4q26-q27CNV Type: Duplication
Largest CNV size: 735983 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
A maternally-inherited duplication within this region was identified in a male ASD case from a simplex family that segregated with disease (i.e this duplication was absent in an unaffected sibling) (Pinto et al., 2014).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
6952173
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
714953
0
1
1
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
735983
0
1
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
6952799
1
0
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
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
None (CNV validation not available, CNV not detected by validation method, or CNV not detected by WGS but was detected by validation methodology)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
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
brandler_18_ASD_replication_cases-caseAU2075302
N/A
M
ASD
Case from MSSNG cohort
114969247
121921420
6952174
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6413_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
119306264
120021217
714954
GRCh38
Duplication
No
pinto_14_ASD_discovery_cases2-case6413_4
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
119306264
120042246
735983
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-caseAU2075302
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
114969245
121922045
6952801
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-caseAU2075302
No validation step reported
Maternal
MRPS33P3,RPF2P2,PGAM4P2,KRT18P21,EIF3KP3,TTC39CP1,MTRNR2L13,MIR1973,TRMT112P1,CUL4AP1,ACTN4P1,RNU6-119P,TRAM1L1,LINC02263,RPSAP35,NT5C3AP1,SNHG8,SNORA24,NDUFS5P5,RNU6-1054P,SEPT14P4,C4orf3,FABP2,RNU4-33P,RNU6-1217P,LTV1P1,SAR1AP3,RNU6-550P,SETP12,RNU6-948P,TUBB4BP5,TMEM155,CCNA2,LINC02262,LINC02264,FKBP4P1,PRSS12,CICP16,METTL14,KLHL2P1,GTF2IP12,LINC02502,NDNF,RN7SKP137,TNIP3,ANXA5,EXOSC9,BBS7,NDST4,NDST3,SEC24D,SYNPO2,MYOZ2,USP53,LINC01365,MAD2L1,PRDM5,QRFPR,PP12613,TRPC3,CEP170P1,PDE5A,LINC01378
engchuan_15_ASD_discovery_cases-case6413_4
Unknown
FABP2,RNU4-33P,RNU6-1217P,KLHL2P1,GTF2IP12,LINC02502,LINC01365,PDE5A
pinto_14_ASD_discovery_cases2-case6413_4
qPCR
Maternal
Simplex
Segregated (absent in unaffected sibling)
FABP2,RNU4-33P,RNU6-1217P,KLHL2P1,GTF2IP12,LINC02502,LINC01365,PDE5A
yuen_17_ASD_discovery_cases-caseAU2075302
Not available
Unknown
Multiplex
Unknown
MRPS33P3,RPF2P2,PGAM4P2,KRT18P21,EIF3KP3,TTC39CP1,MTRNR2L13,MIR1973,TRMT112P1,CUL4AP1,ACTN4P1,RNU6-119P,TRAM1L1,LINC02263,RPSAP35,NT5C3AP1,SNHG8,SNORA24,NDUFS5P5,RNU6-1054P,SEPT14P4,C4orf3,FABP2,RNU4-33P,RNU6-1217P,LTV1P1,SAR1AP3,RNU6-550P,SETP12,RNU6-948P,TUBB4BP5,TMEM155,CCNA2,LINC02262,LINC02264,FKBP4P1,PRSS12,CICP16,METTL14,KLHL2P1,GTF2IP12,LINC02502,NDNF,RN7SKP137,TNIP3,ANXA5,EXOSC9,BBS7,NDST4,NDST3,SEC24D,SYNPO2,MYOZ2,USP53,LINC01365,MAD2L1,PRDM5,QRFPR,PP12613,TRPC3,CEP170P1,PDE5A,LINC01378
Controls
No Control Data Available
No Animal Model Data Available