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15q24.1-q24.2CNV Type: Deletion


Largest CNV size: 2528039 bp

Statistics Box:
Number of Reports: 8



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

Decipher Symbol                         Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.
Deletion
A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report.
Deletion
NA
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Deletion-Duplication
NA
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 ahram_17_ASD/DD/EP_discovery_cases
 Six-year-old girl of Arabic ethnic origin born to consanguineous parents presenting with a de novo 15q24.1-q24.2 deletion
 1
 Case diagnosed with pervasive developmental disorder-not otherwise specified (PDD-NOS) by ADI-R and ADOS and with developmental delay by CAPTURE (CAT/CLAMS) scale at 42 months of age. Case also presented with epilepsy/seizures (three episodes of generalized tonic-clonic seizures, one of which was febrile) and absent speech.
 6 years
 Female
 2520000
 1
 0
 1
 coe_14_ASD/DD/ID_discovery_cases
 Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
 29085
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 2570000
 20
 10
 30
 firouzabadi_16_ASD_discovery_cases
 Sporadic ASD cases born to unrelated parents with no family history of ASD, with an additional ASD case with an affected father
 15
 ASD cases met DSM5 criteria and were diagnosed by pediatric neurologists specializing in autism
 N/A
 N/A
 2500000
 1
 0
 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
 2990649
 2
 1
 3
 kushima_18_SCZ_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 2458
 Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
 Median age, 44 years
 55.0% Male
 2636695
 0
 1
 1
 liu_20_ASD_discovery_cases
  NA NA
 Chinese male with a 2.58-Mb de novo deletion at chromosome 15q24
 1
 Case was diagnosed with autism spectrum disorder according to DSM-IV
 6 years
 Male
 2580679
 1
 0
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 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
 2400000
 1
 0
 1
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 2528039
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 coe_14_ASD/DD/ID_discovery_controls
 Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
 19584
 Control
 N/A
 N/A
 2570000
 0
 0
 0
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 1268640
 1
 0
 1
 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
 kushima_18_ASD/SCZ_discovery_controls
 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
 2095
 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
 Median age, 37 years
 52.0% Male
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 ahram_17_ASD/DD/EP_discovery_cases
  Arabic
 Solid phase hybridization
  Illumina OmniExpress 700K
 
 GenomeStudio V.2011
 qRT-PCR
 coe_14_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  N/A
 
 
 None
 firouzabadi_16_ASD_discovery_cases
  Iranian
 aCGH
  BlueGnome CytoChip ISCA 8x60K v2.0
 
 BlueFuse Multi v3
 FISH
 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
 kushima_18_SCZ_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 liu_20_ASD_discovery_cases
  Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Command Console v.3.1
 RT-qPCR
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  coe_14_ASD/DD/ID_discovery_controls
  N/A
  aCGH, solid phase hybridization
  Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
 
