AutismKB 2.0

Detail Information of AutCNV0000732

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 - - - - 223 - 223 Bremer, 2011
Population: -
Platform: Agilent 244K oligonucleotide CGH microarray, 33K and 38K BAC arrays
Method: aCGH
Marker:-
Band:17p13.2
Evidences:CNVs Only Present In Patients;
Region: Chr17: 4553251-7559275 (hg18: Chr17: 4500000-7500000)
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
AutG1742 DLG4 0 0 1 0 0 1 12
AutG10749 KIF1C 0 0 0 2 0 1 4
AutG6462 SHBG 1 0 0 0 0 1 4
AutG58191 CXCL16 0 0 0 1 0 1 3
AutG388325 C17orf87 0 0 0 1 0 1 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