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 | 1,596 | 295 | 1,273 |
| Samples | 808 | 177 | 612 |
| Peptides | 546 | 116 | 462 |
Function
PCDHGB1 · Protocadherin gamma subfamily B, 1
This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
2 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.
Gene Properties
Recurrent Mutations
All 538 amino-acid changes on canonical ENST00000523390 · 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 PCDHGB1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PCDHGB1 – 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% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Endometrial Carcinoma | 5/42 12% | 42/612 7% |
| Non-Small Cell Lung Carcinoma | 30/304 10% | 50/1390 4% |
| Other Solid Cancers | 7/94 7% | 54/1515 4% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Melanoma | 13/210 6% | 62/1899 3% |
| Colorectal Carcinoma | 19/143 13% | 91/3239 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Small Cell Lung Carcinoma | 2/9 22% | 18/752 2% |
| Cervical Carcinoma | 3/35 9% | 9/422 2% |
| Gastric Carcinoma | 2/74 3% | 47/1809 3% |
| Rhabdomyosarcoma | 3/33 9% | 2/171 1% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 15/810 2% |
| Bladder Carcinoma | 3/58 5% | 18/956 2% |
| Neuroendocrine Tumour | 11/154 7% | 2/577 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 45/2550 2% |
| Esophageal Carcinoma | 2/23 9% | 12/769 2% |
| Plasma Cell Myeloma | 1/44 2% | 5/305 2% |
| Hepatocellular Carcinoma | 5/46 11% | 29/2210 1% |
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Ovarian Carcinoma | 8/109 7% | 5/998 0% |
| Non-Cancerous | 2/104 2% | 8/830 1% |
| Germ Cell Tumour | 1/25 4% | 1/169 1% |
| Biliary Tract Carcinoma | 2/54 4% | 8/950 1% |
| Head and Neck Carcinoma | 3/85 4% | 13/1574 1% |
| Other Sarcomas | 0/69 0% | 7/699 1% |
| Mesothelioma | 1/62 2% | 1/165 1% |
| Prostate Carcinoma | 5/13 38% | 11/2105 1% |
| Pancreatic Carcinoma | 1/89 1% | 11/1611 1% |
Mutation Distribution
Where PCDHGB1 is mutated · all tissues, split by cell line vs tissue
How many mutations in PCDHGB1 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 1,596 mutations in PCDHGB1
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 |
|---|