| Variant ID | 1045 |
|---|---|
| Entrez Gene ID | 5434 |
| Gene | POLR2E (GeneCards) |
| Location | hg19 19:1091887-1091887
hg38 19:1091888-1091888 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000019.9:g.1091887 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 84 |
| Amino acid changes in protein | I > I |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.2182 |
| CADD Raw score (version 1.3) | 1.298186 (Deleterious) |
| FATHMM raw prediction score | 0.95973 (Tolerated) |
| Deleterious probability by DeFine | 0.8123 (Deleterious) |
| Entrez Gene ID | 5434 (NCBI Gene) |
|---|---|
| Official Gene Symbol | POLR2E (GeneCards) |
| Number of variants in POLR2E in this database | 1 (view all the variants) |
| Full name | RNA polymerase II subunit E |
| Band | 19p13.3 |
| Other IDs | Vega: OTTHUMG00000181873 OMIM: 180664 HGNC: HGNC:9192 Ensembl: ENSG00000099817 |
| Other names | RPB5, XAP4, RPABC1, hRPB25, hsRPB5 |
| Summary | This gene encodes the fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases and is present in two-fold molar excess over the other polymerase subunits. An interaction between this subunit and a hepatitis virus transactivating protein has been demonstrated, suggesting that interaction between transcriptional activators and the polymerase can occur through this subunit. A pseudogene is located on chromosome 11. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |