5p15.31CNV Type: Deletion-Duplication
Largest CNV size: 84066 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.
Deletion
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
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
34664
2
0
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
588000
0
1
1
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
6436
2
0
2
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
101387
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
101387
1
0
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
1700000
0
1
1
mosca-boidron_15_ASD/ID_discovery_cases
Four-year-old boy with ASD carrying a de novo translocation leading to partial deletion of the SEMA5A gene
1
Case met ICD-10 criteria for PDD-NOS; associated diagnosis of intellectual disability (ID)
4 yrs.
Male
861000
1
0
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
84066
33
2
35
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
112141
0
1
1
zhou_19_ASD_discovery_cases
ASD probands from families recruited from training centers in Beijing and Tsingdao, China
539
Cases were diagnosed for ASD by ADI-R and ADOS
4.92 1.20 years
87.38% Male
62000
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
219891
0
4
4
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
6436
1
0
1
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
201309
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
101387
1
0
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
15466
25
0
25
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
112141
0
0
0
zhou_19_ASD_discovery_controls
Samples from blood donors at donation stations in Beijing, China (note: CNVs identified in controls not reported in this study)
512
Controls were screened for ASD by AQ measurement (score < 32) and self-reported to be negative for personal or family history of neurological disorders or psychiatric illness related to ASD and adverse pregnancy history
29.77 9.12 years
76.17% Male
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
None
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
mosca-boidron_15_ASD/ID_discovery_cases
France
Solid phase hybridization
Illumina Human Omni 2.5M
FISH, 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
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zhou_19_ASD_discovery_cases
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
zhou_19_ASD_discovery_controls
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
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-case20154_1642001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
7445176
7479840
34665
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3241_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
7445176
7478801
33626
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-AU1203303
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
6576887
7166887
590001
GRCh38
Duplication
No
kanduri_15_ASD_discovery_cases-case3021
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
7184639
7191074
6436
Unknown
Homozygous deletion
No
krumm_13_ASD_discovery_cases-case13396.p1
N/A
M
ASD
ASD proband from SSC quad family 13396. SRS score of 83.
Full-scale IQ (FSIQ) score of 103.
9136503
9237890
101388
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case13396.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
9136503
9237890
101388
GRCh38
Deletion
Yes
leppa_16_ASD_discovery_cases-AU4070301
N/A
M
ASD
7199887
8934888
1735002
GRCh38
Duplication
No
mosca-boidron_15_ASD/ID_discovery_cases-case1
4 yrs.
M
ASD and ID
Case met ICD-10 criteria for PDD-NOS (severely impaired verbal and non-verbal communications and impaired social interactions); diagnosis of childhood autism ruled out according to ADI-R due to absence of restricted and stereotyped patterns of interest. Birth/neonatal history: uneventful pregnancy; born at 36 weeks 5 days of gestation by C-section due to breech presentation; birth weight of 2400 g, length of 43 cm, and OFC of 33 cm. Developmental milestones: did not react to noise at 18 months of age (despite normal hearing test); presented with speech delay at 2 years. Language and communication evaluation: only able to pronounce sounds at age of 4 years; impaired reciprocal interactions and communication skills. Brain imaging: normal brain MRI. Additional medical history: asthma. Dysmorphic features: no discernible dysmorphic features. Growth parameters: normal parameters at age of 4 years (weight of 17 kg, height of 100 cm, and OFC of 51.5 cm). Family history: third of three siblings; two brothers had speech delay that was rapidly corrected and did not require any further investigation. Karyotype: 46,XY,t(5;22)(p15.3;q11.2).
