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
AutG339201 C17orf65 17q21.31 chromosome 17 open reading frame 65 2 0 1
AutG645051 GAGE13 Xp11.23 G antigen 13 2 3 1
AutG6757 SSX2 Xp11.22 synovial sarcoma, X breakpoint 2 2 2 1
AutG10321 CRISP3 6p12.3 cysteine-rich secretory protein 3 2 0 1
AutG7006 TEC 4p12-p11 tec protein tyrosine kinase 2 0 1
AutG504180 DEFB105B 8p23.1 defensin, beta 105B 2 1 1
AutG344561 GPR148 2q21.1 G protein-coupled receptor 148 2 1 1
AutG27197 GPR82 Xp11.4 G protein-coupled receptor 82 2 1 1
AutG388886 C22orf36 22q11.23 chromosome 22 open reading frame 36 3 3 1
AutG23532 PRAME 22q11.22 preferentially expressed antigen in melanoma 3 4 1
AutG80152 CENPT 16q22.1 centromere protein T 2 0 1
AutG60489 APOBEC3G 22q13.1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G 2 1 1
AutG170627 XAGE5 Xp11.22 X antigen family, member 5 2 0 1
AutG503841 DEFB106B 8p23.1 defensin, beta 106B 2 1 1
AutG94009 SERHL 22q13.2 serine hydrolase-like 3 1 1
AutG100037417 DDTL 22q11.23 D-dopachrome tautomerase-like 3 2 1
AutG10166 SLC25A15 13q14.11 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 2 1 1
AutG6642 SNX1 15q22.31 sorting nexin 1 2 1 1
AutG3957 LGALS2 22q13.1 lectin, galactoside-binding, soluble, 2 2 0 1
AutG8409 UXT Xp11.23 ubiquitously-expressed transcript 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