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
AutG124411 ZNF720 16p11.2 zinc finger protein 720 4 1 2
AutG5531 PPP4C 16p11.2 protein phosphatase 4, catalytic subunit 5 10 2
AutG283899 INO80E 16p11.2 INO80 complex subunit E 5 10 2
AutG338429 SNORD109B 15q11.2 small nucleolar RNA, C/D box 109B 7 12 2
AutG85378 TUBGCP6 22q13.33 tubulin, gamma complex associated protein 6 4 4 2
AutG415116 PIM3 22q13.33 pim-3 oncogene 5 5 2
AutG79874 RABEP2 16p11.2 rabaptin, RAB GTPase binding effector protein 2 6 2 2
AutG100033814 SNORD115-40 15q11.2 small nucleolar RNA, C/D box 115-40 7 12 2
AutG83933 HDAC10 22q13.33 histone deacetylase 10 4 4 2
AutG7041 TGFB1I1 16p11.2 transforming growth factor beta 1 induced transcript 1 5 1 2
AutG100033805 SNORD115-31 15q11.2 small nucleolar RNA, C/D box 115-31 7 12 2
AutG100033422 SNORD116-10 15q11.2 small nucleolar RNA, C/D box 116-10 7 12 2
AutG284942 RPL23AP82 22q13.33 ribosomal protein L23a pseudogene 82 4 3 2
AutG100033445 SNORD115-8 15q11.2 small nucleolar RNA, C/D box 115-8 7 12 2
AutG553158 PRR5-ARHGAP8 22q13.31 PRR5-ARHGAP8 readthrough 4 1 2
AutG64781 CERK 22q13.31 ceramide kinase 4 3 2
AutG146378 C16orf92 16p11.2 chromosome 16 open reading frame 92 5 10 2
AutG10308 ZNF267 16p11.2 zinc finger protein 267 4 1 2
AutG3653 IPW 15q11.2 imprinted in Prader-Willi syndrome (non-protein coding) 7 12 2
AutG79153 GDPD3 16p11.2 glycerophosphodiester phosphodiesterase domain containing 3 5 10 2
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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