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 | 293 | 52 | 233 |
| Samples | 265 | 47 | 211 |
| Peptides | 190 | 34 | 161 |
Function
GP1BA · Glycoprotein Ib platelet subunit alpha
Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013].
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 |
|---|---|---|---|
| ENST00000329125 | P07359 | 293 | 190 |
Gene Properties
Recurrent Mutations
All 194 amino-acid changes on canonical ENST00000329125 · 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 GP1BA · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GP1BA – 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 | 3/40 8% | 0/0 0% |
| Rhabdomyosarcoma | 0/33 0% | 8/171 5% |
| Endometrial Carcinoma | 5/42 12% | 19/612 3% |
| Unknown | 0/10 0% | 1/29 3% |
| Chondrosarcoma | 2/14 14% | 0/75 0% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Germ Cell Tumour | 3/25 12% | 0/169 0% |
| Gastric Carcinoma | 2/74 3% | 25/1809 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Bladder Carcinoma | 1/58 2% | 9/956 1% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 9/1390 1% |
| Colorectal Carcinoma | 7/143 5% | 23/3239 1% |
| Melanoma | 0/210 0% | 18/1899 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 12/1592 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Head and Neck Carcinoma | 1/85 1% | 10/1574 1% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
| Other Solid Cancers | 0/94 0% | 10/1515 1% |
| Glioma | 0/52 0% | 12/2127 1% |
| Non-Cancerous | 0/104 0% | 5/830 1% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 10/2550 0% |
| Neuroendocrine Tumour | 1/154 1% | 2/577 0% |
| Biliary Tract Carcinoma | 2/54 4% | 2/950 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 3/810 0% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 5/2534 0% |
| Hepatocellular Carcinoma | 0/46 0% | 7/2210 0% |
| Ovarian Carcinoma | 1/109 1% | 2/998 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Prostate Carcinoma | 2/13 15% | 3/2105 0% |
Mutation Distribution
Where GP1BA is mutated · all tissues, split by cell line vs tissue
How many mutations in GP1BA 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 293 mutations in GP1BA
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 |
|---|