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 | 717 | 110 | 595 |
| Samples | 654 | 102 | 542 |
| Peptides | 431 | 63 | 381 |
Function
F13A1 · Coagulation factor XIII A chain
This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [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 |
|---|---|---|---|
| ENST00000264870 | P00488 | 717 | 431 |
Gene Properties
Recurrent Mutations
All 431 amino-acid changes on canonical ENST00000264870 · 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 F13A1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in F13A1 – 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 | 4/40 10% | 0/0 0% |
| Melanoma | 12/210 6% | 99/1899 5% |
| Non-Small Cell Lung Carcinoma | 22/304 7% | 47/1390 3% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 19/612 3% |
| Other Solid Cancers | 3/94 3% | 49/1515 3% |
| Gastric Carcinoma | 1/74 1% | 46/1809 3% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 20/810 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 17/752 2% |
| Colorectal Carcinoma | 12/143 8% | 62/3239 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Esophageal Carcinoma | 0/23 0% | 13/769 2% |
| Neuroendocrine Tumour | 5/154 3% | 7/577 1% |
| Cervical Carcinoma | 0/35 0% | 7/422 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Bladder Carcinoma | 0/58 0% | 14/956 1% |
| Mesothelioma | 3/62 5% | 0/165 0% |
| Other Sarcomas | 6/69 9% | 4/699 1% |
| Non-Cancerous | 2/104 2% | 9/830 1% |
| Glioma | 2/52 4% | 20/2127 1% |
| Head and Neck Carcinoma | 3/85 4% | 13/1574 1% |
| Osteosarcoma | 1/45 2% | 1/166 1% |
| Hepatocellular Carcinoma | 2/46 4% | 19/2210 1% |
| Biliary Tract Carcinoma | 0/54 0% | 8/950 1% |
| Ovarian Carcinoma | 4/109 4% | 3/998 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 16/2550 1% |
| Breast Carcinoma | 1/144 1% | 14/3264 0% |
| Pancreatic Carcinoma | 0/89 0% | 7/1611 0% |
Mutation Distribution
Where F13A1 is mutated · all tissues, split by cell line vs tissue
How many mutations in F13A1 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 717 mutations in F13A1
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 |
|---|