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
AutG8852 AKAP4 Xp11.22 A kinase (PRKA) anchor protein 4 2 3 1
AutG5435 POLR2F 22q13.1 polymerase (RNA) II (DNA directed) polypeptide F 2 0 1
AutG2687 GGT5 22q11.23 gamma-glutamyltransferase 5 3 3 1
AutG27440 CECR5 - cat eye syndrome chromosome region, candidate 5 2 0 1
AutG4482 MSRA 8p23.1 methionine sulfoxide reductase A 3 2 1
AutG245913 DEFB110 6p12.3 defensin, beta 110 2 0 1
AutG158787 RIBC1 Xp11.22 RIB43A domain with coiled-coils 1 2 0 1
AutG150248 C22orf15 22q11.23 chromosome 22 open reading frame 15 3 3 1
AutG50 ACO2 22q13.2 aconitase 2, mitochondrial 3 0 1
AutG9402 GRAP2 22q13.1 GRB2-related adaptor protein 2 2 0 1
AutG10900 RUNDC3A 17q21.31 RUN domain containing 3A 2 0 1
AutG8483 CILP 15q22.31 cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 2 1 1
AutG3266 ERAS Xp11.23 ES cell expressed Ras 2 3 1
AutG29780 PARVB 22q13.31 parvin, beta 3 1 1
AutG51481 VCX3A Xp22.31 variable charge, X-linked 3A 2 3 1
AutG113828 FAM83F 22q13.1 family with sequence similarity 83, member F 2 0 1
AutG50863 NTM 11q25 neurotrimin 3 2 1
AutG113835 ZNF257 19p12 zinc finger protein 257 2 2 1
AutG65981 CAPRIN2 12p11.21 caprin family member 2 2 1 1
AutG1652 DDT 22q11.23 D-dopachrome tautomerase 3 2 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