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 | 39,044 | 3,836 | 34,912 |
| Samples | 2,652 | 410 | 2,216 |
| Peptides | 3,186 | 504 | 2,873 |
Function
PCDH15 · Protocadherin related 15
This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008].
Isoforms & Proteins
19 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 |
|---|---|---|---|
| ENST00000320301 | Q96QU1 | 3,353 | 2,062 |
| ENST00000395445 | Q96QU1-4 | 2,930 | 1,774 |
| ENST00000361849 | A2A3E7* | 2,618 | 1,711 |
| ENST00000373957 | A2A3D8* | 2,618 | 1,711 |
| ENST00000395430 | A2A3E6* | 2,615 | 1,708 |
| ENST00000395433 | A2A3E8* | 2,597 | 1,696 |
| ENST00000437009 | E7EM53* | 2,531 | 1,644 |
| ENST00000644397 | Q96QU1-7 | 2,469 | 1,529 |
| ENST00000616114 | Q96QU1-6 | 2,310 | 1,498 |
| ENST00000613657 | A0A087WZN9* | 2,297 | 1,501 |
| ENST00000621708 | A0A087X1T6* | 2,211 | 1,446 |
| ENST00000373965 | A9Z1W1* | 2,210 | 1,445 |
| ENST00000617271 | A0A087WTR6* | 2,025 | 1,310 |
| ENST00000409834 | B7ZBT8* | 1,522 | 981 |
| ENST00000373955 | Q96QU1-3 | 1,350 | 859 |
| ENST00000395446 | A2A3E4* | 1,271 | 845 |
| ENST00000395440 | A2A3E5* | 874 | 587 |
| ENST00000395442 | A2A3E1* | 749 | 513 |
| ENST00000495484 | A0A087WX70* | 494 | 338 |
Gene Properties
Recurrent Mutations
All 2062 amino-acid changes on canonical ENST00000320301 · 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 PCDH15 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PCDH15 – 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 | 9/40 22% | 0/0 0% |
| Melanoma | 38/210 18% | 360/1899 19% |
| Chronic Myelogenous Leukemia | 4/25 16% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 61/304 20% | 201/1390 14% |
| Squamous Cell Lung Carcinoma | 12/57 21% | 113/810 14% |
| Endometrial Carcinoma | 12/42 29% | 70/612 11% |
| Glioblastoma | 10/98 10% | 0/0 0% |
| Other Solid Cancers | 7/94 7% | 157/1515 10% |
| Oral Cavity Carcinoma | 5/54 9% | 0/0 0% |
| Gastric Carcinoma | 15/74 20% | 157/1809 9% |
| Small Cell Lung Carcinoma | 3/9 33% | 65/752 9% |
| Colorectal Carcinoma | 48/143 34% | 225/3239 7% |
| Acute Myeloid Leukemia | 7/90 8% | 0/0 0% |
| Neuroendocrine Tumour | 31/154 20% | 22/577 4% |
| Esophageal Carcinoma | 2/23 9% | 51/769 7% |
| Esophageal Squamous Cell Carcinoma | 7/51 14% | 148/2550 6% |
| Head and Neck Carcinoma | 11/85 13% | 79/1574 5% |
| Thymic Epithelial Tumor | 0/0 0% | 2/39 5% |
| Cervical Carcinoma | 4/35 11% | 18/422 4% |
| Rhabdomyosarcoma | 2/33 6% | 7/171 4% |
| Hodgkins Lymphoma | 3/16 19% | 3/122 2% |
| Bladder Carcinoma | 0/58 0% | 44/956 5% |
| Hepatocellular Carcinoma | 7/46 15% | 83/2210 4% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Other Sarcomas | 6/69 9% | 22/699 3% |
| Germ Cell Tumour | 5/25 20% | 2/169 1% |
| Biliary Tract Carcinoma | 3/54 6% | 31/950 3% |
| Pancreatic Carcinoma | 10/89 11% | 47/1611 3% |
| Ovarian Carcinoma | 4/109 4% | 30/998 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
Mutation Distribution
Where PCDH15 is mutated · all tissues, split by cell line vs tissue
How many mutations in PCDH15 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 48 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 39,044 mutations in PCDH15
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 |
|---|