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
AutG1727 CYB5R3 22q13.2 cytochrome b5 reductase 3 3 0 1
AutG9145 SYNGR1 22q13.1 synaptogyrin 1 2 0 1
AutG83746 L3MBTL2 22q13.2 l(3)mbt-like 2 (Drosophila) 3 0 1
AutG55166 CENPQ 6p12.3 centromere protein Q 2 0 1
AutG25830 SULT4A1 22q13.31 sulfotransferase family 4A, member 1 3 1 1
AutG677773 SCARNA23 Xp22.11 small Cajal body-specific RNA 23 2 0 1
AutG221955 DAGLB 7p22.1 diacylglycerol lipase, beta 2 1 1
AutG643832 GAGE10 Xp11.23 G antigen 10 2 3 1
AutG8908 GYG2 Xp22.33 glycogenin 2 2 4 1
AutG6753 SSTR3 22q13.1 somatostatin receptor 3 2 0 1
AutG4943 TBC1D25 Xp11.23 TBC1 domain family, member 25 2 3 1
AutG85301 COL27A1 9q32 collagen, type XXVII, alpha 1 2 1 1
AutG280660 SSX9 Xp11.23 synovial sarcoma, X breakpoint 9 2 0 1
AutG26286 ARFGAP3 22q13.2 ADP-ribosylation factor GTPase activating protein 3 3 0 1
AutG5155 PDGFB 22q13.1 platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog) 2 0 1
AutG392196 LOC392196 8p23.1 - 2 1 1
AutG9920 KBTBD11 8p23.3 kelch repeat and BTB (POZ) domain containing 11 3 1 1
AutG80301 PLEKHO2 15q22.31 pleckstrin homology domain containing, family O member 2 2 1 1
AutG51629 SLC25A39 17q21.31 solute carrier family 25, member 39 2 0 1
AutG79019 CENPM 22q13.2 centromere protein M 3 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