AutismKB 2.0

Detail Information of AutCNV0000014

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
Caucasionautism 165 118 47 99 195 196 391 Sebat, 2007
Population: USA
Platform: Agilent 244K array, 390K ROMA array
Method: aCGH
Marker:-
Band:20p13
Evidences:Denovo CNVs;
Region: Chr20: 2837194-4006399 (hg17: Chr20: 2785194-3954399)
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
AutG5020 OXT 1 0 0 0 0 0 2
AutG64949 MRPS26 0 0 0 1 0 0 1
AutG9762 ProSAPiP1 0 0 0 1 0 0 1
AutG25876 SPEF1 0 0 0 1 0 0 1
AutG8455 ATRN 0 0 0 1 0 0 1
AutG994 CDC25B 0 0 0 1 0 0 1

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