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
AutG4668 NAGA 22q13.2 N-acetylgalactosaminidase, alpha- 3 0 1
AutG2137 EXTL3 8p21.1 exostoses (multiple)-like 3 2 0 1
AutG11078 TRIOBP 22q13.1 TRIO and F-actin binding protein 2 0 1
AutG23492 CBX7 22q13.1 chromobox homolog 7 2 1 1
AutG128954 GAB4 22q11.1 GRB2-associated binding protein family, member 4 2 1 1
AutG653220 XAGE1B Xp11.22 X antigen family, member 1B 2 3 1
AutG8225 GTPBP6 Xp22.33 and Yp11.32 GTP binding protein 6 (putative) 2 2 1
AutG2857 GPR34 Xp11.4 G protein-coupled receptor 34 2 0 1
AutG80179 MYO19 17q12 myosin XIX 2 3 1
AutG6624 FSCN1 7p22.1 fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) 2 1 1
AutG92745 SLC38A5 Xp11.23 solute carrier family 38, member 5 2 3 1
AutG84690 SPATA22 17p13.3 spermatogenesis associated 22 2 1 1
AutG7021 TFAP2B 6p12.3 transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 2 0 1
AutG23170 TTLL12 22q13.2 tubulin tyrosine ligase-like family, member 12 3 1 1
AutG56970 ATXN7L3 17q21.31 ataxin 7-like 3 2 0 1
AutG27437 HSFY1P1 22q11.1 heat shock transcription factor, Y-linked 1 pseudogene 1 2 1 1
AutG646074 POM121L10P 22q11.23 POM121 membrane glycoprotein-like 10, pseudogene 3 0 1
AutG10845 CLPX 15q22.31 ClpX caseinolytic peptidase X homolog (E. coli) 2 1 1
AutG27102 EIF2AK1 7p22.1 eukaryotic translation initiation factor 2-alpha kinase 1 2 1 1
AutG54328 GPR173 Xp11.22 G protein-coupled receptor 173 2 0 1
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  (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