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
AutG8663 EIF3C 16p11.2 eukaryotic translation initiation factor 3, subunit C 4 0 2
AutG388228 SBK1 16p11.2 SH3-binding domain kinase 1 4 0 2
AutG23774 BRD1 22q13.33 bromodomain containing 1 5 5 2
AutG8448 DOC2A 16p11.2 double C2-like domains, alpha 4 10 2
AutG338428 SNORD109A 15q11.2 small nucleolar RNA, C/D box 109A 7 12 2
AutG339105 PRSS53 16p11.2 protease, serine, 53 4 0 2
AutG2521 FUS 16p11.2 fused in sarcoma 4 1 2
AutG100033454 SNORD115-16 15q11.2 small nucleolar RNA, C/D box 115-16 7 12 2
AutG9961 MVP 16p11.2 major vault protein 5 10 2
AutG728689 EIF3CL 16p12.1 eukaryotic translation initiation factor 3, subunit C-like 4 0 2
AutG493829 TRIM72 16p11.2 tripartite motif-containing 72 4 1 2
AutG79924 ADM2 22q13.33 adrenomedullin 2 5 4 2
AutG100033416 SNORD116-4 15q11.2 small nucleolar RNA, C/D box 116-4 7 12 2
AutG347745 PAR4 15q11.2 - 7 12 2
AutG23247 KIAA0556 16p12.1 KIAA0556 4 0 2
AutG100033804 SNORD115-30 15q11.2 small nucleolar RNA, C/D box 115-30 7 12 2
AutG79447 C16orf53 16p11.2 chromosome 16 open reading frame 53 5 10 2
AutG440362 HERC2P4 16p11.2 hect domain and RLD 2 pseudogene 4 4 2 2
AutG1890 TYMP 22q13.33 thymidine phosphorylase 4 4 2
AutG164714 TTLL8 22q13.33 tubulin tyrosine ligase-like family, member 8 4 6 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