AutismKB 2.0

Detail Information of AutCNV0000369

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:ORAI3
Band:16p11.2
Evidences:CNVs Only Present In Patients; Significant Enriched CNVs;
Region: Chr16: 27692499-34542499 (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
AutG5595 MAPK3 0 0 2 0 2 0 34
AutG10295 BCKDK 0 0 1 0 2 0 22
AutG146395 GSG1L 0 1 0 0 2 0 8
AutG3684 ITGAM 0 0 0 1 2 0 5
AutG112476 PRRT2 0 0 0 1 2 0 5
AutG115509 ZNF689 0 0 0 1 2 0 5
AutG9739 SETD1A 0 0 0 1 2 0 5
AutG9344 TAOK2 0 0 0 1 2 0 5
AutG22928 SEPHS2 0 0 0 1 2 0 5
AutG78994 PRR14 0 0 0 1 2 0 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