AutismKB 2.0

Detail Information of AutCNV0000686

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 MentionedASD - - - - 396 5023 5419 Berkel, 2010
Complication: Yes
Population: Canada
Platform: Affymetrix SNP Array 6.0/Illumina Infinium 1M single SNP array
Method: SNP microarray
Marker:null
Band:15q21.3
Evidences:CNVs Only Present In Patients; CNVs Not Present In Control;
Region: Chr15: 53312708-58012708
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
AutG9236 CCPG1 0 0 0 2 1 1 6
AutG51187 RSL24D1 0 0 0 1 1 1 5
AutG5873 RAB27A 0 0 0 1 1 1 5

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