AutismKB 2.0

Copy Number Variation Related Gene List


We collected all the Copy Number Variants(CNVs) from related studies in the dataset. If the study gave the exact start and end point, we collected all the genes in the given region; if not, we deduced genomic region from the band, and collected all the genes in the band.
According to the number of related studies, genes in the dataset are scored 3, 2, 1. If one gene have 2 or more relate studies, and each study has at least one exact region for this gene, the gene will be listed below. The higher the score, the more confident the gene is. (More information about the dataset)
Gene ID Gene Symbol Band Gene Name #CNV studies Score
#Studies with exact region #Studies with deduced region
AutG83733 SLC25A18 22q11.21 solute carrier family 25 (mitochondrial carrier), member 18 3 0 1
AutG80764 THAP7 22q11.21 THAP domain containing 7 3 6 1
AutG4017 LOXL2 8p21.3 lysyl oxidase-like 2 2 1 1
AutG26137 ZBTB20 3q13.31 zinc finger and BTB domain containing 20 2 0 1
AutG9108 MTMR7 8p22 myotubularin related protein 7 2 1 1
AutG2679 GGT3P 22q11.21 gamma-glutamyltransferase 3 pseudogene 3 3 1
AutG5520 PPP2R2A 8p21.2 protein phosphatase 2, regulatory subunit B, alpha 2 2 1
AutG85359 DGCR6L 22q11.21 DiGeorge syndrome critical region gene 6-like 3 7 1
AutG9265 CYTH3 7p22.1 cytohesin 3 2 1 1
AutG51807 TUBA8 22q11.21 tubulin, alpha 8 3 0 1
AutG23759 PPIL2 22q11.21 peptidylprolyl isomerase (cyclophilin)-like 2 3 3 1
AutG2267 FGL1 8p22 fibrinogen-like 1 2 1 1
AutG91782 CHMP7 8p21.3 CHMP family, member 7 2 1 1
AutG55909 BIN3 8p21.3 bridging integrator 3 2 1 1
AutG150197 LOC150197 22q11.21 - 3 7 1
AutG83464 APH1B 15q22.2 anterior pharynx defective 1 homolog B (C. elegans) 2 1 1
AutG286097 EFHA2 8p22 EF-hand domain family, member A2 3 1 1
AutG661 POLR3D 8p21.3 polymerase (RNA) III (DNA directed) polypeptide D, 44kDa 2 1 1
AutG83860 TAF3 10p14 TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa 2 1 1
AutG9583 ENTPD4 8p21.3 ectonucleoside triphosphate diphosphohydrolase 4 2 1 1
Page Counts: 29/62  
29 First  Previous  28  29  30  Next  Last

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