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3p22.1CNV Type: Deletion


Largest CNV size: 4317000 bp

Statistics Box:
Number of Reports: 13



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 dubruc_14_ID_discovery_cases
 5.5-year-old female patient born to healthy non-consanguineous parents evaluated by genetics department (Genetics Service, Hospices Civils de Lyon, Hopital Femme-Mere-Enfant, and Eastern Biology and Pathology Centre, Bron Cedex, France)
 1
 Intellectual disability, microcephaly, progressive ataxia and spasticity
 5 yrs. 6 mos.
 Female
 333000
 1
 0
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 532580
 8
 0
 8
 fry_16_DD/ID/EP/ASD_discovery_cases
 Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales
 80
 All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)
 Range, <1 yr.-60 yrs.
 45.0% Male
 465000
 1
 0
 1
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 286000
 1
 0
 1
 gregory_09_ASD_discovery_cases
 Probands from multiplex autism families
 119
 Idiopathic autism, minimum IQ equivalent of 35 or Vineland Adaptive Behavior Scale age equivalent of 18 months
 
 78.15% Male
 229104
 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
 669776
 0
 2
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 12954
 1
 0
 1
 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
 201552
 3
 0
 3
 li_18_ASD_discovery_cases
 Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research
 13
 Diagnosis of ASD made according to DSM-IV
 Mean age, 4.56 0.97 years
 92.31% Male
 242844
 0
 1
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 11873
 0
 1
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 56974
 36
 0
 36
 shen_10_ASD_discovery_cases
 Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
 848
 ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
 
 
 4317000
 1
 0
 1
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 56986
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 69073
 5
 2
 7
 gregory_09_ASD_discovery_controls
 Samples from 27 sex-mismatched hybridizations
 54
 Controls
 
 50% Male
 229104
 0
 0
 0
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 23637
 1
 0
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 0
 0
 0
 0
 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
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 14734
 1
 0
 1
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 54260
 1
 0
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 11873
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 56974
 21
 0
 21
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 56986
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 dubruc_14_ID_discovery_cases
  France
 aCGH
  Agilent 244A
 
 DNA Analytics v.4.0.73
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 fry_16_DD/ID/EP/ASD_discovery_cases
  78 White British, 1 South Asian, 1 Mixed White/South Asian
 aCGH, solid phase hybridization
  Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
 PennCNV
 Illumina BlueFuse Multi v3.1
 Solid phase hybridization (Illumina)
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 gregory_09_ASD_discovery_cases
 
 aCGH
  BACs aCGH
 BioDiscovery RSA
 Bluefuse, Nexus
 aCGH
 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
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 kushima_18_SCZ_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 li_18_ASD_discovery_cases
  Chinese
 Low-coverage WGS
  Illumina HiSeq 2000 or 2500 analyzers
 PSCC
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 shen_10_ASD_discovery_cases
 
 aCGH, array SNP
  Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
 BRLMM, CNAT4, Partek Genomic Suite
 CGH Analytics, DNA Analytics software
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  gregory_09_ASD_discovery_controls
 
