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
AutG2953 GSTT2 22q11.23 glutathione S-transferase theta 2 3 2 1
AutG23151 GRAMD4 22q13.31 GRAM domain containing 4 3 3 1
AutG139538 VENTXP1 Xp21.3 VENT homeobox (Xenopus laevis) pseudogene 1 2 0 1
AutG139420 SMEK3P Xp21.3 SMEK homolog 3, suppressor of mek1 (Dictyostelium) pseudogene 2 0 1
AutG4978 OPCML 11q25 opioid binding protein/cell adhesion molecule-like 2 4 1
AutG84191 FAM96A 15q22.31 family with sequence similarity 96, member A 2 1 1
AutG63929 XPNPEP3 22q13.2 X-prolyl aminopeptidase (aminopeptidase P) 3, putative 3 0 1
AutG317781 DDX51 12q24.33 DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 2 2 1
AutG11144 DMC1 22q13.1 DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) 2 0 1
AutG26807 SNORD43 22q13.1 small nucleolar RNA, C/D box 43 2 0 1
AutG3761 KCNJ4 22q13.1 potassium inwardly-rectifying channel, subfamily J, member 4 2 1 1
AutG10243 GPHN 14q23.3 gephyrin 2 1 1
AutG23604 DAPK2 15q22.31 death-associated protein kinase 2 2 1 1
AutG348094 ANKDD1A 15q22.31 ankyrin repeat and death domain containing 1A 2 1 1
AutG27128 CYTH4 22q13.1 cytohesin 4 2 0 1
AutG645037 GAGE2B Xp11.23 not on reference assembly G antigen 2B 2 3 1
AutG85379 KIAA1671 22q11.23 KIAA1671 3 2 1
AutG123263 MTFMT 15q22.31 mitochondrial methionyl-tRNA formyltransferase 2 2 1
AutG3975 LHX1 17q12 LIM homeobox 1 2 2 1
AutG51285 RASL12 15q22.31 RAS-like, family 12 2 2 1
Page Counts: 57/62  
57 First  Previous  56  57  58  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