AutismKB 2.0

Detail Information of AutCNV0005111

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
-autism 83 - - - 257 288 545 Kanduri C, 2016
Complication: Y
Population: Finnish
Platform: Illumina Human OmniExpress-12v1.0 beadchip (730K)
Method: -
Marker:-
Band:1q42.2
Evidences:CNVs Only Present In Patients;
Region: Chr1: 231711489-231813134
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
AutG2272 FHIT 0 1 0 0 1 0 6

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