AutismKB

Detail Information of AutCNV0000031

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
CaucasionASD 1491 - - - - - 6709 Szatmari, 2007
Population: Europe, North America
Platform: Affymetrix 10K v2 SNP array
Method: SNP microarray
Marker:-
Band:22q11.21
Evidences:CNVs Overlapping With ACRD;
Region: Chr22: 17506900 - 20306800 (hg17: Chr22: 17506900-20306800)
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
AutG6899 TBX1 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
AutG1312 COMT 2 0 1 0 2 1 18
AutG54584 GNB1L 0 0 1 0 2 1 12
AutG54487 DGCR8 0 0 1 0 2 1 12
AutG7122 CLDN5 0 0 0 2 2 1 7
AutG3053 SERPIND1 0 0 0 1 2 1 6
AutG7332 UBE2L3 0 0 0 1 2 1 6

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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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