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
AutG23119 HIC2 22q11.21 hypermethylated in cancer 2 3 4 1
AutG92483 LDHAL6B 15q22.2 lactate dehydrogenase A-like 6B 2 2 1
AutG6545 SLC7A4 22q11.21 solute carrier family 7 (cationic amino acid transporter, y+ system), member 4 3 6 1
AutG157313 CDCA2 8p21.2 cell division cycle associated 2 2 1 1
AutG55246 CCDC25 8p21.1 coiled-coil domain containing 25 2 0 1
AutG29797 POM121L8P 22q11.21 POM121 membrane glycoprotein-like 8 pseudogene 3 4 1
AutG150209 AIFM3 22q11.21 apoptosis-inducing factor, mitochondrion-associated, 3 3 7 1
AutG27255 CNTN6 3p26.3 contactin 6 3 4 1
AutG9 NAT1 8p22 N-acetyltransferase 1 (arylamine N-acetyltransferase) 2 1 1
AutG23039 XPO7 8p21.3 exportin 7 2 1 1
AutG84222 TMEM191A 22q11.21 transmembrane protein 191A 3 7 1
AutG706 TSPO 22q13.2 translocator protein (18kDa) 3 1 1
AutG137492 VPS37A 8p22 vacuolar protein sorting 37 homolog A (S. cerevisiae) 2 1 1
AutG5533 PPP3CC 8p21.3 protein phosphatase 3, catalytic subunit, gamma isozyme 2 1 1
AutG266697 POM121L4P 22q11.2 POM121 membrane glycoprotein-like 4 pseudogene 3 7 1
AutG440279 UNC13C 15q21.3 unc-13 homolog C (C. elegans) 2 2 1
AutG663 BNIP2 15q22.2 BCL2/adenovirus E1B 19kDa interacting protein 2 2 2 1
AutG137075 CLDN23 8p23.1 claudin 23 2 0 1
AutG114294 LACTB 15q22.2 lactamase, beta 2 1 1
AutG50943 FOXP3 Xp11.23 forkhead box P3 2 3 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