 
  None
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  ahram_17_ASD/DD/EP_discovery_cases-case1
 6 yrs.
 F
 ASD (PDD-NOS), developmental delay, and epilepsy
 Case diagnosed with pervasive developmental disorder-not otherwise specified (PDD-NOS) by ADI-R and ADOS and with developmental delay by CAPTURE (CAT/CLAMS) scale at 42 months of age. Birth/neonatal history: delivered at full term by C-section; birth weight of 2700 g. Developmental milestones: sat without support at 8 months, crawled at 10 months, walked at 18 months; two-word vocabulary by the age of 3 years which she has since lost (regression). Language and communication evaluation: non-verbal (absent speech), uses pointing and gestures to communicate with her family. Behavioral/psychiatric evaluation: considerable hyperactivity, communication deficits, abstract thinking, poor interaction with other children, stereotypical patterns of behavior. Epilepsy/seizures: presented with three episodes of generalized tonic-clonic seizures, one of which was febrile, at age of 8 months; treated with valproic acid with good seizure control that prompted its withdrawal after a seizure-free period of 4 years. Dysmorphic features: no demonstrable dysmorphic features or associated congenital anomalies. Growth parameters: head circumference 50.5 cm (50th %ile). Family history: born to consanguineous parents (third cousins); family history positive for a mother with migraine and history of febrile convulsions as a child (both parents otherwise clinically unaffected).
 Developmental delay
 72672818
 75191411
  2518594
 GRCh38
 Deletion
 Yes
  coe_14_ASD/DD/ID_discovery_cases-case53
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 72670606
 75240606
  2570001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case54
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 72670606
 75240606
  2570001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case55
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 72670606
 75240606
  2570001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case56
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 72670606
 75240606
  2570001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case57
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 72670606
 75240606
  2570001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case58
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 72670606
 75240606
  2570001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case59
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 72670606
 75240606
  2570001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case60
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 72670606
 75240606
  2570001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case61
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 72670606
 75240606
  2570001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case62
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 72670606
 75240606
  2570001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case63
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 73720606
 75240606
  1520001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case64
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 73720606
 75240606
  1520001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case65
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 73720606
 75240606
  1520001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case66
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 73720606
 75240606
  1520001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case67
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 73720606
 75240606
  1520001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case68
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 73720606
 75240606
  1520001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case69
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 73720606
 75240606
  1520001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case70
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 73720606
 75240606
  1520001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case71
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 73720606
 75240606
  1520001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case72
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 73720606
 75240606
  1520001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case73
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 73720606
 75240606
  1520001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case74
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 73720606
 75240606
  1520001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case75
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 73720606
 75240606
  1520001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case76
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 73720606
 75240606
  1520001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case77
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 73720606
 75240606
  1520001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case78
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 73720606
 75240606
  1520001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case79
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 73720606
 75240606
  1520001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case80
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 73720606
 75240606
  1520001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case81
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 73720606
 75240606
  1520001
 GRCh38
 Duplication
 No
  coe_14_ASD/DD/ID_discovery_cases-case82
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 73720606
 75240606
  1520001
 GRCh38
 Duplication
 No
  firouzabadi_16_ASD_discovery_cases-patient1
 18 yrs.
 M
 ASD
 Case met DSM5 criteria for ASD and was diagnosed by pediatric neurologists specializing in autism. Behavioral/psychiatric evaluation: aggressive behavior. Epilepsy/seizures: seizures. Dysmorphic features: dysmorphic facial features. Growth parameters: macrocephaly. Note: CNV locus given as 15q23-q24.1 on UCSC Genome Browser using start and end points reported in report.
 Intellectual disability
 70458714
 73030013
  2571300
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case0813
 NA
 NA
 Developmental delay
 NA
 NA
 74070606
 75680604
  1609999
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0814
 NA
 NA
 Developmental delay
 NA
 NA
 74070606
 75680604
  1609999
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0815
 NA
 NA
 Developmental delay
 NA
 NA
 74070606
 75680604
  1609999
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0816
 NA
 NA
 Developmental delay
 NA
 NA
 74070606
 75680604
  1609999
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0817
 NA
 NA
 Developmental delay
 NA
 NA
 74070606
 75680604
  1609999
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0818
 NA
 NA
 Developmental delay
 NA
 NA
 74070606
 75680604
  1609999
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0819
 NA
 NA
 Developmental delay
 NA
 NA
 74070606
 75680604
  1609999
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0820
 NA
 NA
 Developmental delay
 NA
 NA
 74070606
 75680604
  1609999
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0821
 NA
 NA
 Developmental delay
 NA
 NA
 74070606
 75680604
  1609999
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0822
 NA
 NA
 Developmental delay
 NA
 NA
 74070606
 75680604
  1609999
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0823
 NA
 NA
 Developmental delay
 NA
 NA
 74070606
 75680604
  1609999
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0824
 NA
 NA
 Developmental delay
 NA
 NA
 74070606
 75680604
  1609999
 GRCh38
 Duplication
 NA
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001082
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 72671629
 75662276
  2990648
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005287
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 72629028
 75242989
  2613962
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005301
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 74106871
 75727625
  1620755
 GRCh38
 Deletion
 Yes
  kushima_18_SCZ_discovery_cases-caseSCZ1825
 41 yrs.
 F
 Schizophrenia
 No additional clinical information reported for this individual. Family history: unknown.
 
 72640623
 75277317
  2636695
 GRCh38
 Duplication
 N/A
  liu_20_ASD_discovery_cases-case1
  NA NA
 6 yrs.
 M
 ASD
 Case was diagnosed with ASD according to DSM-IV. Birth/neonatal history: born by Caesarean section at term; birth weight 3.45 kg. Developmental milestones: sat without support at 8 months, started to walk at 18 months; speech delay (no speech at 2.5 years). Language and communication evaluation: able to speak two words ("mama" and "papa") at 6 years. Motor and musculoskeletal evaluation: pes planus, pigeon-toed in left foot, uncoordinated movements. Behavioral/psychiatric evaluation: poor eye contact, lack of facial expression and initiative response, hyperactivity, stereotypy (repetitive pacing, rocking in circles). EEG: normal. Brain imaging: normal. Auditory evaluation: hearing loss in left ear. Dysmorphic features: none reported. Family history: first child of healthy unrelated parents of Chinese ethnicity; no reported family history of neuropsychiatric disease.
 
 72671803
 75252481
  2580679
 GRCh38
 Deletion
 Yes
  maini_18_ASD/DD/ID_discovery_cases-case_unknown43
  NA NA
 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
 
 72709730
 75141828
  2432099
 GRCh38
 Deletion
 No
  rosenfeld_10_ASD_discovery_cases-case28827
 NA
 NA
 ASD
 NA
 NA
 70794484
 73322523
  2528039
 Unknown
 Deletion
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB136270_1007872262
  N/A
  N/A
  Control
  No previous psychiatric history
 
  74882685
  76151323
  1268639
  GRCh38
  Deletion
  No
  wang_10_ASD_discovery_controls-Aut10
  48
  M
  Control
  NA
  NA
  72703695
  75236841
  2533147
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 ahram_17_ASD/DD/EP_discovery_cases-case1
 qRT-PCR
 
 De novo
 Simplex
 Likely segregated
 NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case53
 
