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 | 3,642 | 720 | 2,854 |
| Samples | 1,590 | 362 | 1,198 |
| Peptides | 1,312 | 299 | 1,047 |
Function
UNC80 · Unc-80 subunit of NALCN channel complex
The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016].
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 |
|---|---|---|---|
| ENST00000439458 | Q8N2C7 | 1,703 | 1,215 |
| ENST00000272845 | Q8N2C7-7 | 1,686 | 1,207 |
| ENST00000673920 | A0A669KBC5* | 246 | 234 |
| ENST00000673951 | A0A669KAW8* | 7 | 7 |
Gene Properties
Recurrent Mutations
All 1215 amino-acid changes on canonical ENST00000439458 · 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 UNC80 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in UNC80 – 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 | 10/40 25% | 0/0 0% |
| Endometrial Carcinoma | 11/42 26% | 58/612 9% |
| Glioblastoma | 9/98 9% | 0/0 0% |
| Acute Myeloid Leukemia | 8/90 9% | 0/0 0% |
| Hodgkins Lymphoma | 4/16 25% | 7/122 6% |
| Non-Small Cell Lung Carcinoma | 73/304 24% | 59/1390 4% |
| Neuroendocrine Tumour | 31/154 20% | 24/577 4% |
| Colorectal Carcinoma | 41/143 29% | 177/3239 5% |
| Melanoma | 27/210 13% | 94/1899 5% |
| Small Cell Lung Carcinoma | 3/9 33% | 40/752 5% |
| Other Solid Cancers | 2/94 2% | 88/1515 6% |
| Gastric Carcinoma | 9/74 12% | 92/1809 5% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 97/2550 4% |
| Squamous Cell Lung Carcinoma | 10/57 18% | 23/810 3% |
| Cervical Carcinoma | 3/35 9% | 14/422 3% |
| Other Sarcomas | 4/69 6% | 22/699 3% |
| Ewings Sarcoma | 6/63 10% | 4/262 2% |
| Hepatocellular Carcinoma | 3/46 7% | 65/2210 3% |
| Germ Cell Tumour | 2/25 8% | 3/169 2% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Biliary Tract Carcinoma | 3/54 6% | 22/950 2% |
| Non-Cancerous | 3/104 3% | 19/830 2% |
| Thyroid Gland Carcinoma | 7/45 16% | 30/1592 2% |
| Mesothelioma | 3/62 5% | 2/165 1% |
| Ovarian Carcinoma | 13/109 12% | 11/998 1% |
| Esophageal Carcinoma | 1/23 4% | 15/769 2% |
| Kidney Carcinoma | 5/85 6% | 34/1862 2% |
| Osteosarcoma | 4/45 9% | 0/166 0% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
Mutation Distribution
Where UNC80 is mutated · all tissues, split by cell line vs tissue
How many mutations in UNC80 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 3,642 mutations in UNC80
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 |
|---|