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 | 256 | 33 | 223 |
| Samples | 237 | 31 | 206 |
| Peptides | 198 | 29 | 174 |
Function
CYP3A7-CYP3A51P · CYP3A7-CYP3A51P readthrough
This locus represents readthrough transcription between the neighboring CYP3A7 (cytochrome P450, family 3, subfamily A, polypeptide 7) and CYP3A51P (cytochrome P450, family 3, subfamily A, polypeptide 51, pseudogene) genes, which are members of the CYP3A gene cluster on chromosome 7. The downstream pseudogene is not known to be independently transcribed. The readthrough transcript includes CYP3A7 exons 1-13 and exons 2 and 13 of the pseudogene. It encodes a CYP3A isoform with a novel C-terminus. This isoform is only expressed in alleles containing a T nucleotide at the -6 position of a splice acceptor in the pseudogene, which enables correct splicing of the upstream CYP3A7 exons to the pseudogene exons. It should be noted that the reference genome sequence represents the CYP3A7_39256 T->A allele, and thus this haplotype is unlikely to produce the readthrough transcript. [provided by RefSeq, Jan 2015].
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 |
|---|---|---|---|
| ENST00000611620 | P24462-2 | 256 | 198 |
Gene Properties
Recurrent Mutations
All 198 amino-acid changes on canonical ENST00000611620 · 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 CYP3A7-CYP3A51P · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CYP3A7-CYP3A51P – 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 | 2/40 5% | 0/0 0% |
| Melanoma | 3/210 1% | 53/1899 3% |
| Endometrial Carcinoma | 0/42 0% | 16/612 3% |
| Other Solid Cancers | 2/94 2% | 17/1515 1% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Bladder Carcinoma | 0/58 0% | 11/956 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 11/1390 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 6/810 1% |
| Colorectal Carcinoma | 5/143 4% | 22/3239 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Other Sarcomas | 1/69 1% | 3/699 0% |
| Gastric Carcinoma | 1/74 1% | 8/1809 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 10/2550 0% |
| Glioma | 0/52 0% | 8/2127 0% |
| Breast Carcinoma | 0/144 0% | 12/3264 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Pancreatic Carcinoma | 1/89 1% | 2/1611 0% |
| Neuroblastoma | 0/87 0% | 2/1331 0% |
| Esophageal Carcinoma | 1/23 4% | 0/769 0% |
| Hepatocellular Carcinoma | 0/46 0% | 3/2210 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
| Head and Neck Carcinoma | 0/85 0% | 2/1574 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Prostate Carcinoma | 0/13 0% | 2/2105 0% |
Mutation Distribution
Where CYP3A7-CYP3A51P is mutated · all tissues, split by cell line vs tissue
How many mutations in CYP3A7-CYP3A51P 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 1 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 256 mutations in CYP3A7-CYP3A51P
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 |
|---|