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11q14.3CNV Type: Deletion-Duplication


Largest CNV size: 148507 bp

Statistics Box:
Number of Reports: 9



Summary Information

Summary statement in development

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-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
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 1685656
 5
 1
 6
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 128588
 1
 1
 2
 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
 444044
 0
 1
 1
 girirajan_13a_DD_discovery_cases
 Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
 31518
 Developmental delay
 NA
 NA
 0
 0
 0
 0
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 34596
 1
 0
 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
 103535
 6
 1
 7
 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
 91030
 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
 148507
 20
 3
 23
 wenger_16_ASD_discovery_cases
 ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
 62
 ASD
 N/A
 N/A
 2532
 1
 2
 3
 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
 215130
 2
 0
 2

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
 549402
 2
 1
 3
 girirajan_13a_ASD_discovery_controls3
 Controls assessed for CNVs within 120 SD-mediated hotspots; includes 2090 controls from Wellcome Trust Case-Control Consortium (girirajan_13_ASD_discovery_controls2)
 8329
 Control
 NA
 NA
 0
 0
 0
 0
 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
 310304
 1
 1
 2
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 34445
 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)
 103535
 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.
 
 168090
 14
 1
 15
 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
 215130
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 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
 aCGH (NimbleGen 135K array)
 girirajan_13a_DD_discovery_cases
  NA
 N/A
  N/A
 
 
 None
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 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
 
 
 wenger_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina HumanHap 550 or Illumina Human610-Quad v1.0
 PennCNV
 
 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
  girirajan_13a_ASD_discovery_controls3
  NA
  Array SNP
  N/A
 
 
  None
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  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
  engchuan_15_ASD_discovery_cases-case13118_1353
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 90316985
 90375547
  58563
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14256_3790
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 90907098
 90941693
  34596
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case17034_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 91054038
 91117964
  63927
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case18178_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 90907098
 90941693
  34596
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3419_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 90017077
 91702735
  1685659
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4512_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 91086590
 91144326
  57737
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1271304
 
 
 Autism
 
 
 91063120
 91191707
  128588
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1327304
 
 
 Autism
 
 
 90218342
 90309371
  91030
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-13944.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
 89697965
 90142009
  444045
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case18178_302
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 90907098
 90941693
  34596
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case168219
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 90175508
 90279042
  103535
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case58936L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 89019396
 89028247
  8852
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case59800L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 90428380
 90490976
  62597
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case69002
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 88590589
 88609645
  19057
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case82921L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 89546524
 89558793
  12270
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case82921L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 89473890
 89516888
  42999
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case83553L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 89631062
 89638213
  7152
 Unknown
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-005
 N/A
 N/A
 ACC-CBLH-PMG
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: N/A. Seizures: N/A.
 Developmental delay: N/A. Intellectual disability: N/A.
 90218342
 90309371
  91030
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11009.p1
 9
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 93; verbal IQ, 96
 88638771
 88647383
  8613
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11122.p1
 7.8
 F
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ 107
 90259953
 90271564
  11612
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11334.p1
 14.6
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 129; verbal IQ, 102
 88638771
 88655171
  16401
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11462.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 117; verbal IQ, 121
 90259953
 90271564
  11612
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11466.p1
 9.2
 M
 Aspergers
 NA
 Full-scale IQ, 121; non-verbal IQ, 121; verbal IQ, 113
 91151171
 91257947
  106777
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11526.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
 89709171
 89752366
  43196
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11768.p1
 8.4
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 89
 89883568
 89945718
  62151
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11773.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 50; verbal IQ, 28
 90011353
 90052496
  41144
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11969.p1
 14.3
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
 90031648
 90080178
  48531
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12074.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 82; verbal IQ, 79
 89613247
 89639356
  26110
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12201.p1
 13.3
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 131; verbal IQ, 116
 89887486
 89889800
  2315
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12257.p1
 6
 M
 ASD
 NA
 Full-scale IQ, 109; non-verbal IQ, 109; verbal IQ, 106
 88633140
 88655171
  22032
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12330.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
 90474836
 90623343
  148508
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12417.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 96; verbal IQ, 83
 91996650
 92006008
  9359
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12472.p1
 5.6
 F
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ, 112
 90259953
 90271564
  11612
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12653.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 69; verbal IQ, 97
 88638771
 88650445
  11675
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12864.p1
 5.8
 F
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 65; verbal IQ, 81
 91572786
 91583665
  10880
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12931.p1
 17.6
 M
 Autism
 NA
 Full-scale IQ, 50; non-verbal IQ, 53; verbal IQ, 45
 88638771
 88651525
  12755
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12976.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ, 82
 88747323
 88785096
  37774
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13120.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 109; verbal IQ, 118
 88747323
 88785096
  37774
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13162.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 78; verbal IQ, 72
 89887486
 89889800
  2315
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13175.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
 89741019
 89815054
  74036
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13216.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 93
 89945483
 89969500
  24018
 GRCh38
 Deletion
 No
  wenger_16_ASD_discovery_cases-case59
 N/A
 N/A
 ASD
 Prior clinical diagnosis of genetic syndrome: n/a
 
