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 | 1,038 | 131 | 887 |
| Samples | 507 | 83 | 413 |
| Peptides | 435 | 58 | 369 |
Function
MMS22L · MMS22 like, DNA repair protein
The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the histone-associated protein NFKBIL2 to help regulate the chromatin state at stalled replication forks. Finally, this gene appears to be overexpressed in most lung and esophageal cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017].
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.
Gene Properties
Recurrent Mutations
All 412 amino-acid changes on canonical ENST00000275053 · 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 MMS22L · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MMS22L – 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% |
| Endometrial Carcinoma | 9/42 21% | 33/612 5% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Non-Small Cell Lung Carcinoma | 17/304 6% | 31/1390 2% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 22/810 3% |
| Melanoma | 5/210 2% | 49/1899 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 15/752 2% |
| Colorectal Carcinoma | 7/143 5% | 57/3239 2% |
| Gastric Carcinoma | 2/74 3% | 31/1809 2% |
| Bladder Carcinoma | 0/58 0% | 17/956 2% |
| Cervical Carcinoma | 0/35 0% | 6/422 1% |
| Neuroendocrine Tumour | 3/154 2% | 5/577 1% |
| Other Solid Cancers | 1/94 1% | 16/1515 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 14/1592 1% |
| Mesothelioma | 1/62 2% | 1/165 1% |
| Hepatocellular Carcinoma | 0/46 0% | 19/2210 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 19/2550 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Head and Neck Carcinoma | 2/85 2% | 9/1574 1% |
| Other Sarcomas | 2/69 3% | 3/699 0% |
| Pancreatic Carcinoma | 4/89 4% | 6/1611 0% |
| Kidney Carcinoma | 2/85 2% | 9/1862 0% |
| Ovarian Carcinoma | 2/109 2% | 4/998 0% |
| Breast Carcinoma | 5/144 3% | 13/3264 0% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
Mutation Distribution
Where MMS22L is mutated · all tissues, split by cell line vs tissue
How many mutations in MMS22L 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 1,038 mutations in MMS22L
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 |
|---|