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 | 314 | 64 | 247 |
| Samples | 300 | 59 | 238 |
| Peptides | 217 | 42 | 180 |
Function
GP5 · Glycoprotein V platelet
Human platelet glycoprotein V (GP5) is a part of the Ib-V-IX system of surface glycoproteins that constitute the receptor for von Willebrand factor (VWF; MIM 613160) and mediate the adhesion of platelets to injured vascular surfaces in the arterial circulation, a critical initiating event in hemostasis. The main portion of the receptor is a heterodimer composed of 2 polypeptide chains, an alpha chain (GP1BA; MIM 606672) and a beta chain (GP1BB; MIM 138720), that are linked by disulfide bonds. The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX (GP9; MIM 173515) and GP5. Mutations in GP1BA, GP1BB, and GP9 have been shown to cause Bernard-Soulier syndrome (MIM 231200), a bleeding disorder (review by Lopez et al., 1998 [PubMed 9616133]).[supplied by OMIM, Nov 2010].
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.
Gene Properties
Recurrent Mutations
All 202 amino-acid changes on canonical ENST00000401815 · 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 GP5 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GP5 – 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-Cell Non-Hodgkins Lymphoma | 3/26 12% | 0/0 0% |
| Chordoma | 0/7 0% | 1/13 8% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Endometrial Carcinoma | 3/42 7% | 12/612 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Colorectal Carcinoma | 5/143 4% | 48/3239 1% |
| Melanoma | 3/210 1% | 30/1899 2% |
| Gastric Carcinoma | 4/74 5% | 25/1809 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 10/810 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 25/2550 1% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 9/1390 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Ovarian Carcinoma | 4/109 4% | 5/998 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Bladder Carcinoma | 3/58 5% | 4/956 0% |
| Other Solid Cancers | 0/94 0% | 11/1515 1% |
| Neuroendocrine Tumour | 2/154 1% | 3/577 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Prostate Carcinoma | 0/13 0% | 11/2105 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Head and Neck Carcinoma | 2/85 2% | 5/1574 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Hepatocellular Carcinoma | 0/46 0% | 9/2210 0% |
| Neuroblastoma | 4/87 5% | 1/1331 0% |
| Non-Cancerous | 1/104 1% | 2/830 0% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 4/2534 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
Mutation Distribution
Where GP5 is mutated · all tissues, split by cell line vs tissue
How many mutations in GP5 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 314 mutations in GP5
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 |
|---|