDLIM2,NUDT18,HMBOX1,EBF2,SH2D4A,STMN4,REEP4,TTI2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,SDAD1P1,R3HCC1,GULOP,GNRH1,GFRA2,NRG1,GSR,GTF2E2,LINC02209,SCARA5,MICU3,PSME2P5,LINC02153,OR7E8P,MRPL49P2,NUGGC,HSPA8P11,RPL5P22,MIR320A,OR6R2P,LINC00589,C8orf58,MBOAT4,KCTD9P6,MIR383,VENTXP5,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,SNORD13,BTF3P3,RBPMS-AS1,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,RPL35P6,RPL30P9,RPL23AP55,DNAJB6P2,MIR548H4,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,PCM1,PDGFRL,PPP2R2A,PPP3CC,PPP2CB,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,RNA5SP263,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,BUD31P1,RNU6-1218P,RNU6-178P,RNU6-528P,RNU6-397P,RN7SL621P,RN7SL303P,RN7SL457P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,HMBOX1-IT1,RNU6-1086P,RNU6-663P,RNU1-148P,RNU6-1276P,MTND4LP26,RNU6-842P,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,FZD3,FGF17,WRN,HIKESHIP3,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,PNMA2,OR7E10P,NPM2,RBPMS,LZTS1,ADAM28,DCTN6,DLC1,KIF13B,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_34
Unknown
ASAH1,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,FGL1,EGR3,DMTN,EPHX2,DUSP4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,KCTD9,PIWIL2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,BIN3,CSGALNACT1,DUSP26,RNF122,PDLIM2,NUDT18,HMBOX1,EBF2,SH2D4A,STMN4,REEP4,TTI2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,SDAD1P1,R3HCC1,GULOP,GNRH1,GFRA2,NRG1,GSR,GTF2E2,LINC02209,SCARA5,MICU3,PSME2P5,LINC02153,MRPL49P2,NUGGC,HSPA8P11,RPL5P22,MIR320A,OR6R2P,LINC00589,C8orf58,MBOAT4,KCTD9P6,MIR383,VENTXP5,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,SNORD13,BTF3P3,RBPMS-AS1,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,RPL35P6,RPL30P9,RPL23AP55,DNAJB6P2,MIR548H4,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,PCM1,PDGFRL,PPP2R2A,PPP3CC,PPP2CB,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,RNA5SP263,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,BUD31P1,RNU6-1218P,RNU6-178P,RNU6-528P,RNU6-397P,RN7SL621P,RN7SL303P,RN7SL457P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,HMBOX1-IT1,RNU6-1086P,RNU6-663P,RNU1-148P,RNU6-1276P,MTND4LP26,RNU6-842P,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,FZD3,FGF17,WRN,HIKESHIP3,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,PNMA2,OR7E10P,NPM2,RBPMS,LZTS1,ADAM28,DCTN6,DLC1,KIF13B,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_35
Unknown
