AutismKB

Detail Information of AutCNV0000015

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Caucasionautism 165 118 47 99 195 196 391 Sebat, 2007
Population: USA
Platform: Agilent 244K array, 390K ROMA array
Method: aCGH
Marker:-
Band:22q13.31-13.33
Evidences:Denovo CNVs;
Region: Chr22: 45144027 - 49465883 (hg17: Chr22: 45144027-49465883)
Gain/Loss:loss
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
AutG85358 SHANK3 AD Level 3: The gene has been reported in many families with ASD/autistic features, but the disorder hasn't been 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
AutG85358 SHANK3 0 0 3 0 2 0 25
AutG6305 SBF1 0 0 2 0 2 0 18
AutG23774 BRD1 0 0 1 0 2 0 11
AutG9889 ZBED4 0 0 1 0 2 0 11
AutG56666 PANX2 0 0 0 1 2 0 5
AutG1120 CHKB 0 0 0 1 2 0 5

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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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