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 | 451 | 80 | 366 |
| Samples | 221 | 46 | 173 |
| Peptides | 168 | 32 | 140 |
Function
MUS81 · MUS81 structure-specific endonuclease subunit
This gene encodes a structure-specific endonuclease which belongs to the XPF/MUS81 endonuclease family and plays a critical role in the resolution of recombination intermediates during DNA repair after inter-strand cross-links, replication fork collapse, and DNA double-strand breaks. The encoded protein associates with one of two closely related essential meiotic endonuclease proteins (EME1 or EME2) to form a complex that processes DNA secondary structures. It contains an N-terminal DEAH helicase domain, an excision repair cross complementation group 4 (ERCC4) endonuclease domain, and two tandem C-terminal helix-hairpin-helix domains. Mice with a homozygous knockout of the orthologous gene have significant meiotic defects including the failure to repair a subset of DNA double strand breaks. [provided by RefSeq, Jun 2017].
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.
Gene Properties
Recurrent Mutations
All 167 amino-acid changes on canonical ENST00000308110 · 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 MUS81 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MUS81 – 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 | 5/40 12% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 10/612 2% |
| Bladder Carcinoma | 7/58 12% | 6/956 1% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Melanoma | 5/210 2% | 18/1899 1% |
| Colorectal Carcinoma | 9/143 6% | 24/3239 1% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 10/1390 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Neuroendocrine Tumour | 4/154 3% | 2/577 0% |
| Gastric Carcinoma | 0/74 0% | 15/1809 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 9/1592 1% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Head and Neck Carcinoma | 0/85 0% | 8/1574 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Glioma | 0/52 0% | 10/2127 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 9/2550 0% |
| Kidney Carcinoma | 0/85 0% | 5/1862 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Other Solid Cancers | 0/94 0% | 4/1515 0% |
| Hepatocellular Carcinoma | 1/46 2% | 4/2210 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 3/2534 0% |
| Breast Carcinoma | 0/144 0% | 5/3264 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
| Neuroblastoma | 1/87 1% | 1/1331 0% |
Mutation Distribution
Where MUS81 is mutated · all tissues, split by cell line vs tissue
How many mutations in MUS81 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 451 mutations in MUS81
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 |
|---|