AutismKB 2.0

Detail Information of AutCNV0000710

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
Asian--autism - - - - 1 - 1 Chen, 2011
Complication: MR, epilepsy, developmental delay,atopic dermatiti
Population: -
Platform: -
Method: FISH, aCGH
Marker:-
Band:22q13.2-qter
Evidences:CNVs Only Present In Patients;
Region: Chr22: -
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
AutG85358 SHANK3 AD Level 3: The gene has been reported in many families with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
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
AutG85358 SHANK3 2 1 3 0 2 0 62
AutG1120 CHKB 0 0 0 1 2 0 5
AutG56666 PANX2 0 0 0 1 2 0 5
AutG706 TSPO 0 0 0 2 1 0 4
AutG638 BIK 0 0 0 1 1 0 3
AutG5465 PPARA 0 0 0 1 1 0 3

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