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 | 250 | 57 | 189 |
| Samples | 244 | 53 | 187 |
| Peptides | 191 | 41 | 152 |
Function
F12 · Coagulation factor XII
This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
2 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 |
|---|---|---|---|
| ENST00000253496 | P00748 | 249 | 190 |
| ENST00000696201 | A0A8Q3WL25* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 190 amino-acid changes on canonical ENST00000253496 · 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 F12 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in F12 – 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 | 9/40 22% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Bladder Carcinoma | 3/58 5% | 9/956 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 19/1592 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Gastric Carcinoma | 3/74 4% | 16/1809 1% |
| Melanoma | 4/210 2% | 16/1899 1% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 10/1390 1% |
| Endometrial Carcinoma | 1/42 2% | 5/612 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Colorectal Carcinoma | 7/143 5% | 22/3239 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Other Solid Cancers | 0/94 0% | 11/1515 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Head and Neck Carcinoma | 3/85 4% | 7/1574 0% |
| Kidney Carcinoma | 1/85 1% | 10/1862 1% |
| Non-Cancerous | 1/104 1% | 4/830 0% |
| Other Sarcomas | 0/69 0% | 4/699 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 9/2550 0% |
| Glioma | 1/52 2% | 6/2127 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Prostate Carcinoma | 2/13 15% | 4/2105 0% |
| Hepatocellular Carcinoma | 0/46 0% | 6/2210 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Pancreatic Carcinoma | 0/89 0% | 4/1611 0% |
Mutation Distribution
Where F12 is mutated · all tissues, split by cell line vs tissue
How many mutations in F12 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 250 mutations in F12
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 |
|---|