AutismKB

Detail Information of AutCNV0000133

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:15q11-13
Evidences:Denovo CNVs;
Region: Chr15: 22736034 - 29536034
Gain/Loss:gain
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
AutG7337 UBE3A AD Level 4: The disorder is 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
AutG2562 GABRB3 2 0 3 1 3 0 34
AutG2558 GABRA5 1 0 2 2 3 0 25
AutG7337 UBE3A 1 0 1 1 3 0 17
AutG2567 GABRG3 1 0 1 0 3 0 16
AutG321 APBA2 0 0 1 0 3 1 14
AutG57194 ATP10A 2 0 0 0 3 0 12
AutG6638 SNRPN 1 0 0 0 3 0 9

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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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