AutismKB 2.0

Detail Information of AutCNV0000181

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:15q11.2-q13.3
Evidences:Other; Denovo CNVs;
Region: Chr15: 20116186-32511508 (hg17: Chr15: 18376200-30298800)
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
AutG7337 UBE3A AD Level 4: The disorder is 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
AutG2562 GABRB3 2 0 3 1 3 0 41
AutG321 APBA2 0 0 1 0 2 1 26
AutG7337 UBE3A 1 0 1 1 2 0 25
AutG2558 GABRA5 1 0 1 2 3 0 20
AutG23191 CYFIP1 1 0 1 1 3 0 19
AutG22909 FAN1 0 0 1 0 2 1 16
AutG57194 ATP10A 2 0 0 0 2 0 9
AutG114791 TUBGCP5 0 0 0 2 3 0 8
AutG2567 GABRG3 1 0 0 0 3 0 8
AutG81614 NIPA2 0 0 0 1 3 0 7
AutG6638 SNRPN 1 0 0 0 2 0 6
AutG390535 GOLGA8E 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