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 | 1,678 | 287 | 1,356 |
| Samples | 842 | 183 | 646 |
| Peptides | 559 | 122 | 464 |
Function
PCDHB6 · Protocadherin beta 6
This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. Unlike the alpha and gamma clusters, the transcripts from these genes do not share common 3' exons. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell neural connections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014].
Isoforms & Proteins
3 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 |
|---|---|---|---|
| ENST00000231136 | Q9Y5E3 | 945 | 550 |
| ENST00000622991 | A0A096LNH7* | 730 | 442 |
| ENST00000708361 | Q9Y5E3 | 3 | 3 |
Gene Properties
Recurrent Mutations
All 550 amino-acid changes on canonical ENST00000231136 · 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 PCDHB6 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PCDHB6 – 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 | 12/40 30% | 0/0 0% |
| Chronic Myelogenous Leukemia | 4/25 16% | 0/0 0% |
| Melanoma | 27/210 13% | 105/1899 6% |
| Endometrial Carcinoma | 4/42 10% | 31/612 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 19/304 6% | 46/1390 3% |
| Squamous Cell Lung Carcinoma | 6/57 11% | 24/810 3% |
| Colorectal Carcinoma | 16/143 11% | 91/3239 3% |
| Other Solid Cancers | 4/94 4% | 46/1515 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Neuroendocrine Tumour | 15/154 10% | 6/577 1% |
| Gastric Carcinoma | 3/74 4% | 45/1809 2% |
| Rhabdomyosarcoma | 1/33 3% | 4/171 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 17/752 2% |
| Head and Neck Carcinoma | 6/85 7% | 31/1574 2% |
| Bladder Carcinoma | 1/58 2% | 19/956 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Mesothelioma | 3/62 5% | 1/165 1% |
| Esophageal Carcinoma | 1/23 4% | 10/769 1% |
| Biliary Tract Carcinoma | 1/54 2% | 13/950 1% |
| Cervical Carcinoma | 0/35 0% | 6/422 1% |
| Ovarian Carcinoma | 8/109 7% | 6/998 1% |
| Plasma Cell Myeloma | 3/44 7% | 1/305 0% |
| Other Sarcomas | 3/69 4% | 5/699 1% |
| Ewings Sarcoma | 0/63 0% | 3/262 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Non-Cancerous | 3/104 3% | 5/830 1% |
| Pancreatic Carcinoma | 0/89 0% | 14/1611 1% |
| Prostate Carcinoma | 3/13 23% | 13/2105 1% |
Mutation Distribution
Where PCDHB6 is mutated · all tissues, split by cell line vs tissue
How many mutations in PCDHB6 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 52 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 1,678 mutations in PCDHB6
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 |
|---|