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
AutG6300 MAPK12 22q13.33 mitogen-activated protein kinase 12 4 4 2
AutG83723 FAM57B 16p11.2 family with sequence similarity 57, member B 4 10 2
AutG348645 C22orf34 22q13.33 chromosome 22 open reading frame 34 4 9 2
AutG440354 LOC440354 16p11.2 - 5 9 2
AutG338433 SNORD115-1 15q11.2 small nucleolar RNA, C/D box 115-1 7 12 2
AutG25970 SH2B1 16p11.2 SH2B adaptor protein 1 8 2 2
AutG55911 APOB48R 16p11 - 4 0 2
AutG729355 TP53TG3B 16p11.2 TP53 target 3B 4 2 2
AutG595101 LOC595101 16p11.2 - 4 7 2
AutG83719 YPEL3 16p11.2 yippee-like 3 (Drosophila) 5 10 2
AutG283933 ZNF843 16p11.2 zinc finger protein 843 4 1 2
AutG100033444 SNORD115-7 15q11.2 small nucleolar RNA, C/D box 115-7 7 12 2
AutG226 ALDOA 16p11.2 aldolase A, fructose-bisphosphate 5 10 2
AutG100033456 SNORD115-18 15q11.2 small nucleolar RNA, C/D box 115-18 7 12 2
AutG100033817 SNORD115-43 15q11.2 small nucleolar RNA, C/D box 115-43 7 12 2
AutG84901 NFATC2IP 16p11.2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein 6 2 2
AutG100033421 SNORD116-9 15q11.2 small nucleolar RNA, C/D box 116-9 7 12 2
AutG727708 SNORD116-19 15q11.2 small nucleolar RNA, C/D box 116-19 7 12 2
AutG390688 CDC37P1 16p11.2 cell division cycle 37 homolog (S. cerevisiae) pseudogene 1 4 0 2
AutG100036567 HBII-52-46 15q11.2 - 7 12 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