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
AutG10013 HDAC6 Xp11.23 histone deacetylase 6 2 3 1
AutG10766 TOB2 22q13.2 transducer of ERBB2, 2 3 0 1
AutG245928 DEFB114 6p12.3 defensin, beta 114 2 0 1
AutG2055 CLN8 8p23.3 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 3 2 1
AutG84433 CARD11 7p22.2 caspase recruitment domain family, member 11 2 1 1
AutG245940 DEFB130 8p23.1 defensin, beta 130 2 1 1
AutG57722 IGDCC4 15q22.31 immunoglobulin superfamily, DCC subclass, member 4 2 1 1
AutG4320 MMP11 22q11.23 matrix metallopeptidase 11 (stromelysin 3) 3 3 1
AutG389643 C8orf80 8p21.1 chromosome 8 open reading frame 80 2 0 1
AutG115752 DIS3L 15q22.31 DIS3 mitotic control homolog (S. cerevisiae)-like 2 1 1
AutG139189 DGKK Xp11.22 diacylglycerol kinase, kappa 2 3 1
AutG55872 PBK 8p21.1 PDZ binding kinase 2 0 1
AutG9779 TBC1D5 3p24.3 TBC1 domain family, member 5 2 2 1
AutG4991 OR1D2 17p13.3 olfactory receptor, family 1, subfamily D, member 2 2 1 1
AutG1565 CYP2D6 22q13.2 cytochrome P450, family 2, subfamily D, polypeptide 6 3 0 1
AutG1997 ELF1 13q14.11 E74-like factor 1 (ets domain transcription factor) 2 1 1
AutG157285 SGK223 8p23.1 - 2 0 1
AutG1672 DEFB1 8p23.1 defensin, beta 1 2 3 1
AutG283209 PGM2L1 11q13.4 phosphoglucomutase 2-like 1 2 0 1
AutG442213 C6orf138 6p12.3 chromosome 6 open reading frame 138 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