| Variant ID | 813 |
|---|---|
| Entrez Gene ID | 5972 |
| Gene | REN (GeneCards) |
| Location | hg19 1:204128555-204128555
hg38 1:204159427-204159427 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000001.10:g.204128555 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 221 |
| Amino acid changes in protein | E > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.7629 |
| CADD Raw score (version 1.3) | 0.686862 (Deleterious) |
| FATHMM raw prediction score | 0.84401 (Tolerated) |
| SIFT score | 0.662 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.982 (Tolerated) |
| MutatioinAssessor score | 1.515 (Tolerated) |
| PROVEAN score | -1.43 (Tolerated) |
| MetaSVM score | -1.042 (Tolerated) |
| MetaLR score | 0.09 (Tolerated) |
| MCAP score | 0.035 (Deleterious) |
| FitCons score | 0.497 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.44 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.382 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.656 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.132 |
| Deleterious probability by iFish2 | 0.3689 (Neutral) |
| Deleterious probability by DeFine | 0.9271 (Deleterious) |
| Entrez Gene ID | 5972 (NCBI Gene) |
|---|---|
| Official Gene Symbol | REN (GeneCards) |
| Number of variants in REN in this database | 1 (view all the variants) |
| Full name | renin |
| Band | 1q32.1 |
| Other IDs | Vega: OTTHUMG00000036059 OMIM: 179820 HGNC: HGNC:9958 Ensembl: ENSG00000143839 |
| Other names | HNFJ2 |
| Summary | Renin catalyzes the first step in the activation pathway of angiotensinogen--a cascade that can result in aldosterone release,vasoconstriction, and increase in blood pressure. Renin, an aspartyl protease, cleaves angiotensinogen to form angiotensin I, which is converted to angiotensin II by angiotensin I converting enzyme, an important regulator of blood pressure and electrolyte balance. Transcript variants that encode different protein isoforms and that arise from alternative splicing and the use of alternative promoters have been described, but their full-length nature has not been determined. Mutations in this gene have been shown to cause familial hyperproreninemia. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.01 (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; |