  aCGH
  BACs aCGH
  BioDiscovery RSA
  Bluefuse, Nexus
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  None
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  dubruc_14_ID_discovery_cases-case1
 5 yrs. 6 mos.
 F
 Intellectual disability
 Birth/neonatal history: IUGR observed on ultrasound during pregnancy; birth induced at 36 weeks gestation due to decrease in fetal heart rate; umbilical cord wrapped around neck at birth; birth weight of 2100 g (-1.5 SD), length of 43.5 cm (-2 SD), and OFC of 30.5 cm (-2 SD); Apgar scores of 3, 5, and 9; intubated shortly after birth due to IRDS; extubation followed shortly after transfer to NICU where she was treated with surfactant. Developmental milestones: able to sit unaided from 14 months of age, stood at 30 months of age, learning to walk with aid at 3 years 7 months. Language and communication evaluation: orofacial dyspraxia, able to say 50 words and to combine two words, and comprehension apparently better than expression skills noted during previous evaluations; able to combine several words, count to 10, and understand simple commands at age of 4.5 years. Motor and musculoskeletal evaluation: truncal hypotonia, normal fine motor skills, and hyperextensible joints noted at previous evaluations; able to take a few steps unaided, ataxic gait and spasticity of lower limbs with brisk polykinetic deep tendon reflexes and a Babinski response noted at age of 4.5 years. Behavioral/psychiatric evaluation: friendly and sociable behavior; presented symptoms of hyperactivity, able to focus on simple tasks for short periods only. EEG: unremarkable. Brain imaging: brain MRI performed at 15 months showed mild dilation of ventricles. Vision/hearing evaluation: significant hyperopia. Dysmorphic features: thin, fair, and sparse hair, fair skin, thin lips, low-set ears, sacral dimple. Growth parameters: microcephaly; height of 105 cm (-1 SD) and OFC of 47 cm (between -2.5 and -3 SD). Family history: born to healthy non-consanguineous parents; one healthy older sister.
 Intellectual disability
 41063017
 41395906
  332890
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case14330_4440
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 41052084
 41103204
  51121
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case16047_1571096001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 41052084
 41103204
  51121
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case18100_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 41336500
 41869079
  532580
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20195_1736001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 41266958
 41302363
  35406
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3025_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 41052084
 41103204
  51121
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3082_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43012656
 43114647
  101992
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3558_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 41813792
 41888727
  74936
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8656_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 43454252
 43503344
  49093
 GRCh38
 Deletion
 No
  fry_16_DD/ID/EP/ASD_discovery_cases-caseR660
 21 yrs.
 M
 ASD, intellectual disability and epilepsy
 Clinical features: moderate-to-severe intellectual disability, ASD (autistic features), challenging behavior (aggressive behavior), depression, dysmorphic features (hypertelorism, midface hypoplasia, prognathism). Age of seizure onset: 8 months. Epilepsy syndrome: genetic generalized epilepsy with ID. Seizure types: absence seizures, myoclonic seizures, focal dyscognitive seizures, evolution to bilateral or convulsive seizures.
 Moderate-to-severe intellectual disability
 41318042
 41783063
  465022
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-14274.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 41293505
 41583505
  290001
 GRCh38
 Deletion
 No
  gregory_09_ASD_discovery_cases-200504293
 NA
 
 ASD
 NA
 NA
 40917582
 41146596
  229015
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002668
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 41896597
 42336619
  440023
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004745
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 41880503
 42550279
  669777
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12959.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 40388057
 40401011
  12955
 GRCh38
 Deletion
 Yes
  kushima_18_SCZ_discovery_cases-caseSCZ0070
 33 yrs.
 F
 Schizophrenia
 Behavioral/psychiatric evaluation: onset of schizophrenia at 15 years of age (core symptoms include persecutory delusions, auditory hallucinations, negative symptoms). Brain imaging: high-intensity lesions in subcortical white matter on brain MRI. Family history: negative.
 IQ > 70
 41609544
 41811095
  201552
 GRCh38
 Deletion
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ0564
 37 yrs.
 M
 Schizophrenia
 Behavioral/psychiatric evaluation: onset of schizophrenia at 24 years of age (core symptoms include delusions, commanding auditory hallucinations, psychomotor agitation, negative symptoms). Congenital and developmental phenotypes: inhalant abuse. Family history: negative.
 IQ > 70
 41760954
 41858293
  97340
 GRCh38
 Deletion
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ2583
 27 yrs.
 F
 Schizophrenia
 No additional clinical information reported for this individual. Family history: unknown.
 
