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
AutG5395 PMS2 7p22.1 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 2 1 1
AutG157695 C8orf42 8p23.3 chromosome 8 open reading frame 42 3 3 1
AutG53947 A4GALT 22q13.2 alpha 1,4-galactosyltransferase 3 0 1
AutG11230 PRAF2 Xp11.23 PRA1 domain family, member 2 2 3 1
AutG654231 OCM 7p22.1 oncomodulin 2 1 1
AutG399473 SPRED3 19q13 sprouty-related, EVH1 domain containing 3 2 0 1
AutG26052 DNM3 1q24.3 dynamin 3 2 0 1
AutG8243 SMC1A Xp11.22 structural maintenance of chromosomes 1A 2 0 1
AutG23313 C22orf9 22q13.31 chromosome 22 open reading frame 9 3 1 1
AutG10245 TIMM17B Xp11.23 translocase of inner mitochondrial membrane 17 homolog B (yeast) 2 3 1
AutG11072 DUSP14 17q12 dual specificity phosphatase 14 2 2 1
AutG55687 TRMU 22q13.31 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 3 2 1
AutG85377 MICALL1 22q13.1 MICAL-like 1 2 0 1
AutG200316 APOBEC3F 22q13.1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F 2 1 1
AutG369 ARAF Xp11.3 v-raf murine sarcoma 3611 viral oncogene homolog 2 0 1
AutG55282 LRRC36 16q22.1 leucine rich repeat containing 36 2 0 1
AutG54984 PINX1 8p23 PIN2/TERF1 interacting, telomerase inhibitor 1 2 2 1
AutG653219 XAGE1A Xp11.22 X antigen family, member 1A 2 3 1
AutG116437 LOC116437 12q24.33 - 2 3 1
AutG7569 ZNF182 Xp11.23 zinc finger protein 182 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