AutismKB

Detail Information of AutCNV0000161

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
MixedASD 427 238 189 - 427 500 927 Marshall, 2008
Population: -
Platform: Affymetrix 500K array
Method: SNP microarray
Marker:-
Band:Xp22.33-22.31
Evidences:Denovo CNVs;
Region: ChrX: 34419 - 5859730 (hg17: ChrX: 34419-5859730)
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
AutG57502 NLGN4X XL 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
AutG57502 NLGN4X 1 2 3 0 1 0 38
AutG438 ASMT 1 0 3 0 1 0 26
AutG5613 PRKX 0 2 1 0 1 0 21
AutG4267 CD99 0 0 0 2 1 0 4

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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
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