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 | 1,507 | 143 | 1,349 |
| Samples | 431 | 53 | 372 |
| Peptides | 316 | 43 | 274 |
Function
PMS2 · PMS1 homolog 2, mismatch repair system component
The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016].
Isoforms & Proteins
5 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 |
|---|---|---|---|
| ENST00000265849 | P54278 | 527 | 305 |
| ENST00000642292 | A0A2R8Y6S3* | 379 | 218 |
| ENST00000642456 | A0A2R8Y6S3* | 379 | 218 |
| ENST00000382321 | P54278-2 | 220 | 142 |
| ENST00000644110 | A0A8V8TNV6* | 2 | 1 |
Gene Properties
Recurrent Mutations
All 305 amino-acid changes on canonical ENST00000265849 · 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 PMS2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PMS2 – 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% | 45/133 34% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 19/612 3% |
| Melanoma | 5/210 2% | 46/1899 2% |
| Neuroendocrine Tumour | 5/154 3% | 11/577 2% |
| Colorectal Carcinoma | 8/143 6% | 55/3239 2% |
| Bladder Carcinoma | 1/58 2% | 17/956 2% |
| Rhabdomyosarcoma | 0/33 0% | 3/171 2% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 16/1390 1% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 7/810 1% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Other Solid Cancers | 0/94 0% | 16/1515 1% |
| Small Cell Lung Carcinoma | 2/9 22% | 5/752 1% |
| Hepatocellular Carcinoma | 0/46 0% | 20/2210 1% |
| Gastric Carcinoma | 0/74 0% | 15/1809 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 13/1592 1% |
| Esophageal Carcinoma | 1/23 4% | 5/769 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Glioma | 0/52 0% | 13/2127 1% |
| Head and Neck Carcinoma | 2/85 2% | 7/1574 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Breast Carcinoma | 0/144 0% | 17/3264 1% |
| Biliary Tract Carcinoma | 1/54 2% | 4/950 0% |
| Other Sarcomas | 1/69 1% | 2/699 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 9/2550 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Kidney Carcinoma | 0/85 0% | 6/1862 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 5/2534 0% |
Mutation Distribution
Where PMS2 is mutated · all tissues, split by cell line vs tissue
How many mutations in PMS2 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 1,507 mutations in PMS2
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 |
|---|