ASAH1,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,FGL1,EGR3,DMTN,EPHX2,DUSP4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,KCTD9,PIWIL2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,BIN3,CSGALNACT1,RNF122,PDLIM2,NUDT18,HMBOX1,EBF2,SH2D4A,STMN4,REEP4,TTI2,DOCK5,MAK16,FUT10,CHMP7,TUBBP1,LONRF1,FAM86B1,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,SDAD1P1,R3HCC1,GULOP,GNRH1,GFRA2,NRG1,GSR,GTF2E2,DEFB130A,DEFB109A,LINC02209,SCARA5,MICU3,PSME2P5,LINC02153,OR7E8P,MRPL49P2,USP17L2,ZNF705CP,NUGGC,HSPA8P11,FAM90A25P,USP17L7,RPL5P22,MIR320A,OR6R2P,LINC00589,C8orf58,DEFB108D,MBOAT4,KCTD9P6,MIR383,DEFB109D,DEFB108E,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,FAM86B2,SNORD13,ZNF705D,BTF3P3,FAM90A2P,RBPMS-AS1,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,FAM66A,FAM66D,RPL35P6,RPL30P9,RPL23AP55,RPS3AP34,DEFB131D,DNAJB6P2,RPS3AP35,MIR548H4,ALG1L12P,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,MTND1P6,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RPL10P18,RNA5SP262,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,MTND2P32,RANP9,LZTS1-AS1,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,PCM1,PDGFRL,PPP2R2A,PPP3CC,PPP2CB,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,RNA5SP263,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,RNU6-1218P,RNU6-178P,RNU6-528P,RNU6-397P,ENPP7P12,RN7SL303P,RNA5SP253,ALG1L11P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,HMBOX1-IT1,RNU6-1086P,RNU6-663P,RNU1-148P,RNU6-1276P,RNA5SP254,MTND4LP26,RNU6-842P,ENPP7P6,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,FZD3,FGF17,WRN,HIKESHIP3,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,PNMA2,OR7E10P,NPM2,RBPMS,LZTS1,ADAM28,DCTN6,DLC1,KIF13B,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_36
Unknown
ASAH1,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,FGL1,EGR3,DMTN,EPHX2,DUSP4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,KCTD9,PIWIL2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,BIN3,CSGALNACT1,PDLIM2,NUDT18,HMBOX1,EBF2,SH2D4A,STMN4,REEP4,DOCK5,CHMP7,TUBBP1,LONRF1,FAM86B1,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,SDAD1P1,R3HCC1,GULOP,GNRH1,GFRA2,NRG1,GSR,GTF2E2,DEFB130A,DEFB109A,LINC02209,SCARA5,MICU3,PSME2P5,LINC02153,OR7E8P,MRPL49P2,ZNF705CP,NUGGC,HSPA8P11,FAM90A25P,RPL5P22,MIR320A,OR6R2P,LINC00589,C8orf58,MBOAT4,KCTD9P6,MIR383,DEFB108E,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,FAM86B2,BTF3P3,RBPMS-AS1,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,FAM66A,RPL35P6,RPL30P9,RPL23AP55,RPS3AP34,DEFB131D,DNAJB6P2,RPS3AP35,MIR548H4,ALG1L12P,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RNA5SP262,RNA5SP256,RNA5SP261,NRG1-IT1,MIR5692A2,RNA5SP255,MTND4P7,LZTS1-AS1,RNU5A-3P,HMGB1P23,NRG1-IT3,LINC00681,PCM1,PDGFRL,PPP2R2A,PPP3CC,PPP2CB,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,RNA5SP263,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,RNU6-1218P,RNU6-178P,RNU6-397P,ENPP7P12,RN7SL303P,ALG1L11P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,HMBOX1-IT1,RNU6-1086P,RNU1-148P,RNU6-1276P,RNA5SP254,MTND4LP26,RNU6-842P,ENPP7P6,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,FZD3,FGF17,WRN,HIKESHIP3,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,PNMA2,OR7E10P,NPM2,RBPMS,LZTS1,ADAM28,DCTN6,DLC1,KIF13B,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_37
