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
AutG29781 NCAPH2 22q13.33 non-SMC condensin II complex, subunit H2 4 4 2
AutG9889 ZBED4 22q13.33 zinc finger, BED-type containing 4 5 5 2
AutG3687 ITGAX 16p11.2 integrin, alpha X (complement component 3 receptor 4 subunit) 4 1 2
AutG90835 C16orf93 16p11.2 chromosome 16 open reading frame 93 4 0 2
AutG100033433 SNORD116-22 15q11.2 small nucleolar RNA, C/D box 116-22 7 12 2
AutG100033438 SNORD116-26 15q11.2 small nucleolar RNA, C/D box 116-26 7 12 2
AutG100033428 SNORD116-16 15q11.2 small nucleolar RNA, C/D box 116-16 7 12 2
AutG6810 STX4 16p11.2 syntaxin 4 4 0 2
AutG150383 C22orf40 22q13.31 chromosome 22 open reading frame 40 4 2 2
AutG283796 GOLGA8IP 15q11.2 golgin A8 family, member I (pseudogene) 7 9 2
AutG79798 ARMC5 16p11.2 armadillo repeat containing 5 4 1 2
AutG84148 MYST1 16p11.2 MYST histone acetyltransferase 1 4 0 2
AutG100033815 SNORD115-41 15q11.2 small nucleolar RNA, C/D box 115-41 7 12 2
AutG440350 NPIPL1 16p11.2 nuclear pore complex interacting protein-like 1 4 0 2
AutG83642 SELO 22q13.33 - 4 4 2
AutG100033801 SNORD115-25 15q11.2 small nucleolar RNA, C/D box 115-25 7 12 2
AutG100033423 SNORD116-11 15q11.2 small nucleolar RNA, C/D box 116-11 7 12 2
AutG100033414 SNORD116-2 15q11.2 small nucleolar RNA, C/D box 116-2 7 12 2
AutG23779 ARHGAP8 22q13.31 Rho GTPase activating protein 8 4 1 2
AutG8123 PAR5 15q11-q13 - 7 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