AutismKB

Detail Information of AutCNV0000134

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Not MentionedASD - - - - 29 - - Jacquemont, 2006
Population: France
Platform: -
Method: aCGH
Marker:-
Band:21q22
Evidences:Denovo CNVs;
Region: Chr21: 38076808 - 45976808
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
AutG3689 ITGB2 0 0 1 3 1 0 12
AutG7113 TMPRSS2 0 0 1 0 1 0 9
AutG54014 BRWD1 0 0 1 0 1 0 9
AutG10785 WDR4 0 0 1 0 1 0 9
AutG6573 SLC19A1 1 0 0 0 1 0 5
AutG8624 PSMG1 0 0 0 2 1 0 4
AutG754 PTTG1IP 0 0 0 2 1 0 4
AutG2114 ETS2 0 0 0 2 1 0 4
AutG8209 C21orf33 0 0 0 2 1 0 4
AutG5121 PCP4 0 0 0 1 1 0 3
AutG875 CBS 0 0 0 1 1 0 3
AutG755 C21orf2 0 0 0 1 1 0 3
AutG104 ADARB1 0 0 0 1 1 0 3
AutG25825 BACE2 0 0 0 1 1 0 3
AutG7226 TRPM2 0 0 0 1 1 0 3

Quick Search:


  (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

Registered with NIF