Variant Details for POLR2A
Basic Information Top
| Gene Symbol: | POLR2A ( MGC75453,POLR2,POLRA,RPB1,RPBh1,RPO2,RPOL2,RpIILS,hRPB220,hsRPB1 ) |
|---|---|
| Gene Full Name: | polymerase (RNA) II (DNA directed) polypeptide A, 220kDa |
| Band: | 17p13.1 |
| Quick Links | Entrez ID:5430; OMIM: 180660; Uniprot ID:RPB1_HUMAN; ENSEMBL ID: ENSG00000181222; HGNC ID: 9187 |
| 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 | 1 | 2 | 0 | 0 | 0 | 1 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000732 | 17 | 17p13.2 | 4553251 | 7559275 | 3006024 | loss | external link | Bremer, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 7416351 | T | A | c.4768T>A | p.Ser1590Thr | Sanger sequencing | deleterious | 0.881 | Neale BM, 2012 |
| 17 | 7388093 | G | T | PCR or Sanger sequencing | deleterious | 0.7136 | 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000082 | 17p13.1 | 17 | D17S513 | 1.13 | - | - | Lamb, 2005 |