Results of Psychoeducational Profile-Revised (PEP-R) at age of 5 years indicated a developmental score equivalent to an age of 17 months, confirming associated diagnosis of intellectual disability (ID)
8205499
9066690
861192
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11002.p1
7.7
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 111; verbal IQ, 80
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11004.p1
15.8
M
ASD
NA
Full-scale IQ, 59; non-verbal IQ, 74; verbal IQ, 31
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11041.p1
13
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11045.p1
8.3
F
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 84; verbal IQ, 80
7993503
8077569
84067
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11057.p1
8.7
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11094.p1
6.5
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 105; verbal IQ, 86
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11113.p1
15
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 100; verbal IQ 87
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11115.p1
13.8
F
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 46; verbal IQ, 19
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11264.p1
10.7
F
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 88; verbal IQ 80
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11303.p1
5.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 110; verbal IQ, 102
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11348.p1
7.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 64
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11516.p1
12.8
M
Aspergers
NA
Full-scale IQ, 111; non-verbal IQ, 112; verbal IQ, 107
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11518.p1
11.2
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 13
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11540.p1
8.2
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11545.p1
7.9
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 114; verbal IQ, 83
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11599.p1
6.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 99
7445176
7510823
65648
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11612.p1
10.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 90; verbal IQ, 79
7177627
7193093
15467
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
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11878.p1
9.5
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 94
6100413
6101053
641
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11894.p1
5.4
M
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 125
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12014.p1
6.3
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 107; verbal IQ, 133
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12029.p1
8.6
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 108; verbal IQ, 94
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12038.p1
4.7
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 83; verbal IQ, 60
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12097.p1
4.8
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 115; verbal IQ, 145
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12229.p1
10.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 89; verbal IQ, 80
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12238.p1
8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ, 84
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12240.p1
8.9
M
ASD
NA
Full-scale IQ, 91; non-verbal IQ, 86; verbal IQ, 104
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12299.p1
6.3
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 125
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12316.p1
12.5
M
ASD
NA
Full-scale IQ, 112; non-verbal IQ, 109; verbal IQ, 114
6100413
6101053
641
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12349.p1
4.9
M
ASD
NA
Full-scale IQ, 81; non-verbal IQ, 81; verbal IQ, 90
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12438.p1
4.1
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 93; verbal IQ, 74
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12438.p1
4.1
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 93; verbal IQ, 74
6100413
6101053
641
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12457.p1
9.6
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 103
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12581.p1
12.4
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12605.p1
16.3
M
Autism
NA
Full-scale IQ, 120; non-verbal IQ, 108; verbal IQ, 136
7177627
7193093
15467
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case216
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
8383189
8495329
112141
GRCh38
Duplication
No
zhou_19_ASD_discovery_cases-caseAU053003
N/A
N/A
ASD
Diagnosis of ASD by ADI-R and ADOS.
9318322
9380073
61752
GRCh38
Duplication
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-control110036018182_
N/A
N/A
Control
No previous psychiatric history
7402448
7478801
76354
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB483586_1007842342
N/A
N/A
Control
No previous psychiatric history
7410953
7469283
58331
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900547_900547
N/A
N/A
Control
No previous psychiatric history
6973202
7193093
219892
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902875_902875
N/A
N/A
Control
No previous psychiatric history
7410953
7469283
58331
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split197
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
7184639
7191074
6436
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control13396.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13396. SRS score of 43.
9136503
9337812
201310
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control13396.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
9136503
9237890
101388
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11004.s1
10.3
M
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11041.s1
15.7
M
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11057.s1
5.9
M
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11094.s1
12.2
M
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11106.s1
7.2
M
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11115.s1
15.8
F
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11144.s1
14
F
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11350.s1
6.1
M
Control (matched sibling)
NA
NA
7918920
7923570
4651
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11484.s1
14.4
M
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11540.s1
14.7
F
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11545.s1
11.2
M
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11773.s1
14.3
M
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11775.s1
