AutismKB 2.0

Variant Details for TMEM8A


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Basic Information Top
Gene Symbol:TMEM8A ( M83,TMEM6,TMEM8 )
Gene Full Name: transmembrane protein 8A
Band: 16p13.3
Quick LinksEntrez ID:58986; OMIM: NA; Uniprot ID:TMM8A_HUMAN; ENSEMBL ID: ENSG00000129925; HGNC ID: 17205
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 3 1 0 0 0 2 6
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0004325 16 16p13.3 60835 1313637 1252802 loss external link Sanders, 2011
AutCNV0004146 16 16p13.3 395989 494447 98458 gain external link Levy, 2011
AutCNV0003839 16 16p13.3 81530 1315850 1234320 loss external link Levy, 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
16 426580 C T c.868G>A p.Gly290Arg Sanger sequencingneutral0.0876 Sanders SJ, 2012
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
AutLD0000091 16p13 16 D16S2619 - 2.17 - Buxbaum, 2004
AutLD0000138 16p13.3 16 D16S748 - - 0.00117 Lauritsen, 2006




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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