AutismKB 2.0

Variant Details for XAGE1C


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Basic Information Top
Gene Symbol:XAGE1C ( CT12.1C,CTP9,GAGED2,XAGE1A,XAGE1B,XAGE1D,XAGE1E )
Gene Full Name: X antigen family, member 1C
Band: Xp11.22
Quick LinksEntrez ID:653048; OMIM: 300744; Uniprot ID:GAGD2_HUMAN; ENSEMBL ID: ENSG00000183461; HGNC ID: 30679
Relate to Another Database: SFARIGene; denovo-db
Variant Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
Genetic Category CNVs/SVs de novo Mutations Mosaics SNVs NGS Other Mutations Low-Scale Gene Mutations Linkage Regions Total
Number 5 0 0 0 0 0 5
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000162 X Xp11.23-p11.22 48317346 52833945 4516599 gain external link Marshall, 2008
AutCNV0004400 X Xp11.22-p11.23 48188656 52700241 4511585 gain external link Sanders, 2011
AutCNV0003118 X Xp11.22-p11.23 48286850 52802958 4516108 gain external link Chung, 2011
AutCNV0000714 X Xp11.22-p11.23 47415056 54683275 7268219 gain external link Edens, 2011
AutCNV0000713 X Xp11.2-p22.33 60000 56583275 56523275 gain external link Edens, 2011
NGS de novo Mutations Top
iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
Chr Pos Ref Alt Coding AA Validated Method iFish Prediction iFish Probability Reference
No related data!
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
No related data!
NGS Other Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
No related data!




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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