Unknown
ASAH1,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,FGL1,EGR3,DMTN,EPHX2,DUSP4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,KCTD9,PIWIL2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,BIN3,CSGALNACT1,PDLIM2,NUDT18,HMBOX1,EBF2,SH2D4A,STMN4,REEP4,DOCK5,CHMP7,TUBBP1,LONRF1,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,SDAD1P1,R3HCC1,GULOP,GNRH1,GFRA2,NRG1,GSR,GTF2E2,LINC02209,SCARA5,MICU3,PSME2P5,LINC02153,MRPL49P2,NUGGC,HSPA8P11,RPL5P22,MIR320A,OR6R2P,LINC00589,C8orf58,MBOAT4,KCTD9P6,MIR383,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,BTF3P3,RBPMS-AS1,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,RPL35P6,RPL30P9,RPL23AP55,DNAJB6P2,MIR548H4,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,SMIM18,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RNA5SP262,RNA5SP256,RNA5SP261,NRG1-IT1,RNA5SP255,MTND4P7,LZTS1-AS1,RNU5A-3P,HMGB1P23,LINC00681,PCM1,PDGFRL,PPP2R2A,PPP3CC,PPP2CB,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,RNU6-1218P,RNU6-178P,RNU6-397P,RN7SL303P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,HMBOX1-IT1,RNU6-1086P,RNU1-148P,RNU6-1276P,MTND4LP26,RNU6-842P,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,ADAM7,TNFRSF10D,FZD3,FGF17,WRN,HIKESHIP3,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,PNMA2,NPM2,RBPMS,LZTS1,ADAM28,DCTN6,DLC1,KIF13B,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_38
Unknown
ASAH1,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,FGL1,EGR3,DMTN,EPHX2,DUSP4,FGF20,ADAMDEC1,SCARA3,PURG,CNOT7,SARAF,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,KCTD9,PIWIL2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,BIN3,CSGALNACT1,PDLIM2,NUDT18,HMBOX1,EBF2,SH2D4A,STMN4,REEP4,DOCK5,CHMP7,TUBBP1,LONRF1,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,SDAD1P1,R3HCC1,GULOP,GNRH1,GFRA2,GSR,GTF2E2,LINC02209,SCARA5,MICU3,PSME2P5,LINC02153,OR7E8P,MRPL49P2,NUGGC,HSPA8P11,RPL5P22,MIR320A,OR6R2P,LINC00589,C8orf58,MBOAT4,KCTD9P6,MIR383,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,BTF3P3,RBPMS-AS1,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,RPL35P6,RPL30P9,RPL23AP55,DNAJB6P2,MIR548H4,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RNA5SP256,MIR5692A2,RNA5SP255,MTND4P7,LZTS1-AS1,RNU5A-3P,HMGB1P23,LINC00681,PCM1,PDGFRL,PPP2R2A,PPP3CC,PPP2CB,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,RNU6-1218P,RNU6-178P,RNU6-397P,RN7SL303P,SUMO2P16,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,HMBOX1-IT1,RNU6-1086P,RNU1-148P,RNU6-1276P,MTND4LP26,RNU6-842P,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,FZD3,FGF17,WRN,HIKESHIP3,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,PNMA2,OR7E10P,NPM2,RBPMS,LZTS1,ADAM28,DCTN6,DLC1,KIF13B,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_39
