AutismKB 2.0

Detail Information of AutCNV0000680

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 55 - - - - - - Ozgen, 2009
Population: -
Platform: Illumina customized 4x44K array, HumanHap300 SNP array
Method: aCGH, SNP microarray
Marker:-
Band:8p21.2-p23.1
Evidences:Overlapping/Recurrent CNVs;
Region: Chr8: 12241093-26707917 (hg18: Chr8: 12285464-26763834)
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
AutG23362 PSD3 0 3 0 0 1 1 16
AutG4747 NEFL 1 0 0 1 1 1 7
AutG203190 LGI3 0 0 0 2 1 1 6
AutG2675 GFRA2 0 0 0 2 1 1 6
AutG8795 TNFRSF10B 0 0 0 2 1 1 6
AutG4741 NEFM 0 0 0 2 1 1 6
AutG137868 SGCZ 0 0 0 1 1 1 5
AutG10174 SORBS3 0 0 0 1 1 1 5
AutG51312 SLC25A37 0 0 0 1 1 1 5
AutG6542 SLC7A2 0 0 0 1 1 1 5
AutG9796 PHYHIP 0 0 0 1 1 1 5
AutG1808 DPYSL2 0 0 0 1 1 1 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