AutismKB 2.0

Detail Information of AutCNV0000140

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:5p15.33-15.2
Evidences:Denovo CNVs;
Region: Chr5: 28949-13829933 (hg17: Chr5: 81949-13882933)
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
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
AutG9037 SEMA5A 0 1 1 1 0 0 33
AutG6531 SLC6A3 0 0 1 0 0 0 30
AutG57491 AHRR 0 0 0 1 0 0 21
AutG1501 CTNND2 0 1 0 0 1 0 14
AutG10016 PDCD6 0 0 0 1 0 0 12
AutG50834 TAS2R1 0 1 0 0 0 0 4
AutG4552 MTRR 1 0 0 0 0 0 2
AutG9319 TRIP13 0 0 0 1 0 0 1
AutG6715 SRD5A1 0 0 0 1 0 0 1

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