AutismKB

Copy Number Variation Related Gene List(Chromosome View)

This dataset contains 1113 genes. 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
AutG57830 KRTAP5-8 11q13.4 keratin associated protein 5-8 2 1 1
AutG3028 HSD17B10 Xp11.2 hydroxysteroid (17-beta) dehydrogenase 10 2 0 1
AutG8500 PPFIA1 11q13.3 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 2 0 1
AutG4088 SMAD3 15q22.33 SMAD family member 3 2 1 1
AutG221395 GPR116 6p12.3 G protein-coupled receptor 116 3 0 1
AutG79159 NOL12 22q13.1 nucleolar protein 12 2 0 1
AutG653635 WASH7P 1p36.33 WAS protein family homolog 7 pseudogene 2 3 1
AutG27344 PCSK1N Xp11.23 proprotein convertase subtilisin/kexin type 1 inhibitor 2 3 1
AutG9500 MAGED1 Xp11.23 melanoma antigen family D, 1 2 3 1
AutG613211 DEFB134 8p23.1 defensin, beta 134 2 0 1
AutG729447 GAGE2A Xp11.23 G antigen 2A 2 3 1
AutG9929 JOSD1 22q13.1 Josephin domain containing 1 2 0 1
AutG53405 CLIC5 6p12.3 chloride intracellular channel 5 3 0 1
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  (e.g. NLGN4X)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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