12.7
F
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11863.s1
8
F
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11894.s1
4.2
M
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12029.s1
12.6
M
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12239.s1
7.4
M
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12271.s1
9.1
M
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12296.s1
13.9
M
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12299.s1
9.7
F
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12435.s1
9
F
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12438.s1
6.4
M
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12575.s1
18.6
M
Control (matched sibling)
NA
NA
6100413
6101053
641
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13016.s1
9.5
F
Control (matched sibling)
NA
NA
7177627
7193093
15467
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13135.s1
17.1
M
Control (matched sibling)
NA
NA
7177627
7193093
15467
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-case20154_1642001
Unknown
ADCY2
engchuan_15_ASD_discovery_cases-case3241_4
Unknown
ADCY2
girirajan_13a_ASD_discovery_cases-AU1203303
Unknown
Multiplex
Unknown
MIR4278,RN7SKP79,RNA5SP176,LINC01018,NSUN2,SRD5A1,LINC02102,TENT4A,LINC02196
kanduri_15_ASD_discovery_cases-case3021
De novo
Unknown
Unknown
Intergenic CNV: nearest genes, MIR4278(dist=356605),MIR4454(dist=78342)
krumm_13_ASD_discovery_cases-case13396.p1
Maternal
Simplex
Not segregated
SEMA5A
krumm_15_ASD_discovery_cases-case13396.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
SEMA5A
leppa_16_ASD_discovery_cases-AU4070301
Maternal
Simplex
Unknown
LINC02123,LINC02142,RNU1-76P,MIR4458,MTND6P2,MTCYBP37,C5orf49,MIR4458HG,LINC02199,LINC02196,ADCY2,MTRR,FASTKD3,LINC02226
mosca-boidron_15_ASD/ID_discovery_cases-case1
FISH, qPCR
De novo
Simplex
Likely segregated
MIR4458,MTND6P2,MTCYBP37,MIR4636,MIR4458HG,LINC02199,SEMA5A,LINC02226
sanders_11_ASD_discovery_cases-11002.p1
Paternal
Simplex (quad-proband matched)
Segregated
LINC02196
sanders_11_ASD_discovery_cases-11004.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-11041.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-11045.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11057.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-11094.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-11113.p1
Maternal
Simplex (trio)
NA
LINC02196
sanders_11_ASD_discovery_cases-11115.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-11264.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
LINC02196
sanders_11_ASD_discovery_cases-11303.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-11348.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-11516.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
LINC02196
sanders_11_ASD_discovery_cases-11518.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-11540.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-11545.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-11599.p1
Paternal
Simplex (quad-proband matched)
Segregated
ADCY2
sanders_11_ASD_discovery_cases-11612.p1
Maternal
Simplex (trio)
NA
LINC02196
sanders_11_ASD_discovery_cases-11773.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-11878.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11894.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-12014.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-12029.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-12038.p1
Maternal
Simplex (trio)
NA
LINC02196
sanders_11_ASD_discovery_cases-12097.p1
Paternal
Simplex (trio)
NA
LINC02196
sanders_11_ASD_discovery_cases-12229.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-12238.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-12240.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-12299.p1
Both parents
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-12316.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12349.p1
Maternal
Simplex (trio)
NA
LINC02196
sanders_11_ASD_discovery_cases-12438.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-12438.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12457.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-12581.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02196
sanders_11_ASD_discovery_cases-12605.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02196
yin_16_ASD_discovery_cases-case216
Unknown
Unknown
Unknown
MIR4458,MIR4458HG,LINC02226
zhou_19_ASD_discovery_cases-caseAU053003
qPCR
De novo
SEMA5A
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036018182_
Unknown
ADCY2
engchuan_15_ASD_discovery_controls-controlB483586_1007842342
Unknown
ADCY2
engchuan_15_ASD_discovery_controls-controlHABC_900547_900547
Unknown
RNA5SP176,LINC02196
engchuan_15_ASD_discovery_controls-controlHABC_902875_902875
Unknown
ADCY2
kanduri_15_ASD_discovery_controls-control_split197
Unknown
Intergenic CNV: nearest genes, MIR4278(dist=356605),MIR4454(dist=78342)
krumm_13_ASD_discovery_controls-control13396.s1
Maternal
Simplex
SEMA5A
krumm_15_ASD_discovery_controls-control13396.s1
1M-Duov3
Maternal
SEMA5A
sanders_11_ASD_discovery_controls-11004.s1
Paternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-11041.s1
Paternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-11057.s1
Maternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-11094.s1
Paternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-11106.s1
Maternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-11115.s1
Paternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-11144.s1
Paternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-11350.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11484.s1
Paternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-11540.s1
Paternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-11545.s1
Paternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-11773.s1
Paternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-11775.s1
Maternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-11863.s1
Maternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-11894.s1
Paternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-12029.s1
Maternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-12239.s1
Paternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-12271.s1
Paternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-12296.s1
Maternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-12299.s1
Both parents
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-12435.s1
Maternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-12438.s1
Paternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-12575.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13016.s1
Paternal
Simplex (quad)
NA
LINC02196
sanders_11_ASD_discovery_controls-13135.s1
Maternal
Simplex (quad)
NA
LINC02196
No Animal Model Data Available