 
 Unknown
 Unknown
 
 NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case54
 
 
 Unknown
 Unknown
 
 NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case55
 
 
 Unknown
 Unknown
 
 NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case56
 
 
 Unknown
 Unknown
 
 NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case57
 
 
 Unknown
 Unknown
 
 NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case58
 
 
 Unknown
 Unknown
 
 NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case59
 
 
 Unknown
 Unknown
 
 NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case60
 
 
 Unknown
 Unknown
 
 NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case61
 
 
 Unknown
 Unknown
 
 NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case62
 
 
 Unknown
 Unknown
 
 NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case63
 
 
 Unknown
 Unknown
 
 DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case64
 
 
 Unknown
 Unknown
 
 DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case65
 
 
 Unknown
 Unknown
 
 DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case66
 
 
 Unknown
 Unknown
 
 DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case67
 
 
 Unknown
 Unknown
 
 DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case68
 
 
 Unknown
 Unknown
 
 DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case69
 
 
 Unknown
 Unknown
 
 DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case70
 
 
 Unknown
 Unknown
 
 DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case71
 
 
 Unknown
 Unknown
 
 DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case72
 
 
 Unknown
 Unknown
 
 DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case73
 
 
 Unknown
 Unknown
 
 DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case74
 
 
 Unknown
 Unknown
 
 DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case75
 
 
 Unknown
 Unknown
 
 DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case76
 
 
 Unknown
 Unknown
 
 DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case77
 
 
 Unknown
 Unknown
 
 DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case78
 
 
 Unknown
 Unknown
 
 DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case79
 
 
 Unknown
 Unknown
 
 DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case80
 
 
 Unknown
 Unknown
 
 DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case81
 
 
 Unknown
 Unknown
 
 DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 coe_14_ASD/DD/ID_discovery_cases-case82
 
 
 Unknown
 Unknown
 
 DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 firouzabadi_16_ASD_discovery_cases-patient1
 FISH
 
 De novo
 Simplex
 Likely segregated
 LINC02205,SALRNA3,SALRNA2,RPL29P30,KRT8P9,THAP10,RPL5P3,CT62,HMGB1P6,RNA5SP399,EIF5A2P1,RNU2-65P,HEXA-AS1,RPL12P35,PHBP20,MIR630,RN7SL853P,NPM1P42,LINC02204,UACA,LARP6,NR2E3,SENP8,GRAMD2A,PARP6,CELF6,TMEM202,TMEM202-AS1,GOLGA6B,HIGD2B,BBS4,ADPGK,ADPGK-AS1,LRRC49,THSD4-AS1,MYO9A,PKM,ARIH1,LINC02259,THSD4,HEXA
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0813
 NA
 
 Unknown
 Unknown
 Unknown
 RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0814
 NA
 
 Unknown
 Unknown
 Unknown
 RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0815
 NA
 
 Unknown
 Unknown
 Unknown
 RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0816
 NA
 
 Unknown
 Unknown
 Unknown
 RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0817
 NA
 
 Unknown
 Unknown
 Unknown
 RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0818
 NA
 
 Unknown
 Unknown
 Unknown
 RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0819
 NA
 
 Unknown
 Unknown
 Unknown
 RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0820
 NA
 
 Unknown
 Unknown
 Unknown
 RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0821
 NA
 
 Unknown
 Unknown
 Unknown
 RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0822
 NA
 
 Unknown
 Unknown
 Unknown
 RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0823
 NA
 
 Unknown
 Unknown
 Unknown
 RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0824
 NA
 
 Unknown
 Unknown
 Unknown
 RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001082
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005287
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL853P,NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,GOLGA6B,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LINC02259,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005301
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,ODF3L1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
 
 kushima_18_SCZ_discovery_cases-caseSCZ1825
 While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
 
 Unknown
 Unknown
 Unknown
 RN7SL853P,NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,GOLGA6B,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 liu_20_ASD_discovery_cases-case1
 RT-qPCR
 
 De novo
 Simplex
 Segregated
 NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,COMMD4P2,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,SCAMP5,PPCDC,UBL7
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown43
 
 
 De novo
 Unknown
 Unknown
 NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 
 rosenfeld_10_ASD_discovery_cases-case28827
 FISH
 
 Unknown
 Unknown
 Unknown
 BBS4,ADPGK,NEO1,HCN4,C15orf60,NPTN,CD276,C15orf59,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,ISLR,STRA6,CCDC33,CYP11A1,SEMA7A,UBL7,ARID3B,CLK3,EDC3,CYP1A1,CYP1A2,CSK,LMAN1L,CPLX3,ULK3,SCAMP2,MPI,C15orf17,COX5A,RPP25,SCAMP5,PPCDC,C15orf39
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB136270_1007872262
 
 
  Unknown
 
 
  FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,DNM1P35,PPIAP47,MIR4313,RN7SL319P,RN7SL510P,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,ODF3L1,DNM1P49,FBXO22,SCAMP5,PPCDC,MAN2C1,UBE2Q2,NRG4,TMEM266,PTPN9
 
wang_10_ASD_discovery_controls-Aut10
 
 
  Unknown
  NA
  NA
  NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
 

No Animal Model Data Available
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