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
AutG2895 GRID2 4q22.1-q22.2 glutamate receptor, ionotropic, delta 2 2 2 1
AutG55790 CSGALNACT1 8p21.3 chondroitin sulfate N-acetylgalactosaminyltransferase 1 2 3 1
AutG64788 LMF1 16p13.3 lipase maturation factor 1 2 3 1
AutG197003 MGC15885 15q22.2 - 2 1 1
AutG64760 FAM160B2 8p21.3 family with sequence similarity 160, member B2 2 1 1
AutG83660 TLN2 15q22.2 talin 2 2 1 1
AutG55124 PIWIL2 8p21.3 piwi-like 2 (Drosophila) 2 1 1
AutG2039 EPB49 8p21.1 erythrocyte membrane protein band 4.9 (dematin) 2 1 1
AutG145645 C15orf43 15q21.1 chromosome 15 open reading frame 43 2 0 1
AutG80346 REEP4 8p21.3 receptor accessory protein 4 2 1 1
AutG26281 FGF20 8p22 fibroblast growth factor 20 2 1 1
AutG400891 LOC400891 22q11.21 - 3 6 1
AutG3241 HPCAL1 2p25.1 hippocalcin-like 1 2 0 1
AutG11026 LILRA3 19q13.4 alternate reference locus leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 2 2 1
AutG2796 GNRH1 8p21.2 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 2 1 1
AutG7076 TIMP1 Xp11.3 TIMP metallopeptidase inhibitor 1 2 0 1
AutG150185 LOC150185 22q11.21 - 3 7 1
AutG665 BNIP3L 8p21.2 BCL2/adenovirus E1B 19kDa interacting protein 3-like 2 1 1
AutG10687 PNMA2 8p21.2 paraneoplastic antigen MA2 2 1 1
AutG8797 TNFRSF10A 8p21.3 tumor necrosis factor receptor superfamily, member 10a 2 1 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