Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Total = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 440 | 46 | 370 |
| Samples | 221 | 30 | 185 |
| Peptides | 185 | 23 | 155 |
Function
REN · Renin
This gene encodes renin, an aspartic protease that is secreted by the kidneys. Renin is a part of the renin-angiotensin-aldosterone system involved in regulation of blood pressure, and electrolyte balance. This enzyme catalyzes the first step in the activation pathway of angiotensinogen by cleaving angiotensinogen to form angiotensin I, which is then converted to angiotensin II by angiotensin I converting enzyme. This cascade can result in aldosterone release, narrowing of blood vessels, and increase in blood pressure as angiotension II is a vasoconstrictive peptide. 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 hyperuricemic nephropathy familial juvenile 2, familial hyperproreninemia, and renal tubular dysgenesis. [provided by RefSeq, May 2020].
Isoforms & Proteins
2 transcripts · UniProt mapping is sequence-verified (AA-safe)
Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.
The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.
Counts are mutations and unique mutant peptides on each transcript.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000272190 | P00797 | 240 | 181 |
| ENST00000638118 | A0A1B0GUZ2* | 200 | 157 |
Gene Properties
Recurrent Mutations
All 181 amino-acid changes on canonical ENST00000272190 · needle height = samples · drag the mini-map to zoom
A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).
X-axis = amino-acid position in the protein.
Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.
The most recurrent changes are labelled; hover any needle for the change, position and counts.
Mutation frequency across cancer types
% of samples with a missense/complex mutation in REN · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in REN – counted as distinct samples (a sample counts once no matter how many mutations it has).
Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.
| Cancer type | Cell lines | Tissue samples |
|---|---|---|
| Melanoma | 2/210 1% | 38/1899 2% |
| Endometrial Carcinoma | 1/42 2% | 10/612 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Colorectal Carcinoma | 7/143 5% | 24/3239 1% |
| Bladder Carcinoma | 0/58 0% | 9/956 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Other Solid Cancers | 0/94 0% | 13/1515 1% |
| Gastric Carcinoma | 0/74 0% | 15/1809 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 6/1390 0% |
| Hepatocellular Carcinoma | 0/46 0% | 13/2210 1% |
| Head and Neck Carcinoma | 0/85 0% | 8/1574 1% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
| Other Sarcomas | 1/69 1% | 2/699 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Ovarian Carcinoma | 0/109 0% | 4/998 0% |
| Prostate Carcinoma | 3/13 23% | 4/2105 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Breast Carcinoma | 4/144 3% | 6/3264 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Neuroendocrine Tumour | 1/154 1% | 1/577 0% |
| Pancreatic Carcinoma | 1/89 1% | 3/1611 0% |
| Glioma | 0/52 0% | 5/2127 0% |
| Kidney Carcinoma | 0/85 0% | 4/1862 0% |
| Neuroblastoma | 2/87 2% | 0/1331 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 1/2534 0% |
| Other Blood Cancers | 2/61 3% | 0/2725 0% |
Mutation Distribution
Where REN is mutated · all tissues, split by cell line vs tissue
How many mutations in REN were found in each tissue, across the whole database.
Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.
This shows the cancer-context where this gene is recurrently altered.
GTEx Expression
Median TPM across 46 healthy tissues
Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.
Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.
Scroll or drag the mini-axis below the chart to browse all tissues.
Mutations
All 440 mutations in REN
Every mutation record for this gene, across all samples and sources.
The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).
Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|