3p25.1CNV Type: Deletion-Duplication
Largest CNV size: 399405 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
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
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
38289
0
1
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
68885
3
0
3
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
181148
1
1
2
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
170205
0
2
2
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
22811
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
376000
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
194146
0
3
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
1866
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
700000
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
290275
1
0
1
lionel_13_ASD/ADHD/DD/ID_discovery_cases
Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
89985
64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
N/A
N/A
322276
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
68886
2
0
2
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
383414
0
2
2
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
43800
4
0
4
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
150435
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
399405
4
7
11
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
237319
3
2
5
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
503830
0
1
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
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
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
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)
110374
0
1
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)
43800
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.
172849
2
4
6
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
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
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
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
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)
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
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lionel_13_ASD/ADHD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
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
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
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_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
davis_09_ASD_discovery_cases-AU005303
NA
NA
Syndromic ASD
Diagnosis: autism. Syndromic autism features: alopecia, areata. Family history: father with symptoms of OCD and ADHD
15066252
15104541
38289
Unknown
Duplication
No
engchuan_15_ASD_discovery_cases-case1956_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12747439
12816324
68886
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20147_1562001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
13962637
14009501
46865
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5284_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12691898
12737295
45398
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1325304
Autism
12599763
12780910
181148
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1377302
Autism
12763938
12832493
68556
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU039903
Autism
12611255
12780910
169656
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU039904
Autism
12610706
12780910
170205
Unknown
Duplication
No
gazzellone_14_ASD_discovery_cases-case530-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
15646079
15668890
22812
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-11905.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
12433501
12813501
380001
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001852
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12608508
12802654
194147
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001907
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12608508
12802654
194147
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001969
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12599858
12748947
149090
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13464.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
15456459
15458325
1867
GRCh38
Deletion
Yes
leppa_16_ASD_discovery_cases-AU1749301
N/A
M
ASD
15601493
16260493
659001
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12534.p1
NA
F
ASD
NA
NA
12888492
13178765
290274
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case32
23 yrs
M
ASD
Autism/autistic behavior (Asperger), structural brain anomaly. Family history: apparently normal mother (has deletion)
12535850
12858125
322276
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case1956_302
NA
M
Autism
Low functioning autism, non verbal
MR (untestable by Ravens)
12747439
12816324
68886
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5284_3
NA
M
ASD
NA
NA
12691898
12737295
45398
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case05HI4029A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1523304; NDAR ID NDAR_INVKH745LFQ)
15095971
15479384
383414
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0582A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU045903; NDAR ID NDAR_INVJU319BGV)
14181558
14198118
16561
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case117368L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
12710584
12754383
43800
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case168999
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
13307600
13324733
17134
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case47378
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
12821127
12837200
16074
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case67953L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
13425144
13439323
14180
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1506-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
12614190
12764624
150435
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11108.p1
8.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
13001482
13005502
4021
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11245.p1
10.9
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 107; verbal IQ, 117
12687986
12715447
27462
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
12591794
12776123
184330
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11704.p1
9.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
12436243
12439330
3088
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11905.p1
11.2
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 71; verbal IQ, 34
12430363
12829768
399406
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12001.p1
5.1
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
13001482
13006102
4621
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12212.p1
12.3
M
Autism
NA
Full-scale IQ, 26; non-verbal IQ, 29; verbal IQ, 20
12439330