 41803875
 41849829
  45955
 GRCh38
 Deletion
 N/A
  li_18_ASD_discovery_cases-case5201
 N/A
 M
 ASD
 Diagnosis of ASD made according to DSM-IV
 
 41891935
 42134779
  242845
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case114092L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 41983517
 41995389
  11873
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11115.p1
 13.8
 F
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 46; verbal IQ, 19
 39722471
 39734734
  12264
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11129.p1
 4.7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
 42318783
 42330250
  11468
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11133.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
 40000885
 40024247
  23363
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11133.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
 39964094
 39967143
  3050
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11203.p1
 7.1
 F
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 95
 43511236
 43518004
  6769
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11206.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 32
 42278587
 42301829
  23243
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11246.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96
 41052084
 41109058
  56975
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11489.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 108; verbal IQ, 104
 43511236
 43518004
  6769
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11567.p1
 9.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
 40182124
 40185194
  3071
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11567.p1
 9.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
 40327497
 40372141
  44645
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11704.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
 40327497
 40372141
  44645
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11709.p1
 6.8
 F
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 62; verbal IQ, 59
 41576365
 41592977
  16613
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11710.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
 41490049
 41526471
  36423
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11846.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
 40182124
 40185194
  3071
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11869.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
 39977612
 39992498
  14887
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11917.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 115; verbal IQ, 71
 39977612
 39992498
  14887
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11919.p1
 4.1
 M
 ASD
 NA
 Full-scale IQ, 84; non-verbal IQ, 77; verbal IQ, 104
 40000885
 40024247
  23363
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11941.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 86
 40182124
 40185194
  3071
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12001.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
 43511236
 43518004
  6769
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12046.p1
 12.6
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 88; verbal IQ, 87
 40627258
 40647448
  20191
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12184.p1
 12.9
 F
 Autism
 NA
 Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
 40618064
 40656733
  38670
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12261.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
 40618064
 40647448
  29385
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12265.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 96; verbal IQ, 78
 41052084
 41103204
  51121
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12266.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
 40343844
 40372141
  28298
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12266.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
 40182124
 40185194
  3071
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12287.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 55; verbal IQ, 28
 41722156
 41754349
  32194
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12518.p1
 5.8
 M
 ASD
 NA
 Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 83
 40327497
 40372141
  44645
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12617.p1
 10.8
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 112; verbal IQ, 106
 40000885
 40031320
  30436
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12701.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
 40343844
 40372141
  28298
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12780.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 110; verbal IQ, 121
 40537324
 40589857
  52534
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13039.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 135; verbal IQ, 93
 40000885
 40024247
  23363
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13056.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
 39315616
 39366564
  50949
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13136.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 53; verbal IQ, 31
 40618064
 40647448
  29385
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13166.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 45
 40000885
 40024247
  23363
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13195.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 88; verbal IQ, 63
 43511236
 43518004
  6769
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13296.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
 40327497
 40372141
  44645
 GRCh38
 Deletion
 No
  shen_10_ASD_discovery_cases-ASD-09-035
 NA
 F
 ASD
 NA
 NA
 43426733
 47743927
  4317195
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case100
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 41697489
 41754474
  56986
 GRCh38
 Duplication
 No

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-controlB385260_1007874854
  N/A
  N/A
  Control
  No previous psychiatric history
 
  41052084
  41103204
  51121
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB401883_1007874319
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43275214
  43342149
  66936
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB466917_1007874508
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43259379
  43328452
  69074
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB555308_1007853571
  N/A
  N/A
  Control
  No previous psychiatric history
 
  41052084
  41103204
  51121
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB627204_1007846383
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43454252
  43491841
  37590
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB641961_1007872279
  N/A
  N/A
  Control
  No previous psychiatric history
 
  43449254
  43498560
  49307
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB747096_1007854180
  N/A
  N/A
  Control
  No previous psychiatric history
 
  41052084
  41103204
  51121
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split650
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  41100099
  41123735
  23637
  Unknown
  Deletion
  No
  nord_11_ASD_discovery_controls-04C28548
 
