MYF5

Myogenic factor 5 P13349 MYF5_HUMAN
Protein Coding Chr 12 12q21.31 Swiss-Prot reviewed Entrez 4617
Mutations
341
CL 66 · Tissue 272
Samples
328
CL 63 · Tissue 262
Peptides
207
unique mutant peptides
Transcripts
1
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

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.

TotalCell lineTissue
Mutations34166272
Samples32863262
Peptides20736179

Function

MYF5 · Myogenic factor 5

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to contribute to E-box binding activity. Predicted to be involved in several processes, including muscle cell fate commitment; positive regulation of cell differentiation; and skeletal muscle cell differentiation. Predicted to act upstream of or within several processes, including animal organ development; regulation of cell-matrix adhesion; and somitogenesis. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

1 transcript · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

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.

TranscriptUniProtMutationsPeptides
ENST00000228644 P13349 341 207

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12q21.31
Entrez ID
Aliases
EORVAbHLHc2

Recurrent Mutations

All 207 amino-acid changes on canonical ENST00000228644 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

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 MYF5 · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MYF5 – 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 typeCell linesTissue samples
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Melanoma
3/210 1%
48/1899 3%
Non-Small Cell Lung Carcinoma
20/304 7%
20/1390 1%
Endometrial Carcinoma
4/42 10%
10/612 2%
Squamous Cell Lung Carcinoma
2/57 4%
15/810 2%
Neuroendocrine Tumour
6/154 4%
8/577 1%
Colorectal Carcinoma
9/143 6%
35/3239 1%
Other Solid Cancers
2/94 2%
18/1515 1%
Gastric Carcinoma
4/74 5%
16/1809 1%
Biliary Tract Carcinoma
1/54 2%
7/950 1%
Bladder Carcinoma
0/58 0%
8/956 1%
Hodgkins Lymphoma
1/16 6%
0/122 0%
Ovarian Carcinoma
3/109 3%
5/998 0%
Esophageal Carcinoma
0/23 0%
5/769 1%
Plasma Cell Myeloma
1/44 2%
1/305 0%
Head and Neck Carcinoma
1/85 1%
8/1574 1%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Other Sarcomas
2/69 3%
2/699 0%
Glioma
0/52 0%
11/2127 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
13/2550 1%
Mesothelioma
0/62 0%
1/165 1%
Burkitts Lymphoma
1/32 3%
0/196 0%
Hepatocellular Carcinoma
0/46 0%
9/2210 0%
Breast Carcinoma
0/144 0%
9/3264 0%
Neuroblastoma
0/87 0%
2/1331 0%
Pancreatic Carcinoma
0/89 0%
2/1611 0%
Other Blood Cancers
0/61 0%
3/2725 0%
Non-Cancerous
1/104 1%
0/830 0%
Prostate Carcinoma
0/13 0%
2/2105 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
2/2534 0%

Mutation Distribution

Where MYF5 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in MYF5 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 2 healthy tissues

GTEx Portal ↗
About the expression data
GTEx Expression

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 341 mutations in MYF5

About the mutation list
Mutations

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.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide