AutismKB

Detail Information of AutCNV0003831

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Caucasion--ASD 915 915 - - - - - Levy, 2011
Population: Simons Simplex Collection
Platform: Agilent 244K oligonucleotide CGH microarray, 33K and 38K BAC arrays
Method: aCGH
Marker:-
Band:12p12.3-p11.22
Evidences:Denovo CNVs;
Region: Chr12: 16907527 - 29882113
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
AutG3845 KRAS 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
AutG53919 SLCO1C1 0 0 2 0 1 0 16
AutG9847 KIAA0528 0 0 0 1 1 1 4
AutG144363 LYRM5 0 0 0 1 1 1 4
AutG586 BCAT1 0 0 0 1 1 1 4
AutG11228 RASSF8 0 0 0 1 1 1 4
AutG55711 FAR2 0 0 0 1 1 0 3

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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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