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 | 245 | 47 | 177 |
| Samples | 197 | 43 | 144 |
| Peptides | 160 | 33 | 117 |
Function
POR · Cytochrome p450 oxidoreductase
This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing enzymes such as aromatase, 21-hydroxylase, and 17 alpha-hydroxylase. [provided by RefSeq, Aug 2020].
Isoforms & Proteins
5 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000439269 | E7EMD0* | 158 | 118 |
| ENST00000461988 | P16435 | 51 | 38 |
| ENST00000394893 | A0A8V8NE24* | 17 | 11 |
| ENST00000706545 | A0A9L9PY49* | 14 | 14 |
| ENST00000706544 | A0A9L9PXN4* | 5 | 5 |
Gene Properties
Recurrent Mutations
All 38 amino-acid changes on canonical ENST00000461988 · 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 POR · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in POR – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Burkitts Lymphoma | 2/32 6% | 1/196 1% |
| Endometrial Carcinoma | 2/42 5% | 6/612 1% |
| Cervical Carcinoma | 2/35 6% | 3/422 1% |
| Colorectal Carcinoma | 9/143 6% | 27/3239 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Other Solid Cancers | 2/94 2% | 12/1515 1% |
| Non-Cancerous | 0/104 0% | 8/830 1% |
| Melanoma | 4/210 2% | 10/1899 1% |
| Hepatocellular Carcinoma | 3/46 7% | 11/2210 0% |
| Bladder Carcinoma | 1/58 2% | 5/956 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 8/1592 0% |
| Gastric Carcinoma | 2/74 3% | 8/1809 0% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 7/1390 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Head and Neck Carcinoma | 0/85 0% | 6/1574 0% |
| Ovarian Carcinoma | 2/109 2% | 2/998 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 3/810 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Kidney Carcinoma | 0/85 0% | 5/1862 0% |
| Pancreatic Carcinoma | 1/89 1% | 3/1611 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 4/2550 0% |
| Breast Carcinoma | 1/144 1% | 4/3264 0% |
| Neuroblastoma | 0/87 0% | 2/1331 0% |
| Glioma | 0/52 0% | 3/2127 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 1/2640 0% |
Mutation Distribution
Where POR is mutated · all tissues, split by cell line vs tissue
How many mutations in POR 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 245 mutations in POR
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 |
|---|