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 | 1,904 | 271 | 1,564 |
| Samples | 216 | 31 | 173 |
| Peptides | 387 | 64 | 328 |
Function
MUC1 · Mucin 1, cell surface associated
This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011].
Isoforms & Proteins
19 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 |
|---|---|---|---|
| ENST00000620103 | A0A0C4DGW3* | 196 | 157 |
| ENST00000337604 | P15941-8 | 151 | 121 |
| ENST00000368392 | P15941-11 | 137 | 108 |
| ENST00000368390 | P15941-7 | 127 | 103 |
| ENST00000457295 | A0A0A0MSH4* | 122 | 100 |
| ENST00000368398 | P15941-6 | 114 | 93 |
| ENST00000610359 | A0A087X0L2* | 109 | 89 |
| ENST00000343256 | P15941-10 | 108 | 82 |
| ENST00000338684 | A0A0A0MRB3* | 107 | 88 |
| ENST00000438413 | B1AVQ7* | 104 | 85 |
| ENST00000615517 | A6ZIE4* | 101 | 80 |
| ENST00000342482 | P15941-16 | 91 | 71 |
| ENST00000368389 | P15941-9 | 87 | 72 |
| ENST00000368393 | P15941-13 | 87 | 75 |
| ENST00000368396 | P15941-12 | 83 | 68 |
| ENST00000471283 | A0A087X264* | 74 | 60 |
| ENST00000614519 | A0A087WZZ6* | 53 | 47 |
| ENST00000462215 | A0A087WWM2* | 52 | 48 |
| ENST00000485118 | A0A087WTR1* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 121 amino-acid changes on canonical ENST00000337604 · 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 MUC1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MUC1 – 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 |
|---|---|---|
| T-Lymphoblastic Leukemia | 4/40 10% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Cervical Carcinoma | 0/35 0% | 7/422 2% |
| Endometrial Carcinoma | 2/42 5% | 7/612 1% |
| Melanoma | 0/210 0% | 28/1899 1% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 14/1390 1% |
| Colorectal Carcinoma | 7/143 5% | 22/3239 1% |
| Plasma Cell Myeloma | 1/44 2% | 2/305 1% |
| Bladder Carcinoma | 1/58 2% | 7/956 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Gastric Carcinoma | 0/74 0% | 14/1809 1% |
| Glioma | 0/52 0% | 13/2127 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 9/1592 1% |
| Other Sarcomas | 2/69 3% | 2/699 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Hepatocellular Carcinoma | 1/46 2% | 10/2210 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 10/2550 0% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Pancreatic Carcinoma | 0/89 0% | 6/1611 0% |
| Esophageal Carcinoma | 1/23 4% | 1/769 0% |
| Other Solid Cancers | 0/94 0% | 4/1515 0% |
| Breast Carcinoma | 0/144 0% | 8/3264 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Head and Neck Carcinoma | 1/85 1% | 2/1574 0% |
| Ovarian Carcinoma | 0/109 0% | 2/998 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 3/2534 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Kidney Carcinoma | 0/85 0% | 2/1862 0% |
Mutation Distribution
Where MUC1 is mutated · all tissues, split by cell line vs tissue
How many mutations in MUC1 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 1,904 mutations in MUC1
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 |
|---|