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
AutG353514 LILRA5 19q13.42 leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 2 2 1
AutG9127 P2RX6 22q11.21 purinergic receptor P2X, ligand-gated ion channel, 6 3 6 1
AutG427 ASAH1 8p22 N-acylsphingosine amidohydrolase (acid ceramidase) 1 3 1 1
AutG10863 ADAM28 8p21.2 ADAM metallopeptidase domain 28 2 1 1
AutG54778 RNF111 15q22.1-q22.2 ring finger protein 111 3 2 1
AutG11178 LZTS1 8p21.3 leucine zipper, putative tumor suppressor 1 2 2 1
AutG7991 TUSC3 8p22 tumor suppressor candidate 3 2 2 1
AutG148 ADRA1A 8p21.2 adrenergic, alpha-1A-, receptor 2 1 1
AutG79873 NUDT18 8p21.3 nudix (nucleoside diphosphate linked moiety X)-type motif 18 2 1 1
AutG79664 NARG2 15q22.2 NMDA receptor regulated 2 2 1 1
AutG23786 BCL2L13 22q11.21 BCL2-like 13 (apoptosis facilitator) 3 0 1
AutG5157 PDGFRL 8p22 platelet-derived growth factor receptor-like 2 1 1
AutG55806 HR 8p21.3 hairless homolog (mouse) 2 1 1
AutG27443 CECR2 22q11.1-q11.21 cat eye syndrome chromosome region, candidate 2 3 1 1
AutG64236 PDLIM2 8p21.3 PDZ and LIM domain 2 (mystique) 2 1 1
AutG6781 STC1 8p21.2 stanniocalcin 1 2 1 1
AutG91653 BOC 3q13.2 Boc homolog (mouse) 2 1 1
AutG203069 R3HCC1 8p21.3 R3H domain and coiled-coil containing 1 2 1 1
AutG150221 RIMBP3C 22q11.21 RIMS binding protein 3C 3 4 1
AutG3990 LIPC 15q21.3 lipase, hepatic 2 4 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