Variant Details for UPP1
Basic Information Top
| Gene Symbol: | UPP1 ( UDRPASE,UP,UPASE,UPP ) |
|---|---|
| Gene Full Name: | uridine phosphorylase 1 |
| Band: | 7p12.3 |
| Quick Links | Entrez ID:7378; OMIM: 191730; Uniprot ID:UPP1_HUMAN; ENSEMBL ID: ENSG00000183696; HGNC ID: 12576 |
| 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 | 1 | 0 | 0 | 0 | 1 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000255 | 7 | 7p11.2-14.1 | 37533475 | 57396058 | 19862583 | gain | external link | Wolpert, 2001 |
| AutCNV0001255 | 7 | 7p12.3 | 47973034 | 48999108 | 1026074 | loss | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 48147088 | C | T | Sanger sequencing | 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000145 | 7p11.2-14.1 | 7 | - | - | 3.18 | - | Allen-Brady, 2008 |