AutismKB 2.0

Detail Information of AutCNV0000684

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
CaucasionASD 3 - - - - - - Willemsen, 2010
Population: -
Platform: Affymetrix 500K SNP array
Method: SNP microarray
Marker:-
Band:16q24.2-24.3
Evidences:Overlapping/Recurrent CNVs; Denovo CNVs;
Region: Chr16: 87502499-89602499 (hg18: Chr16: 86060000-88130000)
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
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
AutG29123 ANKRD11 0 0 1 0 1 0 48
AutG57338 JPH3 0 1 0 0 0 0 14
AutG1535 CYBA 0 0 0 1 1 0 3
AutG8140 SLC7A5 1 0 0 0 0 0 2

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