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 | 1,206 | 249 | 943 |
| Samples | 324 | 93 | 227 |
| Peptides | 293 | 73 | 229 |
Function
MSH5 · MutS homolog 5
This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011].
Isoforms & Proteins
4 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 256 amino-acid changes on canonical ENST00000375750 · 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 MSH5 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MSH5 – 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 | 12/40 30% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 25/612 4% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Melanoma | 7/210 3% | 36/1899 2% |
| Adrenocortical Carcinoma | 0/3 0% | 2/112 2% |
| Osteosarcoma | 2/45 4% | 1/166 1% |
| Colorectal Carcinoma | 14/143 10% | 31/3239 1% |
| Thyroid Gland Carcinoma | 3/45 7% | 15/1592 1% |
| Gastric Carcinoma | 2/74 3% | 16/1809 1% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 9/1390 1% |
| Other Solid Cancers | 2/94 2% | 11/1515 1% |
| Bladder Carcinoma | 0/58 0% | 8/956 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Ovarian Carcinoma | 4/109 4% | 3/998 0% |
| Ewings Sarcoma | 1/63 2% | 1/262 0% |
| Biliary Tract Carcinoma | 3/54 6% | 3/950 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 5/810 1% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Breast Carcinoma | 2/144 1% | 17/3264 1% |
| Neuroendocrine Tumour | 4/154 3% | 0/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Esophageal Carcinoma | 1/23 4% | 2/769 0% |
Mutation Distribution
Where MSH5 is mutated · all tissues, split by cell line vs tissue
How many mutations in MSH5 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 1,206 mutations in MSH5
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 |
|---|