Variant Details for OPLAH
Basic Information Top
| Gene Symbol: | OPLAH ( 5-Opase,DKFZp434H244,OPLA ) |
|---|---|
| Gene Full Name: | 5-oxoprolinase (ATP-hydrolysing) |
| Band: | 8q24.3 |
| Quick Links | Entrez ID:26873; OMIM: NA; Uniprot ID:OPLA_HUMAN; ENSEMBL ID: ENSG00000178814; HGNC ID: 8149 |
| 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 | 2 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002264 | 8 | 8q24.3 | 144984956 | 145175529 | 190573 | loss | external link | Pinto, 2010 |
| AutCNV0001475 | 8 | 8q24.3 | 145106180 | 145171677 | 65497 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 145114848 | C | Y | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 8 | 145110038 | C | T | PCR or Sanger sequencing | deleterious | 0.7719 | 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! | |||||||