 
  Control
 
 
  39737991
  39752724
  14734
  Unknown
  Deletion
 
  poultney_13_ASD_discovery_controls-control05C42568A
  N/A
  F
  Control
  NIMH Control (NIMH ID 58494)
 
  41663605
  41717863
  54259
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11246.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  41052084
  41109058
  56975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11543.s1
  18.1
  F
  Control (matched sibling)
  NA
  NA
  40343844
  40372141
  28298
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11567.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  40182124
  40185194
  3071
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11567.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  40327497
  40372141
  44645
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11773.s1
  14.3
  M
  Control (matched sibling)
  NA
  NA
  40627258
  40656733
  29476
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11794.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  40182124
  40185194
  3071
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11869.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  39977612
  39992498
  14887
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11917.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  39977612
  39992498
  14887
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11941.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  40182124
  40185194
  3071
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12184.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  40618064
  40659655
  41592
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12235.s1
  6.7
  M
  Control (matched sibling)
  NA
  NA
  40627258
  40656733
  29476
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12368.s1
  7.2
  M
  Control (matched sibling)
  NA
  NA
  41052084
  41109058
  56975
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12424.s1
  6.2
  F
  Control (matched sibling)
  NA
  NA
  41722156
  41739626
  17471
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12424.s1
  6.2
  F
  Control (matched sibling)
  NA
  NA
  40182124
  40185194
  3071
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12690.s1
  10.6
  M
  Control (matched sibling)
  NA
  NA
  40627258
  40656733
  29476
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12780.s1
  5.9
  M
  Control (matched sibling)
  NA
  NA
  40537324
  40589857
  52534
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12944.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  40618064
  40641858
  23795
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13175.s1
  13.7
  F
  Control (matched sibling)
  NA
  NA
  42288494
  42306257
  17764
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13183.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  41722156
  41754349
  32194
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13195.s1
  10.1
  M
  Control (matched sibling)
  NA
  NA
  43511236
  43518004
  6769
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13296.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  40343844
  40372141
  28298
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 dubruc_14_ID_discovery_cases-case1
 qPCR
 
 De novo
 Simplex
 Segregated
 MRPS31P1,CTNNB1,ULK4
 
 engchuan_15_ASD_discovery_cases-case14330_4440
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case16047_1571096001
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case18100_302
 
 
 Unknown
 
 
 RN7SKP58,ATP6V0E1P2,ULK4
 
 engchuan_15_ASD_discovery_cases-case20195_1736001
 
 
 Unknown
 
 
 ULK4
 
 engchuan_15_ASD_discovery_cases-case3025_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3082_3
 
 
 Unknown
 
 
 POMGNT2
 
 engchuan_15_ASD_discovery_cases-case3558_3
 
 
 Unknown
 
 
 ATP6V0E1P2,ULK4
 
 engchuan_15_ASD_discovery_cases-case8656_201
 
 
 Unknown
 
 
 ANO10
 
 fry_16_DD/ID/EP/ASD_discovery_cases-caseR660
 Solid phase hybridization (Illumina)
 
 Maternal
 
 
 RN7SKP58,ULK4
 
 girirajan_13a_ASD_discovery_cases-14274.p1
 
 
 Unknown
 Simplex
 Unknown
 ULK4
 
 gregory_09_ASD_discovery_cases-200504293
 aCGH dye swap
 
 Unknown
 NA
 NA
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002668
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 RPL36P20,GEMIN2P2,TPMTP2,RNU4-78P,CCK,SALL4P6,TRAK1,ULK4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004745
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPL36P20,GEMIN2P2,TPMTP2,RNU4-78P,CCK,SALL4P6,EIF4BP4,LYZL4,VIPR1,VIPR1-AS1,TRAK1,SEC22C,ULK4
 
 krumm_15_ASD_discovery_cases-case12959.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 ENTPD3,ENTPD3-AS1
 
 kushima_18_SCZ_discovery_cases-caseSCZ0070
 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
 Simplex
 
