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
AutG9502 XAGE2 Xp11.22 X antigen family, member 2 2 3 1
AutG221393 GPR115 6p12.3 G protein-coupled receptor 115 2 0 1
AutG27349 MCAT 22q13.2 malonyl CoA:ACP acyltransferase (mitochondrial) 3 1 1
AutG7757 ZNF208 19p12 zinc finger protein 208 2 1 1
AutG2574 GAGE2C Xp11.23 not on reference assembly G antigen 2C 2 3 1
AutG10454 TAB1 22q13.1 TGF-beta activated kinase 1/MAP3K7 binding protein 1 2 0 1
AutG199720 GGN 19q13.2 gametogenetin 2 0 1
AutG414325 DEFB103A 8p23.1 defensin, beta 103A 2 1 1
AutG2678 GGT1 22q11.23 gamma-glutamyltransferase 1 3 3 1
AutG253190 SERHL2 22q13.2 serine hydrolase-like 2 3 1 1
AutG64098 PARVG 22q13.31 parvin, gamma 3 1 1
AutG387590 psiTPTE22 22q11.1 - 2 1 1
AutG10081 PDCD7 15q22.31 programmed cell death 7 2 1 1
AutG2901 GRIK5 19q13.2 glutamate receptor, ionotropic, kainate 5 2 0 1
AutG57232 ZNF630 Xp11.23 zinc finger protein 630 2 0 1
AutG78995 C17orf53 17q21.31 chromosome 17 open reading frame 53 2 0 1
AutG23464 GCAT 22q13.1 glycine C-acetyltransferase 2 0 1
AutG26260 FBXO25 8p23.3 F-box protein 25 3 2 1
AutG11014 KDELR2 7p22.1 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 2 1 1
AutG7441 VPREB1 22q11.22 pre-B lymphocyte 1 3 4 1
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  (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