AutismKB 2.0

Variant Details for AGPAT5


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Basic Information Top
Gene Symbol:AGPAT5 ( 1AGPAT5,LPAATE )
Gene Full Name: 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)
Band: 8p23.1
Quick LinksEntrez ID:55326; OMIM: NA; Uniprot ID:PLCE_HUMAN; ENSEMBL ID: ENSG00000155189; HGNC ID: 20886
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 1 0 0 0 0 6
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0000271 8 8p23 10000 12655629 12645629 loss external link Wassink, 2001
AutCNV0000264 8 8p21-23 10000 29644081 29634081 gain external link Papanikolaou, 2006
AutCNV0000023 8 8p23.1-23.3 1143493 6793540 5650047 loss external link Szatmari, 2007
AutCNV0000388 8 8p23.1 6572593 7672590 1099997 loss external link Cho, 2009
AutCNV0003940 8 8p23.1 6469896 6754122 284226 gain 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
8 6605326 G A Sanger sequencingneutral0.4875 De Rubeis S, 2014
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