AutismKB 2.0

Detail Information of AutCNV0004301

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
Caucasion--ASD 1127 1127 - - - - - Sanders, 2011
Population: Simons Simplex Collection
Platform: Illumina Infinium 1M SNP array
Method: SNP microarray
Marker:-
Band:12q13.2-q14.1
Evidences:Denovo CNVs;
Region: Chr12: 55932655-60493348 (hg18: Chr12: 54218922-58779615)
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
AutG4035 LRP1 0 0 0 1 0 0 11
AutG3798 KIF5A 0 0 0 1 0 0 11
AutG51561 IL23A 0 0 1 0 0 0 10
AutG6171 RPL41 0 0 0 1 0 0 1
AutG27165 GLS2 0 0 0 1 0 0 1
AutG2583 B4GALNT1 0 0 0 1 0 0 1
AutG6866 TAC3 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