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 | 1,309 | 197 | 1,090 |
| Samples | 593 | 122 | 462 |
| Peptides | 559 | 97 | 465 |
Function
MSH6 · MutS homolog 6
This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000234420 | P52701 | 726 | 517 |
| ENST00000540021 | P52701-3 | 582 | 426 |
| ENST00000652107 | A0A494C0M1* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 517 amino-acid changes on canonical ENST00000234420 · 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 MSH6 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MSH6 – 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 |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 23/133 17% |
| T-Lymphoblastic Leukemia | 6/40 15% | 0/0 0% |
| Endometrial Carcinoma | 12/42 29% | 32/612 5% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Melanoma | 12/210 6% | 47/1899 2% |
| Burkitts Lymphoma | 3/32 9% | 3/196 2% |
| Colorectal Carcinoma | 14/143 10% | 73/3239 2% |
| Unknown | 1/10 10% | 0/29 0% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Hodgkins Lymphoma | 1/16 6% | 2/122 2% |
| Neuroendocrine Tumour | 7/154 5% | 7/577 1% |
| Osteosarcoma | 3/45 7% | 1/166 1% |
| Gastric Carcinoma | 3/74 4% | 32/1809 2% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 24/1390 2% |
| Plasma Cell Myeloma | 6/44 14% | 0/305 0% |
| Bladder Carcinoma | 0/58 0% | 16/956 2% |
| Cervical Carcinoma | 1/35 3% | 6/422 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 10/752 1% |
| Biliary Tract Carcinoma | 3/54 6% | 10/950 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 10/810 1% |
| Glioma | 1/52 2% | 24/2127 1% |
| Esophageal Carcinoma | 2/23 9% | 7/769 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Other Solid Cancers | 3/94 3% | 14/1515 1% |
| Hepatocellular Carcinoma | 0/46 0% | 24/2210 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Rhabdomyosarcoma | 0/33 0% | 2/171 1% |
| Other Sarcomas | 2/69 3% | 4/699 1% |
| Ovarian Carcinoma | 4/109 4% | 4/998 0% |
| Medulloblastoma | 0/0 0% | 3/450 1% |
Mutation Distribution
Where MSH6 is mutated · all tissues, split by cell line vs tissue
How many mutations in MSH6 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 1,309 mutations in MSH6
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 |
|---|