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
AutG100033449 SNORD115-12 15q11.2 small nucleolar RNA, C/D box 115-12 7 12 2
AutG8926 SNURF 15q11.2 SNRPN upstream reading frame 8 10 2
AutG260434 PYDC1 16p11.2 PYD (pyrin domain) containing 1 4 1 2
AutG253980 KCTD13 16p11.2 potassium channel tetramerisation domain containing 13 6 10 2
AutG6524 SLC5A2 16p11.2 solute carrier family 5 (sodium/glucose cotransporter), member 2 4 1 2
AutG26471 NUPR1 16p11.2 nuclear protein, transcriptional regulator, 1 4 0 2
AutG146542 ZNF688 16p11.2 zinc finger protein 688 4 0 2
AutG440836 ODF3B 22q13.33 outer dense fiber of sperm tails 3B 4 4 2
AutG347746 PAR-SN 15q11.2 - 8 12 2
AutG11158 RABL2B 22q13.33 RAB, member of RAS oncogene family-like 2B 4 3 2
AutG49 ACR 22q13.33 acrosin 4 4 2
AutG4692 NDN 15q11.2 necdin homolog (mouse) 8 8 2
AutG112869 CCDC101 16p11.2 coiled-coil domain containing 101 4 0 2
AutG79759 ZNF668 16p11.2 zinc finger protein 668 4 0 2
AutG5600 MAPK11 22q13.33 mitogen-activated protein kinase 11 4 4 2
AutG727832 GOLGA6L6 15q11.2 golgin A6 family-like 6 8 5 2
AutG11151 CORO1A 16p11.2 coronin, actin binding protein, 1A 4 9 2
AutG677813 SNORA30 16p11.2 small nucleolar RNA, H/ACA box 30 4 0 2
AutG100033417 SNORD116-5 15q11.2 small nucleolar RNA, C/D box 116-5 7 12 2
AutG23742 C15orf2 15q11-q13 chromosome 15 open reading frame 2 8 9 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