AutismKB 2.0

Detail Information of AutCNV0000093

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:11q23.2-25
Evidences:Overlapping/Recurrent CNVs;
Region: Chr11: 113996790-134897790 (hg17: Chr11: 113502000-134403000)
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
AutG23705 CADM1 0 0 1 1 0 0 11
AutG220323 OAF 0 0 0 1 0 0 11
AutG7704 ZBTB16 0 1 0 1 0 0 5
AutG3587 IL10RA 0 1 0 0 0 0 4
AutG6327 SCN2B 0 0 0 2 0 0 2
AutG84959 UBASH3B 0 0 0 2 0 0 2
AutG54538 ROBO4 1 0 0 0 0 0 2
AutG6330 SCN4B 0 0 0 2 0 0 2
AutG64221 ROBO3 1 0 0 0 0 0 2
AutG64137 ABCG4 0 0 0 1 0 0 1
AutG4900 NRGN 0 0 0 1 0 0 1
AutG335 APOA1 0 0 0 1 0 0 1
AutG84866 TMEM25 0 0 0 1 0 0 1
AutG55800 SCN3B 0 0 0 1 0 0 1
AutG219844 HYLS1 0 0 0 1 0 0 1
AutG337 APOA4 0 0 0 1 0 0 1
AutG486 FXYD2 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