AutismKB 2.0

Detail Information of AutCNV0000018

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 751 - - - 2252 23502 25754 Weiss, 2008
Population: USA, Ireland
Platform: Affymetrix 5.0 array, Affymetrix 500K array, Agilent array, Illumina Human-Hap300 BeadChip
Method: aCGH, SNP microarray
Marker:-
Band:16p11.2
Evidences:Overlapping/Recurrent CNVs; Denovo CNVs;
Region: Chr16: 27692499-34542499 (Deduced by Band)
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
AutG5595 MAPK3 0 0 2 0 2 0 34
AutG10295 BCKDK 0 0 1 0 2 0 22
AutG146395 GSG1L 0 1 0 0 2 0 8
AutG112476 PRRT2 0 0 0 1 2 0 5
AutG115509 ZNF689 0 0 0 1 2 0 5
AutG9739 SETD1A 0 0 0 1 2 0 5
AutG3684 ITGAM 0 0 0 1 2 0 5
AutG9344 TAOK2 0 0 0 1 2 0 5
AutG22928 SEPHS2 0 0 0 1 2 0 5
AutG78994 PRR14 0 0 0 1 2 0 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