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 | 117 | 29 | 88 |
| Samples | 114 | 29 | 85 |
| Peptides | 78 | 18 | 61 |
Function
EPO · Erythropoietin
This gene encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The encoded protein is mainly synthesized in the kidney, secreted into the blood plasma, and binds to the erythropoietin receptor to promote red blood cell production, or erythropoiesis, in the bone marrow. Expression of this gene is upregulated under hypoxic conditions, in turn leading to increased erythropoiesis and enhanced oxygen-carrying capacity of the blood. Expression of this gene has also been observed in brain and in the eye, and elevated expression levels have been observed in diabetic retinopathy and ocular hypertension. Recombinant forms of the encoded protein exhibit neuroprotective activity against a variety of potential brain injuries, as well as antiapoptotic functions in several tissue types, and have been used in the treatment of anemia and to enhance the efficacy of cancer therapies. [provided by RefSeq, Aug 2017].
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 |
|---|---|---|---|
| ENST00000252723 | P01588 | 117 | 78 |
Gene Properties
Recurrent Mutations
All 78 amino-acid changes on canonical ENST00000252723 · 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 EPO · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in EPO – 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 |
|---|---|---|
| Endometrial Carcinoma | 2/42 5% | 5/612 1% |
| Melanoma | 0/210 0% | 16/1899 1% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 3/1390 0% |
| Other Solid Cancers | 1/94 1% | 8/1515 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 8/1592 0% |
| Gastric Carcinoma | 1/74 1% | 7/1809 0% |
| Colorectal Carcinoma | 6/143 4% | 8/3239 0% |
| Neuroendocrine Tumour | 0/154 0% | 3/577 1% |
| Meningioma | 0/3 0% | 1/252 0% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Prostate Carcinoma | 2/13 15% | 2/2105 0% |
| Head and Neck Carcinoma | 1/85 1% | 2/1574 0% |
| Ovarian Carcinoma | 0/109 0% | 2/998 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 1/2550 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 1/2640 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Glioma | 0/52 0% | 2/2127 0% |
| Breast Carcinoma | 1/144 1% | 2/3264 0% |
| B-Cell Non-Hodgkins Lymphoma | 1/88 1% | 1/2534 0% |
| Pancreatic Carcinoma | 1/89 1% | 0/1611 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
| Hepatocellular Carcinoma | 0/46 0% | 1/2210 0% |
Mutation Distribution
Where EPO is mutated · all tissues, split by cell line vs tissue
How many mutations in EPO 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 117 mutations in EPO
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 |
|---|