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
AutG79640 C22orf46 22q13.2 chromosome 22 open reading frame 46 3 0 1
AutG29774 POM121L9P 22q11.23 POM121 membrane glycoprotein-like 9, pseudogene 3 3 1
AutG728239 MAGED4 Xp11.22 melanoma antigen family D, 4 2 3 1
AutG5199 CFP Xp11.23 complement factor properdin 2 0 1
AutG150165 XKR3 22q11.1 XK, Kell blood group complex subunit-related family, member 3 2 1 1
AutG64109 CRLF2 Xp22.3 and Yp11.3 cytokine receptor-like factor 2 2 3 1
AutG26749 GAGE2E Xp11.23 G antigen 2E 2 3 1
AutG4224 MEP1A 6p12.3 meprin A, alpha (PABA peptide hydrolase) 2 0 1
AutG11193 WBP4 13q14.11 WW domain binding protein 4 (formin binding protein 21) 2 1 1
AutG10204 NUTF2 16q22.1 nuclear transport factor 2 2 0 1
AutG5372 PMM1 22q13.2 phosphomannomutase 1 3 0 1
AutG1438 CSF2RA Xp22.32 and Yp11.3 colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 2 3 1
AutG7180 CRISP2 6p12.3 cysteine-rich secretory protein 2 2 0 1
AutG57591 MKL1 22q13.1-q13.2 megakaryoblastic leukemia (translocation) 1 3 1 1
AutG9609 RAB36 22q11.23 RAB36, member RAS oncogene family 3 2 1
AutG245927 DEFB113 6p12.3 defensin, beta 113 2 0 1
AutG64743 WDR13 Xp11.23 WD repeat domain 13 2 3 1
AutG56241 SUSD2 22q11.23 sushi domain containing 2 3 3 1
AutG84844 PHF5A 22q13.2 PHD finger protein 5A 3 0 1
AutG283208 P4HA3 11q13.4 prolyl 4-hydroxylase, alpha polypeptide III 3 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