 RN7SKP58,ULK4
 
 kushima_18_SCZ_discovery_cases-caseSCZ0564
 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
 Simplex
 Unknown
 RN7SKP58,ULK4
 
 kushima_18_SCZ_discovery_cases-caseSCZ2583
 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
 ULK4
 
 li_18_ASD_discovery_cases-case5201
 
 
 Unknown
 Simplex
 Unknown
 RPL36P20,GEMIN2P2,TRAK1,ULK4
 
 prasad_12_ASD_discovery_cases-case114092L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11115.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11129.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SALL4P6
 
 sanders_11_ASD_discovery_cases-11133.p1
 
 
 Unknown
 Simplex (trio)
 NA
 MYRIP
 
 sanders_11_ASD_discovery_cases-11133.p1
 
 
 Unknown
 Simplex (trio)
 NA
 MYRIP
 
 sanders_11_ASD_discovery_cases-11203.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ANO10
 
 sanders_11_ASD_discovery_cases-11206.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11246.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11489.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ANO10
 
 sanders_11_ASD_discovery_cases-11567.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 EIF1B-AS1,MYRIP
 
 sanders_11_ASD_discovery_cases-11567.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 ENTPD3-AS1
 
 sanders_11_ASD_discovery_cases-11704.p1
 
 
 Both parents
 Simplex (trio)
 NA
 ENTPD3-AS1
 
 sanders_11_ASD_discovery_cases-11709.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ULK4
 
 sanders_11_ASD_discovery_cases-11710.p1
 
 
 Unknown
 Simplex (trio)
 NA
 ULK4
 
 sanders_11_ASD_discovery_cases-11846.p1
 
 
 Maternal
 Simplex (trio)
 NA
 EIF1B-AS1,MYRIP
 
 sanders_11_ASD_discovery_cases-11869.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MYRIP
 
 sanders_11_ASD_discovery_cases-11917.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MYRIP
 
 sanders_11_ASD_discovery_cases-11919.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 MYRIP
 
 sanders_11_ASD_discovery_cases-11941.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 EIF1B-AS1,MYRIP
 
 sanders_11_ASD_discovery_cases-12001.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ANO10
 
 sanders_11_ASD_discovery_cases-12046.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12184.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12261.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12265.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12266.p1
 
 
 Paternal
 Simplex (trio)
 NA
 ENTPD3-AS1
 
 sanders_11_ASD_discovery_cases-12266.p1
 
 
 Both parents
 Simplex (trio)
 NA
 EIF1B-AS1,MYRIP
 
 sanders_11_ASD_discovery_cases-12287.p1
 
 
 Unknown
 Simplex (trio)
 NA
 ULK4
 
 sanders_11_ASD_discovery_cases-12518.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 ENTPD3-AS1
 
 sanders_11_ASD_discovery_cases-12617.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 MYRIP
 
 sanders_11_ASD_discovery_cases-12701.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 ENTPD3-AS1
 
 sanders_11_ASD_discovery_cases-12780.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RPL5P10,ZNF621
 
 sanders_11_ASD_discovery_cases-13039.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 MYRIP
 
 sanders_11_ASD_discovery_cases-13056.p1
 
 
 Maternal
 Simplex (trio)
 NA
 CCR8,HNRNPA1P21,EEF1A1P24
 
 sanders_11_ASD_discovery_cases-13136.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13166.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 MYRIP
 
 sanders_11_ASD_discovery_cases-13195.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ANO10
 
 sanders_11_ASD_discovery_cases-13296.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 ENTPD3-AS1
 
