AutismKB

Detail Information of AutCNV0000550

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
CaucasionASD - - - - 119 54 - Gregory, 2009
Population: USA
Platform: Genetix Qarray2
Method: aCGH
Marker:-
Band:9q34.13-34.3
Evidences:Overlapping/Recurrent CNVs;
Region: Chr9: 133548591 - 140273252
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
AutG7248 TSC1 AD Level 4: The disorder is a generally acknowledged ASD related disorder.
AutG79813 EHMT1 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
AutG1621 DBH 0 0 2 0 1 0 16
AutG92715 WDR85 0 0 1 0 1 1 10
AutG5047 PAEP 0 0 1 0 1 1 10
AutG414332 LCN10 0 0 1 0 1 1 10
AutG20 ABCA2 0 0 1 0 1 1 10
AutG142680 SLC34A3 0 0 1 0 1 1 10
AutG375775 PNPLA7 0 0 1 0 1 1 10
AutG79813 EHMT1 0 0 1 0 1 1 10
AutG7248 TSC1 0 0 1 0 1 0 9
AutG9858 KIAA0649 0 0 0 2 1 1 5
AutG9022 CLIC3 0 0 0 2 1 1 5
AutG10811 NOXA1 0 0 0 2 1 1 5
AutG57582 KCNT1 0 0 0 1 1 1 4
AutG9919 SEC16A 0 0 0 1 1 1 4
AutG389812 LCN15 0 0 0 1 1 1 4
AutG2902 GRIN1 0 0 0 1 1 1 4
AutG6621 SNAPC4 0 0 0 1 1 1 4
AutG55684 C9orf86 0 0 0 1 1 1 4
AutG5900 RALGDS 0 0 0 1 1 0 3
AutG8019 BRD3 0 0 0 1 1 0 3
AutG6256 RXRA 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
  • Click to Download Data

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