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
AutG6567 SLC16A2 Xq13.2 solute carrier family 16, member 2 (monocarboxylic acid transporter 8) 2 0 1
AutG4007 PRICKLE3 Xp11.23 prickle homolog 3 (Drosophila) 2 3 1
AutG27351 PPPDE2 22q13.2 PPPDE peptidase domain containing 2 3 0 1
AutG5714 PSMD8 19q13.2 proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 2 0 1
AutG5479 PPIB 15q22.31 peptidylprolyl isomerase B (cyclophilin B) 2 1 1
AutG81556 C15orf44 15q22.31 chromosome 15 open reading frame 44 2 1 1
AutG613209 DEFB135 8p23.1 defensin, beta 135 2 0 1
AutG158809 MAGEB6 Xp21.3 melanoma antigen family B, 6 2 0 1
AutG5101 PCDH9 13q21.32 protocadherin 9 2 6 1
AutG79668 PARP8 5q11.1 poly (ADP-ribose) polymerase family, member 8 2 0 1
AutG8766 RAB11A 15q22.31 RAB11A, member RAS oncogene family 2 1 1
AutG55964 SEPT3 22q13.2 septin 3 3 0 1
AutG7976 FZD3 8p21.1 frizzled homolog 3 (Drosophila) 2 0 1
AutG283383 GPR133 12q24.33 G protein-coupled receptor 133 2 3 1
AutG653067 XAGE1E Xp11.22 X antigen family, member 1E 2 3 1
AutG6634 SNRPD3 22q11.23 small nuclear ribonucleoprotein D3 polypeptide 18kDa 3 3 1
AutG2802 GOLGA3 12q24.33 golgin A3 2 2 1
AutG4700 NDUFA6 22q13.2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa 3 0 1
AutG266977 GPR110 6p12.3 G protein-coupled receptor 110 2 0 1
AutG389396 GLYATL3 6p12.3 glycine-N-acyltransferase-like 3 2 0 1
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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