AutismKB 2.0

Detail Information of AutCNV0000382

1. Sample AND Method Top
Users can click the chromosome coordinates of "Region" label to view information in UCSC Genome Browser.
Ancestry ADI-R ADOS Diagnosis Family Individual Reference
Total Simplex Multiplex Control Affected Control Total
Not Mentionedautism - - - - 105 267 372 Zwaag, 2009
Population: -
Platform: Illumina Humanhap300 Beadchip
Method: SNP microarray
Marker:LARGE
Band:22q12.3
Evidences:CNVs Only Present In Patients; Significant Enriched CNVs;
Region: Chr22: 32170000-37570054 (Deduced by Band)
Gain/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
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
AutG3560 IL2RB 0 0 0 3 1 0 5
AutG10043 TOM1 0 0 0 1 1 0 3
AutG23543 RBFOX2 0 0 0 1 1 0 3
AutG9215 LARGE 0 0 0 1 1 0 3
AutG23551 RASD2 0 0 0 1 1 0 3
AutG5816 PVALB 0 0 0 1 1 0 3

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018