AutismKB

Detail Information of AutCNV0000012

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:16p11.2
Evidences:Denovo CNVs;
Region: Chr16: 29578715 - 30081289 (hg17: Chr16: 29578715-30081289)
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
AutG5595 MAPK3 0 0 3 0 3 0 27
AutG26470 SEZ6L2 0 0 3 0 3 0 27
AutG9344 TAOK2 0 0 1 1 3 0 14
AutG8448 DOC2A 0 0 1 0 3 0 13
AutG8479 HIRIP3 0 0 1 0 3 0 13
AutG112476 PRRT2 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
  • Click to Download Data

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