Variant Details for UCHL3


Gene Symbol: | UCHL3 ( UCH-L3 ) |
---|---|
Gene Full Name: | ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) |
Band: | 13q22.2 |
Quick Links | Entrez ID:7347; OMIM: 603090; Uniprot ID:UCHL3_HUMAN; ENSEMBL ID: ENSG00000118939; HGNC ID: 12515 |
Relate to Another Database: | SFARIGene; denovo-db |


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 | 1 | 0 | 0 | 0 | 0 | 2 |


CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000266 | 13 | 13q14-22 | 40602000 | 78901999 | 38299999 | loss | external link | Steele, 2001 |


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 |
---|---|---|---|---|---|---|---|---|---|
13 | 76140825 | T | A | strong | Iossifov I, 2014 |


Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
---|---|---|---|---|---|---|
No related data! |


Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
No related data! |


Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
No related data! |


Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
---|---|---|---|---|---|---|---|
No related data! |