Variant Details for AGPAT5
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 Links | Entrez 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 sequencing | neutral | 0.4875 | 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! |