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
AutG6262 RYR2 1q43 ryanodine receptor 2 (cardiac) 2 0 1
AutG152330 CNTN4 3p26.3-p26.2 contactin 4 2 5 1
AutG27185 DISC1 1q42.2 disrupted in schizophrenia 1 2 2 1
AutG5879 RAC1 7p22.1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 2 1 1
AutG8911 CACNA1I 22q13.1 calcium channel, voltage-dependent, T type, alpha 1I subunit 2 0 1
AutG23362 PSD3 8p22 pleckstrin and Sec7 domain containing 3 2 2 1
AutG9369 NRXN3 14q24.3-q31.1 neurexin 3 2 2 1
AutG1501 CTNND2 5p15.2 catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) 2 7 1
AutG5594 MAPK1 22q11.22 mitogen-activated protein kinase 1 3 3 1
AutG10559 SLC35A1 6q15 solute carrier family 35 (CMP-sialic acid transporter), member A1 2 0 1
AutG9342 SNAP29 22q11.21 synaptosomal-associated protein, 29kDa 3 7 1
AutG6095 RORA 15q22.2 RAR-related orphan receptor A 2 1 1
AutG80005 DOCK5 8p21.2 dedicator of cytokinesis 5 2 1 1
AutG51201 ZDHHC2 8p22 zinc finger, DHHC-type containing 2 2 1 1
AutG64478 CSMD1 8p23.2 CUB and Sushi multiple domains 1 3 5 1
AutG64641 EBF2 8p21.2 early B-cell factor 2 2 1 1
AutG102 ADAM10 15q21.3 ADAM metallopeptidase domain 10 2 2 1
AutG29801 ZDHHC8 22q11.21 zinc finger, DHHC-type containing 8 3 7 1
AutG6553 SLC9A5 16q22.1 solute carrier family 9 (sodium/hydrogen exchanger), member 5 2 0 1
AutG440822 PIWIL3 22q11.23 piwi-like 3 (Drosophila) 3 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