AutismKB 2.0

Detail Information of AutCNV0000155

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:20q13.33
Evidences:Denovo CNVs;
Region: Chr20: 61478894-62906556 (hg17: Chr20: 60949339-62377000)
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
AutG1917 EEF1A2 0 1 2 0 1 0 36
AutG79144 PPDPF 0 1 0 0 1 0 6
AutG6725 SRMS 0 1 0 0 1 0 6
AutG5753 PTK6 0 1 0 0 1 0 6
AutG128414 NKAIN4 0 0 0 1 1 0 3
AutG57642 COL20A1 0 0 0 1 1 0 3
AutG10732 TCFL5 0 0 0 1 1 0 3
AutG55738 ARFGAP1 0 0 0 1 1 0 3
AutG54923 LIME1 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