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 | 567 | 133 | 425 |
| Samples | 204 | 62 | 139 |
| Peptides | 141 | 41 | 107 |
Function
MC1R · Melanocortin 1 receptor
This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
3 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.
Gene Properties
Recurrent Mutations
All 130 amino-acid changes on canonical ENST00000555147 · 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 MC1R · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MC1R – 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 |
|---|---|---|
| Chordoma | 2/7 29% | 1/13 8% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Rhabdomyosarcoma | 1/33 3% | 4/171 2% |
| Endometrial Carcinoma | 4/42 10% | 7/612 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Cervical Carcinoma | 1/35 3% | 4/422 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 7/1390 0% |
| Colorectal Carcinoma | 6/143 4% | 21/3239 1% |
| Gastric Carcinoma | 0/74 0% | 14/1809 1% |
| Ewings Sarcoma | 1/63 2% | 1/262 0% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Neuroendocrine Tumour | 3/154 2% | 1/577 0% |
| Ovarian Carcinoma | 2/109 2% | 4/998 0% |
| Esophageal Carcinoma | 3/23 13% | 1/769 0% |
| Melanoma | 4/210 2% | 6/1899 0% |
| Glioma | 2/52 4% | 8/2127 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 2/810 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
| Prostate Carcinoma | 2/13 15% | 7/2105 0% |
| Head and Neck Carcinoma | 1/85 1% | 5/1574 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 9/2550 0% |
| Other Solid Cancers | 3/94 3% | 2/1515 0% |
| Biliary Tract Carcinoma | 1/54 2% | 2/950 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 2/2534 0% |
Mutation Distribution
Where MC1R is mutated · all tissues, split by cell line vs tissue
How many mutations in MC1R 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 54 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 567 mutations in MC1R
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 |
|---|