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 | 2,064 | 323 | 1,702 |
| Samples | 1,358 | 242 | 1,095 |
| Peptides | 1,238 | 191 | 1,051 |
Function
UTRN · Utrophin
This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008].
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 |
|---|---|---|---|
| ENST00000367545 | P46939 | 1,635 | 1,231 |
| ENST00000367526 | Q5T097* | 428 | 341 |
| ENST00000421035 | A0A0A0MSM3* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 1231 amino-acid changes on canonical ENST00000367545 · 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 UTRN · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in UTRN – 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% |
| Endometrial Carcinoma | 9/42 21% | 71/612 12% |
| Oral Cavity Carcinoma | 5/54 9% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Acute Myeloid Leukemia | 6/90 7% | 0/0 0% |
| Bladder Carcinoma | 6/58 10% | 58/956 6% |
| Melanoma | 14/210 7% | 112/1899 6% |
| Colorectal Carcinoma | 36/143 25% | 165/3239 5% |
| Gastric Carcinoma | 7/74 9% | 91/1809 5% |
| Non-Small Cell Lung Carcinoma | 22/304 7% | 63/1390 5% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 36/810 4% |
| Hodgkins Lymphoma | 4/16 25% | 2/122 2% |
| Other Solid Cancers | 3/94 3% | 65/1515 4% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Neuroendocrine Tumour | 20/154 13% | 8/577 1% |
| Cervical Carcinoma | 1/35 3% | 14/422 3% |
| Esophageal Carcinoma | 4/23 17% | 21/769 3% |
| Germ Cell Tumour | 3/25 12% | 3/169 2% |
| Small Cell Lung Carcinoma | 2/9 22% | 19/752 3% |
| Unknown | 0/10 0% | 1/29 3% |
| Ovarian Carcinoma | 7/109 6% | 20/998 2% |
| Chondrosarcoma | 2/14 14% | 0/75 0% |
| Head and Neck Carcinoma | 3/85 4% | 34/1574 2% |
| Hepatocellular Carcinoma | 4/46 9% | 46/2210 2% |
| Biliary Tract Carcinoma | 6/54 11% | 15/950 2% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 51/2550 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Mesothelioma | 3/62 5% | 1/165 1% |
| Burkitts Lymphoma | 3/32 9% | 1/196 1% |
Mutation Distribution
Where UTRN is mutated · all tissues, split by cell line vs tissue
How many mutations in UTRN 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 2,064 mutations in UTRN
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 |
|---|