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
AutG9114 ATP6V0D1 16q22.1 ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 2 0 1
AutG79811 SLTM 15q22.1 SAFB-like, transcription modulator 2 2 1
AutG5422 POLA1 Xp22.11-p21.3 polymerase (DNA directed), alpha 1, catalytic subunit 2 0 1
AutG171568 POLR3H 22q13.2 polymerase (RNA) III (DNA directed) polypeptide H (22.9kD) 3 0 1
AutG2002 ELK1 Xp11.23 ELK1, member of ETS oncogene family 2 0 1
AutG638 BIK 22q13.2 BCL2-interacting killer (apoptosis-inducing) 3 1 1
AutG6874 TAF4 20q13.33 TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 2 0 1
AutG7454 WAS Xp11.23 Wiskott-Aldrich syndrome (eczema-thrombocytopenia) 2 3 1
AutG55893 ZNF395 8p21.1 zinc finger protein 395 2 0 1
AutG3117 HLA-DQA1 6p21.32 major histocompatibility complex, class II, DQ alpha 1 2 0 1
AutG5368 PNOC 8p21.1 prepronociceptin 2 0 1
AutG1191 CLU 8p21.1 clusterin 2 0 1
AutG79089 TMUB2 17q21 transmembrane and ubiquitin-like domain containing 2 2 0 1
AutG3543 IGLL1 22q11.23 immunoglobulin lambda-like polypeptide 1 3 3 1
AutG9647 PPM1F 22q11.22 protein phosphatase, Mg2+/Mn2+ dependent, 1F 3 3 1
AutG5465 PPARA 22q13.31 peroxisome proliferator-activated receptor alpha 3 2 1
AutG80115 BAIAP2L2 22q13.1 BAI1-associated protein 2-like 2 2 1 1
AutG2308 FOXO1 13q14.11 forkhead box O1 2 1 1
AutG9463 PICK1 22q13.1 protein interacting with PRKCA 1 2 1 1
AutG3005 H1F0 22q13.1 H1 histone family, member 0 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