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 | 5,979 | 458 | 5,494 |
| Samples | 704 | 101 | 599 |
| Peptides | 524 | 71 | 481 |
Function
TP63 · Tumor protein p63
This gene encodes a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an oligomerization domain. Alternative splicing of this gene and the use of alternative promoters results in multiple transcript variants encoding different isoforms that vary in their functional properties. These isoforms function during skin development and maintenance, adult stem/progenitor cell regulation, heart development and premature aging. Some isoforms have been found to protect the germline by eliminating oocytes or testicular germ cells that have suffered DNA damage. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. [provided by RefSeq, Aug 2016].
Isoforms & Proteins
11 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 |
|---|---|---|---|
| ENST00000264731 | Q9H3D4 | 745 | 443 |
| ENST00000440651 | Q9H3D4-11 | 675 | 426 |
| ENST00000354600 | Q9H3D4-2 | 619 | 383 |
| ENST00000456148 | Q9H3D4-12 | 605 | 378 |
| ENST00000392460 | Q9H3D4-3 | 542 | 346 |
| ENST00000320472 | Q9H3D4-7 | 505 | 317 |
| ENST00000449992 | Q9H3D4-10 | 499 | 310 |
| ENST00000418709 | Q9H3D4-5 | 476 | 294 |
| ENST00000392463 | Q9H3D4-4 | 472 | 298 |
| ENST00000392461 | Q9H3D4-8 | 435 | 269 |
| ENST00000437221 | Q9H3D4-6 | 406 | 246 |
Gene Properties
Recurrent Mutations
All 442 amino-acid changes on canonical ENST00000264731 · 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 TP63 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in TP63 – 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 | 7/40 18% | 0/0 0% |
| Melanoma | 18/210 9% | 181/1899 10% |
| Oral Cavity Carcinoma | 4/54 7% | 0/0 0% |
| Endometrial Carcinoma | 8/42 19% | 33/612 5% |
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| Bladder Carcinoma | 3/58 5% | 28/956 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Cervical Carcinoma | 2/35 6% | 11/422 3% |
| Hodgkins Lymphoma | 1/16 6% | 2/122 2% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 29/1390 2% |
| Colorectal Carcinoma | 13/143 9% | 55/3239 2% |
| Gastric Carcinoma | 4/74 5% | 33/1809 2% |
| Other Solid Cancers | 2/94 2% | 27/1515 2% |
| Germ Cell Tumour | 2/25 8% | 1/169 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 13/810 2% |
| Head and Neck Carcinoma | 1/85 1% | 23/1574 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 8/752 1% |
| Other Sarcomas | 3/69 4% | 5/699 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 24/2550 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Glioma | 0/52 0% | 19/2127 1% |
| Biliary Tract Carcinoma | 1/54 2% | 7/950 1% |
| Non-Cancerous | 0/104 0% | 7/830 1% |
| Medulloblastoma | 0/0 0% | 3/450 1% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 17/2534 1% |
| Pancreatic Carcinoma | 1/89 1% | 10/1611 1% |
| Hepatocellular Carcinoma | 0/46 0% | 13/2210 1% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Ovarian Carcinoma | 2/109 2% | 4/998 0% |
Mutation Distribution
Where TP63 is mutated · all tissues, split by cell line vs tissue
How many mutations in TP63 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 5,979 mutations in TP63
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 |
|---|