 88643633
 88646164
  2532
 GRCh38
 Deletion
 No
  wenger_16_ASD_discovery_cases-case60
 N/A
 N/A
 ASD
 Prior clinical diagnosis of genetic syndrome: n/a
 
 88800246
 88800464
  219
 GRCh38
 Duplication
 No
  wenger_16_ASD_discovery_cases-case61
 N/A
 N/A
 ASD
 Prior clinical diagnosis of genetic syndrome: n/a
 
 88800246
 88800464
  219
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case416
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 88640550
 88640901
  352
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case417
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 89711259
 89926388
  215130
 GRCh38
 Deletion
 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-controlB306257_1007873482
  N/A
  N/A
  Control
  No previous psychiatric history
 
  90406907
  90956309
  549403
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB784823_1007875340
  N/A
  N/A
  Control
  No previous psychiatric history
 
  91418566
  91596405
  177840
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900099_900099
  N/A
  N/A
  Control
  No previous psychiatric history
 
  89897800
  89945718
  47919
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1552
  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
 
  89156429
  89466732
  310304
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1552
  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
 
  89822105
  89913032
  90928
  Unknown
  Deletion
  No
  levy_11_ASD_discovery_controls-11707.s1
  NA
  F
  Control
  NA
  NA
  90110578
  90145022
  34445
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11009.s1
  7.6
  M
  Control (matched sibling)
  NA
  NA
  88638771
  88650850
  12080
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11267.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  88638771
  88647383
  8613
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11334.s1
  12.7
  M
  Control (matched sibling)
  NA
  NA
  88638771
  88647383
  8613
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11462.s1
  6.5
  M
  Control (matched sibling)
  NA
  NA
  90259953
  90271564
  11612
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11466.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  91151171
  91260690
  109520
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11645.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  90680454
  90848544
  168091
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11666.s1
  9.1
  M
  Control (matched sibling)
  NA
  NA
  88638771
  88647383
  8613
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11707.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  90173987
  90184760
  10774
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11839.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  91753352
  91754416
  1065
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11843.s1
  16.9
  F
  Control (matched sibling)
  NA
  NA
  88638771
  88647383
  8613
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11918.s1
  12.3
  M
  Control (matched sibling)
  NA
  NA
  88638771
  88646164
  7394
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12198.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  90259953
  90271564
  11612
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12351.s1
  15.3
  F
  Control (matched sibling)
  NA
  NA
  90017077
  90034816
  17740
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12976.s1
  8.5
  M
  Control (matched sibling)
  NA
  NA
  88747323
  88785096
  37774
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13120.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  88747323
  88785096
  37774
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 engchuan_15_ASD_discovery_cases-case13118_1353
 
 
 Unknown
 
 
 DISC1FP1
 
 engchuan_15_ASD_discovery_cases-case14256_3790
 
 
 Unknown
 
 
 DISC1FP1
 
 engchuan_15_ASD_discovery_cases-case17034_1
 
 
 Unknown
 
 
 OSBPL9P2,OSBPL9P3
 
 engchuan_15_ASD_discovery_cases-case18178_302
 
 
 Unknown
 
 
 DISC1FP1
 
 engchuan_15_ASD_discovery_cases-case3419_3
 
 
 Unknown
 
 
 TRIM49C,UBTFL1,TUBAP2,MIR4490,MIR1261,OSBPL9P2,OSBPL9P3,TRIM64EP,CHORDC1,DISC1FP1,NAALAD2
 
 engchuan_15_ASD_discovery_cases-case4512_1
 
 
 Unknown
 
 
 OSBPL9P2,OSBPL9P3
 
 gai_11_ASD_discovery_cases-AU1271304
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_discovery_cases-AU1327304
 
 
 Inherited
 
 
 TUBAP2,CHORDC1,DISC1FP1
 
 girirajan_13a_ASD_discovery_cases-13944.p1
 aCGH (NimbleGen 135K array)
 
 De novo
 Simplex
 Possibly segregated
 UBTFL10,TRIM77,UBTFL2,TRIM64DP,TRIM51BP,TRIM64B,MTND1P35,TRIM64,TRIM51EP,TRIM49C,UBTFL1,TRIM49,TRIM53BP,TRIM49D2,TRIM53AP,TRIM64EP,FOLH1B,TRIM49D1,NAALAD2
 
 pinto_14_ASD_discovery_cases2-case18178_302
 qPCR
 
 Maternal
 Simplex
 (not tested)
 DISC1FP1
 
 prasad_12_ASD_discovery_cases-case168219
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case58936L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case59800L
 
 
 Unknown
 Simplex
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case69002
 
 
 Unknown
 Unknown
 Unknown
 TYR
 
 prasad_12_ASD_discovery_cases-case82921L
 
 
 Unknown
 Unknown
 Unknown
 NAALAD2
 
 prasad_12_ASD_discovery_cases-case82921L
 
 
 Unknown
 Unknown
 Unknown
 NAALAD2
 
 prasad_12_ASD_discovery_cases-case83553L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-005
 qPCR (CNV not detected)
 
 Bi-parental
 Unknown
 Unknown
 TUBAP2,CHORDC1,DISC1FP1
 
 sanders_11_ASD_discovery_cases-11009.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GRM5
 
 sanders_11_ASD_discovery_cases-11122.p1
 
 
 Paternal
 Simplex (trio)
 NA
 DISC1FP1
 
 sanders_11_ASD_discovery_cases-11334.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GRM5
 
 sanders_11_ASD_discovery_cases-11462.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 DISC1FP1
 
 sanders_11_ASD_discovery_cases-11466.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11526.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 TRIM77
 
 sanders_11_ASD_discovery_cases-11768.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 MTND1P35,TRIM49D2,TRIM49D1
 
 sanders_11_ASD_discovery_cases-11773.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 TRIM49C
 
 sanders_11_ASD_discovery_cases-11969.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 TRIM49C,TRIM64EP
 
 sanders_11_ASD_discovery_cases-12074.p1
 
 
 Paternal
 Simplex (trio)
 NA
 FOLH1B
 
 sanders_11_ASD_discovery_cases-12201.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12257.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GRM5
 
 sanders_11_ASD_discovery_cases-12330.p1
 
 
 Paternal
 Simplex (trio)
 NA
 MIR4490,DISC1FP1
 
 sanders_11_ASD_discovery_cases-12417.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12472.p1
 
 
 Paternal
 Simplex (trio)
 NA
 DISC1FP1
 
 sanders_11_ASD_discovery_cases-12653.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GRM5
 
 sanders_11_ASD_discovery_cases-12864.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12931.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GRM5
 
 sanders_11_ASD_discovery_cases-12976.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GRM5
 
 sanders_11_ASD_discovery_cases-13120.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GRM5
 
 sanders_11_ASD_discovery_cases-13162.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13175.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 UBTFL2,TRIM64DP,TRIM49
 
 sanders_11_ASD_discovery_cases-13216.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 TRIM64
 
 wenger_16_ASD_discovery_cases-case59
 
 
 Unknown
 
 
 GRM5
 
 wenger_16_ASD_discovery_cases-case60
 
 
 Unknown
 
 
 GRM5
 
 wenger_16_ASD_discovery_cases-case61
 
 
 Unknown
 
 
 GRM5
 
 yin_16_ASD_discovery_cases-case416
 
 
 Unknown
 Unknown
 Unknown
 GRM5
 
 yin_16_ASD_discovery_cases-case417
 
 
 Unknown
 Unknown
 Unknown
 TRIM77,UBTFL2,TRIM64DP,TRIM51BP,TRIM64B,MTND1P35,TRIM49,TRIM53BP,TRIM49D2,TRIM49D1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB306257_1007873482
 
 
  Unknown
 
 
  MIR4490,MIR1261,DISC1FP1
 
engchuan_15_ASD_discovery_controls-controlB784823_1007875340
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900099_900099
 
 
  Unknown
 
 
  MTND1P35,TRIM49D2,TRIM49D1
 
kanduri_15_ASD_discovery_controls-control_split1552
 
 
  Unknown
 
 
  FOLH1B,NOX4,TRIM77
 
kanduri_15_ASD_discovery_controls-control_split1552
 
 
  Unknown
 
 
  NAALAD2
 
levy_11_ASD_discovery_controls-11707.s1
 
 
  Maternal
  Simplex
  NA
  NAALAD2
 
sanders_11_ASD_discovery_controls-11009.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GRM5
 
sanders_11_ASD_discovery_controls-11267.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GRM5
 
sanders_11_ASD_discovery_controls-11334.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GRM5
 
sanders_11_ASD_discovery_controls-11462.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DISC1FP1
 
sanders_11_ASD_discovery_controls-11466.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11645.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DISC1FP1
 
sanders_11_ASD_discovery_controls-11666.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GRM5
 
sanders_11_ASD_discovery_controls-11707.s1
 
 
  Maternal
  Simplex (quad)
  NA
  NAALAD2
 
sanders_11_ASD_discovery_controls-11839.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11843.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GRM5
 
sanders_11_ASD_discovery_controls-11918.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GRM5
 
sanders_11_ASD_discovery_controls-12198.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DISC1FP1
 
sanders_11_ASD_discovery_controls-12351.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TRIM49C
 
sanders_11_ASD_discovery_controls-12976.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GRM5
 
sanders_11_ASD_discovery_controls-13120.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GRM5
 

No Animal Model Data Available
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