Unknown
ASAH1,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,FGL1,EGR3,DMTN,EPHX2,DUSP4,FGF20,ADAMDEC1,SCARA3,CNOT7,SARAF,SLC25A37,MAP2K1P1,ZDHHC2,ELP3,INTS10,CCDC25,KCTD9,PIWIL2,ZNF395,INTS9,CCAR2,TRMT9B,TEX15,HR,MTUS1,PBK,BIN3,CSGALNACT1,PDLIM2,NUDT18,HMBOX1,EBF2,SH2D4A,STMN4,REEP4,DOCK5,CHMP7,TUBBP1,LONRF1,FAM86B1,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,SDAD1P1,R3HCC1,GULOP,GNRH1,GFRA2,GSR,GTF2E2,DEFB130A,DEFB109A,LINC02209,SCARA5,MICU3,PSME2P5,LINC02153,OR7E8P,MRPL49P2,USP17L2,ZNF705CP,NUGGC,HSPA8P11,FAM90A25P,USP17L7,RPL5P22,MIR320A,OR6R2P,LINC00589,C8orf58,DEFB108D,MBOAT4,MIR383,DEFB109D,DEFB108E,RPS15AP24,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,FAM86B2,ZNF705D,BTF3P3,FAM90A2P,RBPMS-AS1,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,FAM66A,FAM66D,RPL35P6,RPL30P9,RPL23AP55,RPS3AP34,DEFB131D,DNAJB6P2,RPS3AP35,MIR548H4,ALG1L12P,MIR3926-1,MIR3148,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,SMIM18,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RNA5SP256,MIR5692A2,RNA5SP255,MTND4P7,LZTS1-AS1,RNU5A-3P,HMGB1P23,LINC00681,PCM1,PDGFRL,PPP2R2A,PPP3CC,PPP2CB,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,RNU6-1218P,RNU6-178P,RNU6-397P,ENPP7P12,RN7SL303P,ALG1L11P,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,HMBOX1-IT1,RNU6-1086P,RNU1-148P,RNU6-1276P,RNA5SP254,MTND4LP26,RNU6-842P,ENPP7P6,INTS9-AS1,TNFRSF10A-AS1,PPIAP84,TNFRSF10A,TNFRSF10B,TUSC3,UBXN8,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,FZD3,FGF17,HIKESHIP3,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,PNMA2,OR7E10P,NPM2,RBPMS,LZTS1,ADAM28,DCTN6,DLC1,KIF13B,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14,LEPROTL1
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_40
Unknown
ASAH1,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,FGL1,EGR3,DMTN,EPHX2,DUSP4,FGF20,ADAMDEC1,SCARA3,CNOT7,SLC25A37,ZDHHC2,ELP3,INTS10,CCDC25,KCTD9,PIWIL2,ZNF395,INTS9,CCAR2,TRMT9B,HR,MTUS1,PBK,BIN3,CSGALNACT1,PDLIM2,NUDT18,HMBOX1,EBF2,SH2D4A,STMN4,REEP4,DOCK5,CHMP7,LONRF1,FAM86B1,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,SDAD1P1,R3HCC1,GULOP,GNRH1,GFRA2,DEFB130A,DEFB109A,SCARA5,MICU3,PSME2P5,LINC02153,OR7E8P,MRPL49P2,USP17L2,ZNF705CP,NUGGC,FAM90A25P,USP17L7,RPL5P22,MIR320A,OR6R2P,LINC00589,C8orf58,DEFB108D,MIR383,DEFB109D,DEFB108E,CCT3P1,SINHCAFP3,RPL17P33,ADAM24P,RPL32P19,TMEM97P2,FAM86B2,ZNF705D,BTF3P3,FAM90A2P,