AutismKB 2.0

Detail Information of AutCNV0000029

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
CaucasionASD 1491 - - - - - 0 Szatmari, 2007
Population: Europe, North America
Platform: Affymetrix 10K v2 SNP array
Method: SNP microarray
Marker:-
Band:15q24.2-26.3
Evidences:CNVs Overlapping With ACRD;
Region: Chr15: 76503345-102352477 (hg17: Chr15: 74290400-100170000)
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
AutG1106 CHD2 0 0 1 0 1 1 52
AutG9899 SV2B 0 0 0 2 1 1 16
AutG220 ALDH1A3 0 0 0 2 1 0 14
AutG79705 LRRK1 0 0 0 1 1 0 13
AutG9915 ARNT2 1 0 0 0 1 0 12
AutG8128 ST8SIA2 0 1 0 0 1 1 8
AutG4916 NTRK3 2 0 0 0 1 0 6
AutG4240 MFGE8 0 0 0 2 1 1 6
AutG64782 AEN 0 0 0 1 1 1 5
AutG2242 FES 0 0 0 1 1 1 5
AutG91947 ARRDC4 0 0 0 1 1 1 5
AutG400451 FAM174B 0 0 0 1 1 1 5
AutG7026 NR2F2 0 0 0 1 1 1 5
AutG23205 ACSBG1 0 0 0 1 1 0 3
AutG597 BCL2A1 0 0 0 1 1 0 3
AutG6218 RPS17 0 0 0 1 1 0 3
AutG5151 PDE8A 0 0 0 1 1 0 3
AutG1512 CTSH 0 0 0 1 1 0 3
AutG123720 WHAMM 0 0 0 1 1 0 3
AutG145748 LYSMD4 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