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 | 2,065 | 316 | 1,710 |
| Samples | 845 | 163 | 666 |
| Peptides | 727 | 117 | 608 |
Function
MYOF · Myoferlin
Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 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.
Gene Properties
Recurrent Mutations
All 708 amino-acid changes on canonical ENST00000359263 · 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 MYOF · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MYOF – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 6/54 11% | 0/0 0% |
| Glioblastoma | 7/98 7% | 0/0 0% |
| Endometrial Carcinoma | 7/42 17% | 34/612 6% |
| Melanoma | 12/210 6% | 114/1899 6% |
| Unknown | 1/10 10% | 1/29 3% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 29/304 10% | 36/1390 3% |
| Colorectal Carcinoma | 23/143 16% | 92/3239 3% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Gastric Carcinoma | 3/74 4% | 52/1809 3% |
| Other Solid Cancers | 5/94 5% | 41/1515 3% |
| Cervical Carcinoma | 2/35 6% | 10/422 2% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Bladder Carcinoma | 4/58 7% | 22/956 2% |
| Hodgkins Lymphoma | 0/16 0% | 3/122 2% |
| Ovarian Carcinoma | 7/109 6% | 11/998 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 13/810 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 11/752 1% |
| Neuroendocrine Tumour | 9/154 6% | 1/577 0% |
| Non-Cancerous | 1/104 1% | 11/830 1% |
| Esophageal Carcinoma | 0/23 0% | 10/769 1% |
| Hepatocellular Carcinoma | 2/46 4% | 26/2210 1% |
| Plasma Cell Myeloma | 3/44 7% | 1/305 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 28/2550 1% |
| Head and Neck Carcinoma | 5/85 6% | 13/1574 1% |
| Glioma | 0/52 0% | 23/2127 1% |
| Kidney Carcinoma | 3/85 4% | 14/1862 1% |
| Prostate Carcinoma | 4/13 31% | 14/2105 1% |
| Pancreatic Carcinoma | 2/89 2% | 12/1611 1% |
Mutation Distribution
Where MYOF is mutated · all tissues, split by cell line vs tissue
How many mutations in MYOF 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 2,065 mutations in MYOF
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 |
|---|