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 | 244 | 38 | 203 |
| Samples | 231 | 38 | 190 |
| Peptides | 138 | 20 | 121 |
Function
GZMA · Granzyme A
Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here is a T cell- and natural killer cell-specific serine protease that may function as a common component necessary for lysis of target cells by cytotoxic T lymphocytes and natural killer cells. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000274306 | P12544 | 244 | 138 |
Gene Properties
Recurrent Mutations
All 138 amino-acid changes on canonical ENST00000274306 · 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 GZMA · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GZMA – 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% | 5/133 4% |
| Melanoma | 5/210 2% | 43/1899 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Endometrial Carcinoma | 0/42 0% | 11/612 2% |
| Other Solid Cancers | 0/94 0% | 21/1515 1% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 11/1390 1% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 5/810 1% |
| Neuroendocrine Tumour | 5/154 3% | 2/577 0% |
| Bladder Carcinoma | 0/58 0% | 7/956 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 18/2550 1% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Colorectal Carcinoma | 4/143 3% | 16/3239 0% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Glioma | 0/52 0% | 7/2127 0% |
| Gastric Carcinoma | 0/74 0% | 6/1809 0% |
| Breast Carcinoma | 0/144 0% | 11/3264 0% |
| Hepatocellular Carcinoma | 0/46 0% | 6/2210 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Ovarian Carcinoma | 0/109 0% | 2/998 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| Pancreatic Carcinoma | 0/89 0% | 2/1611 0% |
| Head and Neck Carcinoma | 0/85 0% | 2/1574 0% |
| Prostate Carcinoma | 1/13 8% | 1/2105 0% |
| Neuroblastoma | 1/87 1% | 0/1331 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
Mutation Distribution
Where GZMA is mutated · all tissues, split by cell line vs tissue
How many mutations in GZMA 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 53 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 244 mutations in GZMA
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 |
|---|