Variant Details for UGT1A4
Basic Information Top
| Gene Symbol: | UGT1A4 ( HUG-BR2,UDPGT,UDPGT 1-4,UGT1D ) |
|---|---|
| Gene Full Name: | UDP glucuronosyltransferase 1 family, polypeptide A4 |
| Band: | 2q37.1 |
| Quick Links | Entrez ID:54657; OMIM: 606429; Uniprot ID:UD14_HUMAN; ENSEMBL ID: ENSG00000167165,ENSG00000240224,ENSG00000241119,EN; HGNC ID: 12536 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick 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 | 2 | 3 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003157 | 2 | 2q37.1 | 234611094 | 234709540 | 98446 | loss | external link | Gai, 2011 |
| AutCNV0004960 | 15 | 45101051 | 45296154 | 195103 | gain | external link | Brand H, 2015 |
NGS de novo Mutations TopiFish (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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 234628270 | G | A | strong | Iossifov I, 2014 | ||||
| 2 | 234628270 | G | A | strong | Iossifov I, 2014 | ||||
| 2 | 234628270 | G | A | strong | Iossifov I, 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! | |||||||