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
AutG9378 NRXN1 2p16.3 neurexin 1 9 7 3
AutG2562 GABRB3 15q12 gamma-aminobutyric acid (GABA) A receptor, beta 3 12 13 3
AutG2558 GABRA5 15q12 gamma-aminobutyric acid (GABA) A receptor, alpha 5 9 13 3
AutG23191 CYFIP1 15q11.2 cytoplasmic FMR1 interacting protein 1 10 10 3
AutG123606 NIPA1 15q11.2 non imprinted in Prader-Willi/Angelman syndrome 1 10 10 3
AutG161725 OTUD7A 15q13.3 OTU domain containing 7A 9 11 3
AutG4308 TRPM1 15q13.3 transient receptor potential cation channel, subfamily M, member 1 9 14 3
AutG89839 ARHGAP11B 15q13.2 Rho GTPase activating protein 11B 9 12 3
AutG1139 CHRNA7 15q13.3 cholinergic receptor, nicotinic, alpha 7 9 11 3
AutG114791 TUBGCP5 15q11.2 tubulin, gamma complex associated protein 5 11 10 3
AutG2567 GABRG3 15q12 gamma-aminobutyric acid (GABA) A receptor, gamma 3 10 14 3
AutG54893 MTMR10 15q13.3 myotubularin related protein 10 9 12 3
AutG8924 HERC2 15q13.1 hect domain and RLD 2 9 12 3
AutG81614 NIPA2 15q11.2 non imprinted in Prader-Willi/Angelman syndrome 2 10 10 3
AutG390538 OR4M2 15q11.2 olfactory receptor, family 4, subfamily M, member 2 9 5 3
AutG727924 LOC727924 15q11.2 - 9 5 3
AutG54551 MAGEL2 15q11.2 MAGE-like 2 9 8 3
AutG283694 OR4N4 15q11.2 olfactory receptor, family 4, subfamily N, member 4 9 5 3
AutG85358 SHANK3 22q13.33 SH3 and multiple ankyrin repeat domains 3 8 6 2
AutG57680 CHD8 14q11.2 chromodomain helicase DNA binding protein 8 5 0 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