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 | 1,590 | 316 | 1,231 |
| Samples | 1,140 | 231 | 885 |
| Peptides | 1,016 | 171 | 850 |
Function
F8 · Coagulation factor VIII
This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008].
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000360256 | P00451 | 1,380 | 1,010 |
| ENST00000330287 | P00451-2 | 105 | 81 |
| ENST00000644698 | A0A2R8Y707* | 105 | 81 |
Gene Properties
Recurrent Mutations
All 1010 amino-acid changes on canonical ENST00000360256 · 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 F8 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in F8 – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 6/54 11% | 0/0 0% |
| Endometrial Carcinoma | 11/42 26% | 56/612 9% |
| Glioblastoma | 9/98 9% | 0/0 0% |
| Melanoma | 26/210 12% | 165/1899 9% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 23/304 8% | 65/1390 5% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Other Solid Cancers | 9/94 10% | 64/1515 4% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Colorectal Carcinoma | 30/143 21% | 108/3239 3% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Cervical Carcinoma | 4/35 11% | 12/422 3% |
| Gastric Carcinoma | 5/74 7% | 60/1809 3% |
| Bladder Carcinoma | 1/58 2% | 34/956 4% |
| Small Cell Lung Carcinoma | 2/9 22% | 21/752 3% |
| Hodgkins Lymphoma | 4/16 25% | 0/122 0% |
| Ovarian Carcinoma | 12/109 11% | 19/998 2% |
| Neuroendocrine Tumour | 15/154 10% | 4/577 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 19/810 2% |
| Osteosarcoma | 4/45 9% | 0/166 0% |
| Head and Neck Carcinoma | 9/85 11% | 22/1574 1% |
| Burkitts Lymphoma | 4/32 12% | 0/196 0% |
| Plasma Cell Myeloma | 0/44 0% | 6/305 2% |
| Thyroid Gland Carcinoma | 10/45 22% | 18/1592 1% |
| Breast Carcinoma | 6/144 4% | 49/3264 2% |
| Other Sarcomas | 2/69 3% | 10/699 1% |
| Germ Cell Tumour | 1/25 4% | 2/169 1% |
| Ewings Sarcoma | 4/63 6% | 1/262 0% |
| Hepatocellular Carcinoma | 2/46 4% | 32/2210 1% |
| Pancreatic Carcinoma | 2/89 2% | 20/1611 1% |
Mutation Distribution
Where F8 is mutated · all tissues, split by cell line vs tissue
How many mutations in F8 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 1,590 mutations in F8
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 |
|---|