AutismKB

Detail Information of AutCNV0000002

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:2q37.2-q37.3
Evidences:Denovo CNVs;
Region: Chr2: 236414455 - 242701103 (hg17: Chr2: 236414455-242701103)
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
No data!
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
AutG51665 ASB1 0 0 1 0 1 0 9
AutG3069 HDLBP 0 0 1 0 1 0 9
AutG5133 PDCD1 0 0 1 0 1 0 9
AutG116987 AGAP1 0 0 1 0 1 0 9
AutG11132 CAPN10 0 0 1 0 1 0 9
AutG57007 CXCR7 0 0 0 3 1 0 5
AutG55502 HES6 0 0 0 1 1 0 3
AutG4735 SEPT2 0 0 0 1 1 0 3

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  (e.g. CDH8)

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
  • Click to Download Data

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