AutismKB

Detail Information of AutCNV0000016

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
CaucasionASD 751 - - - 2252 23502 25754 Weiss, 2008
Population: USA, Ireland
Platform: Affymetrix 5.0 array, Affymetrix 500K array, Agilent array, Illumina Human-Hap300 BeadChip
Method: aCGH, SNP microarray
Marker:-
Band:15q11-13
Evidences:Overlapping/Recurrent CNVs; Denovo CNVs;
Region: Chr15: 17000000 - 31400000 (Deduced by Band)
Gain/Loss:gain
2. Related Syndromic Genes Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
Gene ID Gene Symbol Inheritance Evidence Level
AutG7337 UBE3A AD Level 4: The disorder is a generally acknowledged ASD related disorder.
3. Related Non-syndromic Genes Top
Gene ID Gene Symbol Evidence Score Total Score
Low-Scale Association GWAS Low-Scale Single Gene Expression CNV Linkage
AutG2562 GABRB3 2 0 3 1 3 0 34
AutG2558 GABRA5 1 0 2 2 3 0 25
AutG114791 TUBGCP5 0 0 2 2 3 0 22
AutG23191 CYFIP1 0 0 2 1 3 0 21
AutG123606 NIPA1 0 0 2 0 3 0 20
AutG7337 UBE3A 1 0 1 1 3 0 17
AutG2567 GABRG3 1 0 1 0 3 0 16
AutG81614 NIPA2 0 0 1 1 3 0 14
AutG1139 CHRNA7 0 0 1 0 3 1 14
AutG321 APBA2 0 0 1 0 3 1 14
AutG57194 ATP10A 2 0 0 0 3 0 12
AutG6638 SNRPN 1 0 0 0 3 0 9
AutG390535 GOLGA8E 0 0 0 1 3 0 7

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  (e.g. NLGN4X)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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