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 | 702 | 50 | 636 |
| Samples | 184 | 28 | 153 |
| Peptides | 135 | 20 | 119 |
Function
POMC · Proopiomelanocortin
This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the preproprotein and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. The antimicrobial melanotropin alpha peptide exhibits antibacterial and antifungal activity. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jan 2016].
Isoforms & Proteins
4 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 135 amino-acid changes on canonical ENST00000395826 · 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 POMC · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in POMC – 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 | 4/40 10% | 0/0 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 9/612 1% |
| Gastric Carcinoma | 1/74 1% | 22/1809 1% |
| Melanoma | 2/210 1% | 18/1899 1% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 4/810 0% |
| Other Sarcomas | 2/69 3% | 5/699 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Hepatocellular Carcinoma | 2/46 4% | 11/2210 0% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Other Solid Cancers | 0/94 0% | 9/1515 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 5/1390 0% |
| Colorectal Carcinoma | 1/143 1% | 16/3239 0% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 5/1592 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Ovarian Carcinoma | 1/109 1% | 2/998 0% |
| Prostate Carcinoma | 0/13 0% | 5/2105 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 5/2550 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Pancreatic Carcinoma | 2/89 2% | 1/1611 0% |
| Neuroendocrine Tumour | 0/154 0% | 1/577 0% |
| Neuroblastoma | 0/87 0% | 2/1331 0% |
| Kidney Carcinoma | 0/85 0% | 2/1862 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 2/2534 0% |
Mutation Distribution
Where POMC is mutated · all tissues, split by cell line vs tissue
How many mutations in POMC 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 702 mutations in POMC
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 |
|---|