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,FAM66A,FAM66D,RPL35P6,RPL30P9,RPL23AP55,RPS3AP34,DEFB131D,DNAJB6P2,RPS3AP35,MIR548H4,ALG1L12P,MIR3926-1,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RNA5SP256,MIR5692A2,RNA5SP255,MTND4P7,LZTS1-AS1,HMGB1P23,LINC00681,PCM1,PDGFRL,PPP2R2A,PPP3CC,PNOC,LINC02099,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,RNU6-178P,RNU6-397P,ENPP7P12,RN7SL303P,ALG1L11P,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,HMBOX1-IT1,RNU6-1086P,RNU1-148P,RNU6-1276P,RNA5SP254,MTND4LP26,RNU6-842P,ENPP7P6,INTS9-AS1,TNFRSF10A-AS1,TNFRSF10A,TNFRSF10B,TUSC3,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,FZD3,FGF17,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,PNMA2,OR7E10P,NPM2,LZTS1,ADAM28,DLC1,KIF13B,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_41
Unknown
ASAH1,CHRNA2,CLU,NATP,NAT1,ADRA1A,BNIP3L,ATP6V1B2,BMP1,POLR3D,NAT2,EXTL3,DPYSL2,PTK2B,FGL1,EGR3,DMTN,EPHX2,FGF20,ADAMDEC1,SCARA3,CNOT7,SLC25A37,ZDHHC2,ELP3,INTS10,CCDC25,KCTD9,PIWIL2,ZNF395,INTS9,CCAR2,TRMT9B,HR,MTUS1,PBK,BIN3,CSGALNACT1,PDLIM2,NUDT18,HMBOX1,EBF2,SH2D4A,STMN4,REEP4,DOCK5,CHMP7,LONRF1,NKX2-6,VPS37A,SGCZ,PPM1AP1,C8orf48,LGI3,PEBP4,FBXO16,CDCA2,ESCO2,SDAD1P1,R3HCC1,GULOP,GNRH1,GFRA2,SCARA5,MICU3,PSME2P5,LINC02153,OR7E8P,MRPL49P2,NUGGC,RPL5P22,MIR320A,OR6R2P,C8orf58,MIR383,CCT3P1,SINHCAFP3,ADAM24P,RPL32P19,TMEM97P2,BTF3P3,LPL,NEFL,MSR1,LOXL2,NKX3-1,NEFM,EIF4EP5,RPL35P6,RPL30P9,RPL23AP55,DNAJB6P2,MIR548H4,MIR3926-1,MIR4287,MIR3622B,MIR3622A,MIR4288,COX6B1P4,MIR548V,MIR3926-2,RNA5SP258,RNA5SP257,RNA5SP260,RNA5SP259,RNA5SP256,MIR5692A2,RNA5SP255,MTND4P7,LZTS1-AS1,HMGB1P23,LINC00681,PCM1,PDGFRL,PPP2R2A,PPP3CC,PNOC,EXTL3-AS1,MIR6841,MIR6842,MIR6843,MIR6876,RNU7-153P,SLC18A1,SLC7A2,SFTPC,STC1,RNU6-178P,RNU6-397P,RN7SL303P,RNU4-71P,RNU6-336P,RN7SL474P,RNU6-892P,HMBOX1-IT1,RNU6-1086P,RNU1-148P,RNU6-1276P,MTND4LP26,RNU6-842P,INTS9-AS1,TNFRSF10A-AS1,TNFRSF10A,TNFRSF10B,TUSC3,TNFRSF10C,ADAM7,OR7E15P,TNFRSF10D,FZD3,FGF17,MTMR7,ENTPD4,PHYHIP,DOK2,SORBS3,PNMA2,OR7E10P,NPM2,LZTS1,ADAM28,DLC1,KIF13B,XPO7,RHOBTB2,TRIM35,PSD3,SLC39A14
sajan_13_ACC/CBLH/PMG_discovery_cases-case1041-0
qPCR
De novo
Unknown
Unknown
OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,RNU6-842P,MTND4P7,RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,MIR383,PPM1AP1,MRPL49P2,RN7SL474P,FGF20,ADAM24P,MIR548V,RNA5SP256,MTND4LP26,NATP,RPL35P6,RPL30P9,RNU6-892P,RNA5SP257,TMEM97P2,OR6R2P,DOK2,FGF17,NUDT18,REEP4,SFTPC,PHYHIP,MIR320A,RNU6-336P,C8orf58,RN7SL303P,TNFRSF10C,TNFRSF10A-AS1,RPL23AP55,RNU4-71P,SINHCAFP3,NKX3-1,NKX2-6,STC1,RNU1-148P,NEFM,MIR6841,MIR6876,GNRH1,RNA5SP258,COX6B1P4,MIR548H4,MIR6842,MIR6843,RNU6-1086P,MIR3622B,MIR3622A,RNU6-1276P,MIR4287,RPL5P22,RNU6-178P,MIR4288,RNA5SP259,EXTL3-AS1,INTS9-AS1,RNA5SP260,HMGB1P23,RPL17P33,MIR3148,MAP2K1P1,RNU6-1218P,RPS15AP24,MBOAT4,HSPA8P11,PPIAP84,TUBBP1,RBPMS-AS1,SMIM18,RNU5A-3P,SUMO2P16,KCTD9P6,RNA5SP261,RNA5SP262,RNA5SP263,NRG1-IT3,RNU6-663P,MTND1P6,MTND2P32,RANP9,RNU6-528P,SNORD13,RPL10P18,RN7SL621P,DUSP26,BUD31P1,RN7SL457P,VENTXP5,RPL10AP3,LSM12P1,LONRF1,LINC00681,CNOT7,PDGFRL,FGL1,ASAH1,NAT2,SH2D4A,INTS10,SLC18A1,ATP6V1B2,LZTS1,LZTS1-AS1,LINC02153,XPO7,NPM2,DMTN,FAM160B2,HR,BMP1,POLR3D,PPP3CC,SORBS3,PDLIM2,CCAR2,BIN3,EGR3,RHOBTB2,TNFRSF10D,CHMP7,R3HCC1,ENTPD4,SLC25A37,ADAM28,ADAMDEC1,NEFL,CDCA2,SDAD1P1,PNMA2,ADRA1A,STMN4,TRIM35,CHRNA2,GULOP,CLU,CCDC25,PBK,PNOC,ZNF395,HMBOX1-IT1,DUSP4,LINC00589,LINC02209,SARAF,DCTN6,GTF2E2,GSR,UBXN8,TEX15,PURG,TTI2,MAK16,LINC01288,TRMT9B,DLC1,MSR1,MICU3,ZDHHC2,VPS37A,MTMR7,SLC7A2,MTUS1,PCM1,NAT1,CSGALNACT1,GFRA2,LGI3,PIWIL2,SLC39A14,PEBP4,TNFRSF10A,LOXL2,ADAM7,DOCK5,KCTD9,EBF2,PPP2R2A,BNIP3L,DPYSL2,PTK2B,EPHX2,SCARA3,ESCO2,SCARA5,NUGGC,ELP3,FBXO16,FZD3,EXTL3,INTS9,HMBOX1,KIF13B,LINC02099,LEPROTL1,PPP2CB,WRN,NRG1-IT1,FUT10,SGCZ,TUSC3,PSD3,LPL,TNFRSF10B,RBPMS,NRG1,UNC5D,RNF122
sajan_13_ACC/CBLH/PMG_discovery_cases-case1610-0
qPCR
De novo
Unknown
Unknown
OR7E8P,OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,RNU6-842P,MTND4P7,RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,MIR383,PPM1AP1,MRPL49P2,RN7SL474P,FGF20,ADAM24P,MIR548V,RNA5SP256,MTND4LP26,NATP,RPL35P6,RPL30P9,RNU6-892P,RNA5SP257,TMEM97P2,OR6R2P,DOK2,FGF17,NUDT18,REEP4,SFTPC,PHYHIP,MIR320A,RNU6-336P,C8orf58,RN7SL303P,TNFRSF10C,TNFRSF10A-AS1,RPL23AP55,RNU4-71P,SINHCAFP3,NKX3-1,NKX2-6,STC1,RNU1-148P,NEFM,MIR6841,MIR6876,GNRH1,RNA5SP258,COX6B1P4,MIR548H4,MIR6842,MIR6843,RNU6-1086P,MIR3622B,MIR3622A,RNU6-1276P,MIR4287,RPL5P22,RNU6-178P,MIR4288,RNA5SP259,EXTL3-AS1,INTS9-AS1,RNA5SP260,HMGB1P23,RPL17P33,MIR3148,MAP2K1P1,RNU6-1218P,RPS15AP24,MBOAT4,HSPA8P11,PPIAP84,TUBBP1,RBPMS-AS1,SMIM18,RNU5A-3P,SUMO2P16,KCTD9P6,RNA5SP261,RNA5SP262,RNA5SP263,NRG1-IT3,RNU6-663P,MTND1P6,MTND2P32,RANP9,LONRF1,LINC00681,CNOT7,PDGFRL,FGL1,ASAH1,NAT2,SH2D4A,INTS10,SLC18A1,ATP6V1B2,LZTS1,LZTS1-AS1,LINC02153,XPO7,NPM2,DMTN,FAM160B2,HR,BMP1,POLR3D,PPP3CC,SORBS3,PDLIM2,CCAR2,BIN3,EGR3,RHOBTB2,TNFRSF10D,CHMP7,R3HCC1,ENTPD4,SLC25A37,ADAM28,ADAMDEC1,NEFL,CDCA2,SDAD1P1,PNMA2,ADRA1A,STMN4,TRIM35,CHRNA2,GULOP,CLU,CCDC25,PBK,PNOC,ZNF395,HMBOX1-IT1,DUSP4,LINC00589,LINC02209,SARAF,DCTN6,GTF2E2,GSR,UBXN8,TEX15,PURG,TRMT9B,DLC1,MSR1,MICU3,ZDHHC2,VPS37A,MTMR7,SLC7A2,MTUS1,PCM1,NAT1,CSGALNACT1,GFRA2,LGI3,PIWIL2,SLC39A14,PEBP4,TNFRSF10A,LOXL2,ADAM7,DOCK5,KCTD9,EBF2,PPP2R2A,BNIP3L,DPYSL2,PTK2B,EPHX2,SCARA3,ESCO2,SCARA5,NUGGC,ELP3,FBXO16,FZD3,EXTL3,INTS9,HMBOX1,KIF13B,LINC02099,LEPROTL1,PPP2CB,WRN,NRG1-IT1,SGCZ,TUSC3,PSD3,LPL,TNFRSF10B,RBPMS,NRG1
Controls
No Control Data Available
No Animal Model Data Available