F5

Coagulation factor V P12259 FA5_HUMAN
Protein Coding Chr 1 1q24.2 Swiss-Prot reviewed Entrez 2153
Mutations
3,227
CL 428 · Tissue 2,771
Samples
1,352
CL 251 · Tissue 1,089
Peptides
1,088
unique mutant peptides
Transcripts
2
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

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.

TotalCell lineTissue
Mutations3,2274282,771
Samples1,3522511,089
Peptides1,088178933

Function

F5 · Coagulation factor V

This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008].

Isoforms & Proteins

2 transcripts · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

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.

TranscriptUniProtMutationsPeptides
ENST00000367797 P12259 1,704 1,081
ENST00000367796 A0A0A0MRJ7* 1,523 1,030

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1q24.2
Entrez ID
Aliases
FVLPCCFRPRGL1THPH2fV

Recurrent Mutations

All 1082 amino-acid changes on canonical ENST00000367797 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

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 F5 · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in F5 – 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 typeCell linesTissue samples
T-Lymphoblastic Leukemia
4/40 10%
0/0 0%
Endometrial Carcinoma
13/42 31%
49/612 8%
Melanoma
30/210 14%
157/1899 8%
Oral Cavity Carcinoma
4/54 7%
0/0 0%
Non-Small Cell Lung Carcinoma
40/304 13%
81/1390 6%
Other Solid Cancers
9/94 10%
95/1515 6%
Squamous Cell Lung Carcinoma
3/57 5%
43/810 5%
Gastrointestinal Stromal Tumour
0/0 0%
7/133 5%
Chordoma
0/7 0%
1/13 8%
Small Cell Lung Carcinoma
2/9 22%
34/752 5%
Bladder Carcinoma
2/58 3%
44/956 5%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Gastric Carcinoma
7/74 9%
67/1809 4%
Colorectal Carcinoma
26/143 18%
93/3239 3%
Rhabdomyosarcoma
4/33 12%
3/171 2%
Neuroendocrine Tumour
17/154 11%
7/577 1%
Germ Cell Tumour
2/25 8%
4/169 2%
Cervical Carcinoma
5/35 14%
8/422 2%
Head and Neck Carcinoma
3/85 4%
44/1574 3%
Esophageal Carcinoma
0/23 0%
19/769 2%
Burkitts Lymphoma
5/32 16%
0/196 0%
Other Sarcomas
2/69 3%
14/699 2%
Hepatocellular Carcinoma
2/46 4%
44/2210 2%
Plasma Cell Myeloma
5/44 11%
2/305 1%
Breast Carcinoma
12/144 8%
52/3264 2%
Esophageal Squamous Cell Carcinoma
7/51 14%
41/2550 2%
Glioma
3/52 6%
36/2127 2%
Retinoblastoma
0/27 0%
1/30 3%
Ovarian Carcinoma
6/109 6%
13/998 1%
Thyroid Gland Carcinoma
8/45 18%
19/1592 1%

Mutation Distribution

Where F5 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in F5 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

GTEx Portal ↗
About the expression data
GTEx Expression

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 3,227 mutations in F5

About the mutation list
Mutations

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.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide