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 | 308 | 59 | 244 |
| Samples | 179 | 44 | 132 |
| Peptides | 122 | 33 | 94 |
Function
UPK1A · Uroplakin 1A
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The protein may also play a role in tumor suppression. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013].
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 106 amino-acid changes on canonical ENST00000222275 · 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 UPK1A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in UPK1A – 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 | 4/40 10% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Endometrial Carcinoma | 5/42 12% | 7/612 1% |
| Squamous Cell Lung Carcinoma | 7/57 12% | 3/810 0% |
| Cervical Carcinoma | 1/35 3% | 4/422 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Melanoma | 7/210 3% | 14/1899 1% |
| Colorectal Carcinoma | 4/143 3% | 25/3239 1% |
| Gastric Carcinoma | 1/74 1% | 14/1809 1% |
| Other Sarcomas | 3/69 4% | 2/699 0% |
| Non-Cancerous | 0/104 0% | 5/830 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 8/1390 1% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Neuroendocrine Tumour | 3/154 2% | 0/577 0% |
| Hepatocellular Carcinoma | 0/46 0% | 9/2210 0% |
| Meningioma | 0/3 0% | 1/252 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 5/1592 0% |
| Other Solid Cancers | 0/94 0% | 6/1515 0% |
| Head and Neck Carcinoma | 0/85 0% | 4/1574 0% |
| Bladder Carcinoma | 0/58 0% | 2/956 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 3/2550 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Breast Carcinoma | 0/144 0% | 4/3264 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Kidney Carcinoma | 0/85 0% | 2/1862 0% |
| Ovarian Carcinoma | 0/109 0% | 1/998 0% |
| Neuroblastoma | 1/87 1% | 0/1331 0% |
| Other Blood Cancers | 0/61 0% | 2/2725 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
Mutation Distribution
Where UPK1A is mutated · all tissues, split by cell line vs tissue
How many mutations in UPK1A 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 308 mutations in UPK1A
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 |
|---|