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
AutG286046 XKR6 8p23.1 XK, Kell blood group complex subunit-related family, member 6 2 1 1
AutG286042 FLJ10661 8p23.1 - 2 0 1
AutG81061 OR11H1 22q11.1 olfactory receptor, family 11, subfamily H, member 1 2 0 1
AutG10302 SNAPC5 15q22.31 small nuclear RNA activating complex, polypeptide 5, 19kDa 2 1 1
AutG595100 SNORD18C 15q22.31 small nucleolar RNA, C/D box 18C 2 1 1
AutG29109 FHOD1 16q22.1 formin homology 2 domain containing 1 2 0 1
AutG23108 RAP1GAP2 17p13.3 RAP1 GTPase activating protein 2 2 1 1
AutG51480 VCX2 Xp22.31 variable charge, X-linked 2 2 2 1
AutG150368 FAM109B 22q13.2 family with sequence similarity 109, member B 3 0 1
AutG1415 CRYBB2 22q11.23 crystallin, beta B2 3 1 1
AutG23060 ZNF609 15q22.1 zinc finger protein 609 2 2 1
AutG4947 OAZ2 15q22.31 ornithine decarboxylase antizyme 2 2 1 1
AutG79767 ELMO3 16q22.1 engulfment and cell motility 3 2 0 1
AutG54552 GNL3L Xp11.22 guanine nucleotide binding protein-like 3 (nucleolar)-like 2 0 1
AutG8484 GALR3 22q13.1 galanin receptor 3 2 0 1
AutG83741 TFAP2D 6p12.3 transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 2 0 1
AutG392465 GLOD5 Xp11.23 glyoxalase domain containing 5 2 3 1
AutG6756 SSX1 Xp11.23 synovial sarcoma, X breakpoint 1 2 0 1
AutG9768 KIAA0101 15q22.31 KIAA0101 2 1 1
AutG4248 MGAT3 22q13.1 mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 2 0 1
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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