AutismKB 2.0

Detail Information of AutCNV0000158

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
MixedASD 427 238 189 - 427 500 927 Marshall, 2008
Population: -
Platform: Affymetrix 500K array
Method: SNP microarray
Marker:-
Band:22q11.21
Evidences:Denovo CNVs;
Region: Chr22: 18890946-23222208 (hg17: Chr22: 17265500-21546762)
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
AutG6899 TBX1 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
AutG54584 GNB1L 0 1 1 0 2 1 20
AutG5594 MAPK1 0 0 1 0 1 1 14
AutG1312 COMT 2 0 0 0 2 1 10
AutG7122 CLDN5 0 0 0 2 2 1 8
AutG9993 DGCR2 0 0 0 1 2 1 7
AutG3053 SERPIND1 0 0 0 1 2 1 7
AutG23753 SDF2L1 0 0 0 1 1 1 5
AutG25787 DGCR9 0 0 0 1 1 1 5
AutG7332 UBE2L3 0 0 0 1 1 1 5
AutG9647 PPM1F 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