12442132
2803
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12465.p1
6.2
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 105
13001482
13006102
4621
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12481.p1
5.6
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 47; verbal IQ, 37
12591794
12764643
172850
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12534.p1
7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 84
12887263
13177837
290575
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12723.p1
6.7
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
13907403
13955982
48580
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-controlB237493_1007841091
N/A
N/A
Control
No previous psychiatric history
14250003
14289564
39562
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900348_900348
N/A
N/A
Control
No previous psychiatric history
12705308
12757062
51755
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902543_902543
N/A
N/A
Control
No previous psychiatric history
13174212
13303950
129739
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902566_902566
N/A
N/A
Control
No previous psychiatric history
13158456
13395775
237320
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902782_902782
N/A
N/A
Control
No previous psychiatric history
13898096
14052086
153991
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-40804101794
N/A
N/A
Control
Ethnicity: Hispanic
N/A
12873602
13377431
503830
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C29005A
N/A
M
Control
NIMH Control (NIMH ID 43418)
15411254
15521627
110374
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11167.s1
7.3
M
Control (matched sibling)
NA
NA
14549839
14569254
19416
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11300.s1
8
M
Control (matched sibling)
NA
NA
13001482
13005502
4021
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12481.s1
9
M
Control (matched sibling)
NA
NA
12591794
12764643
172850
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12552.s1
4.2
M
Control (matched sibling)
NA
NA
13001482
13006102
4621
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13015.s1
7.1
F
Control (matched sibling)
NA
NA
12436243
12442132
5890
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13183.s1
10.8
F
Control (matched sibling)
NA
NA
12436243
12442132
5890
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
davis_09_ASD_discovery_cases-AU005303
Unknown
Multiplex
Unknown
0 genes
engchuan_15_ASD_discovery_cases-case1956_302
Unknown
KRT18P17,TMEM40,CAND2
engchuan_15_ASD_discovery_cases-case20147_1562001
Unknown
TPRXL
engchuan_15_ASD_discovery_cases-case5284_3
Unknown
TMEM40
gai_11_ASD_discovery_cases-AU1325304
Inherited
MKRN2, RAF1, TMEM40
gai_11_ASD_discovery_cases-AU1377302
Inherited
TMEM40, CAND2
gai_11_ASD_replication_cases-AU039903
Inherited
RAF1, TMEM40
gai_11_ASD_replication_cases-AU039904
Inherited
RAF1, TMEM40
gazzellone_14_ASD_discovery_cases-case530-3
Unknown
Unknown
Unknown
BTD,ANKRD28
girirajan_13a_ASD_discovery_cases-11905.p1
Unknown
Simplex
Unknown
RNA5SP123,RNU6-377P,CRIP1P1,KRT18P17,TSEN2,MKRN2OS,RAF1,TMEM40,PPARG,CAND2,MKRN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001852
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
CRIP1P1,KRT18P17,RAF1,TMEM40,CAND2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001907
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
CRIP1P1,KRT18P17,RAF1,TMEM40,CAND2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001969
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CRIP1P1,RAF1,TMEM40
krumm_15_ASD_discovery_cases-case13464.p1
1M-Duov3
Paternal
Simplex
Segregated
COLQ
leppa_16_ASD_discovery_cases-AU1749301
Paternal
Multiplex
Not segregated (CNV not present in affected sibling)
MIR3134,RN7SL4P,MIR563,IMPDH1P8,DPH3,BTD,GALNT15,HACL1,ANKRD28
levy_11_ASD_discovery_cases-12534.p1
Maternal
Simplex
Segregated
IQSEC1
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case32
Paternal
CRIP1P1,KRT18P17,RPL32,SNORA7A,TSEN2,MKRN2OS,RAF1,TMEM40,CAND2,MKRN2
pinto_10_ASD_discovery_cases-case1956_302
Illumina550
paternal
NA
NA
KRT18P17,TMEM40,CAND2
pinto_10_ASD_discovery_cases-case5284_3
Agilent1M
paternal
NA
NA
TMEM40
poultney_13_ASD_discovery_cases-case05HI4029A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RPS3AP53,SH3BP5-AS1,RNU6-454P,HMGN2P7,RNU6-1024P,CAPN7,METTL6,EAF1,EAF1-AS1,RBSN,COL6A4P1,SH3BP5,COLQ
poultney_13_ASD_discovery_cases-case98HI0582A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
LSM3
prasad_12_ASD_discovery_cases-case117368L
Unknown
Unknown
Unknown
TMEM40
prasad_12_ASD_discovery_cases-case168999
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case47378
Unknown
Unknown
Unknown
CAND2
prasad_12_ASD_discovery_cases-case67953L
Unknown
Unknown
Unknown
NUP210
sajan_13_ACC/CBLH/PMG_discovery_cases-case1506-0
qPCR
Paternal
Unknown
Unknown
CRIP1P1,RAF1,TMEM40
sanders_11_ASD_discovery_cases-11108.p1
Maternal
Simplex (quad-proband matched)
Segregated
IQSEC1
sanders_11_ASD_discovery_cases-11245.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11680.p1
Paternal
Simplex (trio)
NA
CRIP1P1,RAF1,TMEM40
sanders_11_ASD_discovery_cases-11704.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11905.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNA5SP123,RNU6-377P,CRIP1P1,KRT18P17,TSEN2,MKRN2OS,RAF1,TMEM40,PPARG,CAND2,MKRN2
sanders_11_ASD_discovery_cases-12001.p1
Paternal
Simplex (quad-proband matched)
Not segregated
IQSEC1
sanders_11_ASD_discovery_cases-12212.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12465.p1
Paternal
Simplex (trio)
NA
IQSEC1
sanders_11_ASD_discovery_cases-12481.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CRIP1P1,RAF1,TMEM40
sanders_11_ASD_discovery_cases-12534.p1
Maternal
Simplex (quad-proband matched)
Segregated
IQSEC1
sanders_11_ASD_discovery_cases-12723.p1
Maternal
Simplex (quad-proband matched)
Not segregated
VN1R20P,FGD5P1,TPRXL
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB237493_1007841091
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900348_900348
Unknown
TMEM40
engchuan_15_ASD_discovery_controls-controlHABC_902543_902543
Unknown
IQSEC1
engchuan_15_ASD_discovery_controls-controlHABC_902566_902566
Unknown
IQSEC1,NUP210
engchuan_15_ASD_discovery_controls-controlHABC_902782_902782
Unknown
VN1R20P,FGD5P1,TPRXL
girirajan_13b_ASD_discovery_controls-40804101794
Unknown
LINC02022,IQSEC1,NUP210
poultney_13_ASD_discovery_controls-control04C29005A
Unknown
RNU6-1024P,MIR4270,RN7SL110P,METTL6,EAF1,EAF1-AS1,COLQ
sanders_11_ASD_discovery_controls-11167.s1
Paternal
Simplex (quad)
NA
GRIP2
sanders_11_ASD_discovery_controls-11300.s1
Paternal
Simplex (quad)
NA
IQSEC1
sanders_11_ASD_discovery_controls-12481.s1
Maternal
Simplex (quad)
NA
CRIP1P1,RAF1,TMEM40
sanders_11_ASD_discovery_controls-12552.s1
Paternal
Simplex (quad)
NA
IQSEC1
sanders_11_ASD_discovery_controls-13015.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13183.s1
Both parents
Simplex (quad)
NA
No Animal Model Data Available