AutismKB

Detail Information of AutCNV0000400

1. Sample AND Method Top
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
CaucasionASD - - - - 2 1577 - Crepel, 2009
Complication: ADHD, mild mental retardation
Population: Belgium
Platform: in-house 1 Mb micro-array containing clones from the 1 Mb Bacterial Artificial Chromosome (BAC/PAC) clone set generously donated by the Sanger Institute
Method: aCGH
Marker:-
Band:1q42.2
Evidences:CNVs Not Present In Control;
Region: Chr1: 229798909 - 231867088 (hg17: Chr1: 229798909-231867088)
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
No data!
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
AutG6894 TARBP1 0 0 0 2 0 0 2
AutG9804 TOMM20 0 0 0 2 0 0 2
AutG359948 IRF2BP2 0 0 0 1 0 0 1

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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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