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 | 2,323 | 315 | 1,982 |
| Samples | 1,290 | 221 | 1,051 |
| Peptides | 1,028 | 165 | 888 |
Function
MYO3A · Myosin IIIA
The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [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.
Gene Properties
Recurrent Mutations
All 976 amino-acid changes on canonical ENST00000642920 · 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 MYO3A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MYO3A – 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 |
|---|---|---|
| Endometrial Carcinoma | 12/42 29% | 57/612 9% |
| T-Lymphoblastic Leukemia | 4/40 10% | 0/0 0% |
| Melanoma | 22/210 10% | 178/1899 9% |
| Acute Myeloid Leukemia | 6/90 7% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 11/57 19% | 40/810 5% |
| Other Solid Cancers | 7/94 7% | 81/1515 5% |
| Non-Small Cell Lung Carcinoma | 24/304 8% | 65/1390 5% |
| Colorectal Carcinoma | 28/143 20% | 135/3239 4% |
| Bladder Carcinoma | 5/58 9% | 39/956 4% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Neuroendocrine Tumour | 11/154 7% | 18/577 3% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Gastric Carcinoma | 9/74 12% | 63/1809 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Small Cell Lung Carcinoma | 1/9 11% | 21/752 3% |
| Esophageal Carcinoma | 1/23 4% | 17/769 2% |
| Ovarian Carcinoma | 6/109 6% | 19/998 2% |
| Burkitts Lymphoma | 5/32 16% | 0/196 0% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| Biliary Tract Carcinoma | 2/54 4% | 19/950 2% |
| Other Sarcomas | 3/69 4% | 13/699 2% |
| Hepatocellular Carcinoma | 1/46 2% | 45/2210 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Head and Neck Carcinoma | 4/85 5% | 26/1574 2% |
| Breast Carcinoma | 8/144 6% | 47/3264 1% |
| Glioma | 4/52 8% | 31/2127 1% |
| Rhabdomyosarcoma | 1/33 3% | 2/171 1% |
| Esophageal Squamous Cell Carcinoma | 6/51 12% | 30/2550 1% |
| Mesothelioma | 3/62 5% | 0/165 0% |
Mutation Distribution
Where MYO3A is mutated · all tissues, split by cell line vs tissue
How many mutations in MYO3A 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 52 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 2,323 mutations in MYO3A
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 |
|---|