 shen_10_ASD_discovery_cases-ASD-09-035
 
 
 De novo
 NA
 NA
 RNU6-367P,MIR138-1,LINC01988,EI24P3,ZNF197-AS1,ZNF35,SOCS5P3,ZNF502,ZNF501,TMEM42,MIR564,RPL12P44,RNU5B-3P,RPS24P8,TMEM158,LIMD1-AS1,RN7SL145P,CXCR6,NRBF2P2,FLT1P1,UQCRC2P1,CCR2,CCR5,CCRL2,LINC02009,LRRC2-AS1,PRSS50,PRSS44,PRSS42,NRADDP,MRPL57P3,SNORD13P3,BOLA2P2,RN7SL870P,ABHD5,TCAIM,ZNF852,ZNF660,MPRIPP1,ZNF197,KIAA1143,TGM4,EXOSC7,CLEC3B,LARS2-AS1,SLC6A20,CCR9,FYCO1,XCR1,CCR3,CCR1,LTF,RTP3,TDGF1,FAM240A,ALS2CL,TMIE,PRSS46P,PRSS45,MYL3,PTH1R,NBEAL2,KIF9,PTPN23,ELP6,ANO10,TOPAZ1,C3orf86,ZNF445,ZKSCAN7,ZKSCAN7-AS1,KIF15,ZDHHC3,LARS2,LIMD1,SACM1L,LZTFL1,LRRC2,CCDC12,SETD2,KLHL18,SCAP,CSPG5,SMARCC1,CDCP1,KIF9-AS1
 
 yin_16_ASD_discovery_cases-case100
 
 
 Unknown
 Unknown
 Unknown
 ULK4
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB385260_1007874854
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB401883_1007874319
 
 
  Unknown
 
 
  RN7SL517P,SNRK
 
engchuan_15_ASD_discovery_controls-controlB466917_1007874508
 
 
  Unknown
 
 
  RN7SL517P,SNRK
 
engchuan_15_ASD_discovery_controls-controlB555308_1007853571
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB627204_1007846383
 
 
  Unknown
 
 
  ANO10
 
engchuan_15_ASD_discovery_controls-controlB641961_1007872279
 
 
  Unknown
 
 
  ANO10
 
engchuan_15_ASD_discovery_controls-controlB747096_1007854180
 
 
  Unknown
 
 
 
 
kanduri_15_ASD_discovery_controls-control_split650
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, ZNF621(dist=519056),CTNNB1(dist=117207)
 
nord_11_ASD_discovery_controls-04C28548
 
 
 
 
 
  0 genes
 
poultney_13_ASD_discovery_controls-control05C42568A
 
 
  Unknown
 
 
  ULK4
 
sanders_11_ASD_discovery_controls-11246.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11543.s1
 
 
  Unknown
  Simplex (quad)
  NA
  ENTPD3-AS1
 
sanders_11_ASD_discovery_controls-11567.s1
 
 
  Unknown
  Simplex (quad)
  NA
  EIF1B-AS1,MYRIP
 
sanders_11_ASD_discovery_controls-11567.s1
 
 
  Unknown
  Simplex (quad)
  NA
  ENTPD3-AS1
 
sanders_11_ASD_discovery_controls-11773.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11794.s1
 
 
  Unknown
  Simplex (quad)
  NA
  EIF1B-AS1,MYRIP
 
sanders_11_ASD_discovery_controls-11869.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MYRIP
 
sanders_11_ASD_discovery_controls-11917.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MYRIP
 
sanders_11_ASD_discovery_controls-11941.s1
 
 
  Unknown
  Simplex (quad)
  NA
  EIF1B-AS1,MYRIP
 
sanders_11_ASD_discovery_controls-12184.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12235.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12368.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12424.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ULK4
 
sanders_11_ASD_discovery_controls-12424.s1
 
 
  Maternal
  Simplex (quad)
  NA
  EIF1B-AS1,MYRIP
 
sanders_11_ASD_discovery_controls-12690.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12780.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RPL5P10,ZNF621
 
sanders_11_ASD_discovery_controls-12944.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13175.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13183.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ULK4
 
sanders_11_ASD_discovery_controls-13195.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ANO10
 
sanders_11_ASD_discovery_controls-13296.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ENTPD3-AS1
 

No Animal Model Data Available
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