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 | 1,423 | 216 | 1,193 |
| Samples | 791 | 150 | 633 |
| Peptides | 554 | 107 | 471 |
Function
PCDHB12 · Protocadherin beta 12
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. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
4 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 |
|---|---|---|---|
| ENST00000239450 | Q9Y5F1 | 867 | 531 |
| ENST00000624949 | Q9Y5F1-2 | 503 | 305 |
| ENST00000622978 | A0A096LP27* | 52 | 44 |
| ENST00000708380 | Q9Y5F1-2 | 1 | 1 |
Gene Properties
Recurrent Mutations
All 531 amino-acid changes on canonical ENST00000239450 · 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 PCDHB12 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PCDHB12 – 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 |
|---|---|---|
| Acute Monocytic Leukemia | 1/1 100% | 1/25 4% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 42/612 7% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Melanoma | 11/210 5% | 95/1899 5% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 15/304 5% | 51/1390 4% |
| Colorectal Carcinoma | 24/143 17% | 94/3239 3% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 26/810 3% |
| Gastric Carcinoma | 6/74 8% | 43/1809 2% |
| Unknown | 1/10 10% | 0/29 0% |
| Other Solid Cancers | 0/94 0% | 39/1515 3% |
| Bladder Carcinoma | 5/58 9% | 19/956 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Ovarian Carcinoma | 10/109 9% | 14/998 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 15/752 2% |
| Osteosarcoma | 2/45 4% | 2/166 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 29/1592 2% |
| Burkitts Lymphoma | 4/32 12% | 0/196 0% |
| Cervical Carcinoma | 0/35 0% | 7/422 2% |
| Mesothelioma | 3/62 5% | 0/165 0% |
| Neuroendocrine Tumour | 6/154 4% | 3/577 1% |
| Head and Neck Carcinoma | 2/85 2% | 18/1574 1% |
| Plasma Cell Myeloma | 3/44 7% | 1/305 0% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Rhabdomyosarcoma | 1/33 3% | 1/171 1% |
| Hepatocellular Carcinoma | 4/46 9% | 18/2210 1% |
| Non-Cancerous | 0/104 0% | 9/830 1% |
| Pancreatic Carcinoma | 3/89 3% | 13/1611 1% |
Mutation Distribution
Where PCDHB12 is mutated · all tissues, split by cell line vs tissue
How many mutations in PCDHB12 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 53 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 1,423 mutations in PCDHB12
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 |
|---|