Variant Details for PPARGC1A
Basic Information Top
Gene Symbol: | PPARGC1A ( LEM6,PGC-1(alpha),PGC-1v,PGC1,PGC1A,PPARGC1 ) |
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Gene Full Name: | peroxisome proliferator-activated receptor gamma, coactivator 1 alpha |
Band: | 4p15.2 |
Quick Links | Entrez ID:10891; OMIM: 604517; Uniprot ID:PRGC1_HUMAN; ENSEMBL ID: ENSG00000109819; HGNC ID: 9237 |
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 | 1 | 0 | 0 | 1 | 0 | 0 | 2 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0004058 | 4 | 4p15.2 | 23845094 | 24121571 | 276477 | 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 |
---|---|---|---|---|---|---|---|---|---|
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 |
---|---|---|---|---|---|---|---|---|---|
4 | 23875950 | G | A | Doan RN, 2016 |
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! |