MEF2B

Myocyte enhancer factor 2B Q02080-2 MEF2B_HUMAN
Protein Coding Chr 19 19p13.11 Swiss-Prot reviewed Entrez 100271849
Mutations
804
CL 72 · Tissue 723
Samples
232
CL 37 · Tissue 192
Peptides
199
unique mutant peptides
Transcripts
4
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
Mutations80472723
Samples23237192
Peptides19926179

Function

MEF2B · Myocyte enhancer factor 2B

The product of this gene is a member of the MADS/MEF2 family of DNA binding proteins. The protein is thought to regulate gene expression, including expression of the smooth muscle myosin heavy chain gene. This region undergoes considerable alternative splicing, with transcripts supporting two non-overlapping loci (GeneID 729991 and 100271849) as well as numerous read-through transcripts that span both loci (annotated as GeneID 4207). Several isoforms of this protein are expressed from either this locus or from some of the read-through transcripts annotated on GeneID 4207. [provided by RefSeq, Jan 2014].

Isoforms & Proteins

4 transcripts · 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
ENST00000424583 Q02080-2 230 154
ENST00000410050 C9J4J4* 204 143
ENST00000409224 B3KQ23* 187 127
ENST00000409447 B8ZZJ5* 183 125

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19p13.11
Entrez ID
Aliases
RSRFR2

Recurrent Mutations

All 154 amino-acid changes on canonical ENST00000424583 · 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 MEF2B · 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 MEF2B – 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
Endometrial Carcinoma
6/42 14%
8/612 1%
B-Cell Non-Hodgkins Lymphoma
6/88 7%
37/2534 1%
Glioblastoma
1/98 1%
0/0 0%
Melanoma
3/210 1%
16/1899 1%
Burkitts Lymphoma
0/32 0%
2/196 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Non-Small Cell Lung Carcinoma
9/304 3%
4/1390 0%
Ovarian Carcinoma
0/109 0%
8/998 1%
Hodgkins Lymphoma
1/16 6%
0/122 0%
Hepatocellular Carcinoma
2/46 4%
13/2210 1%
Gastric Carcinoma
1/74 1%
11/1809 1%
Bladder Carcinoma
0/58 0%
6/956 1%
Squamous Cell Lung Carcinoma
1/57 2%
4/810 0%
Other Solid Cancers
0/94 0%
9/1515 1%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Head and Neck Carcinoma
1/85 1%
7/1574 0%
Other Blood Cancers
1/61 2%
12/2725 0%
Osteosarcoma
0/45 0%
1/166 1%
Colorectal Carcinoma
2/143 1%
13/3239 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
11/2550 0%
Thyroid Gland Carcinoma
0/45 0%
6/1592 0%
Other Sarcomas
0/69 0%
2/699 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Glioma
1/52 2%
4/2127 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Non-Cancerous
0/104 0%
2/830 0%
Breast Carcinoma
0/144 0%
6/3264 0%
Neuroendocrine Tumour
1/154 1%
0/577 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
Kidney Carcinoma
0/85 0%
2/1862 0%

Mutation Distribution

Where MEF2B is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in MEF2B 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

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 804 mutations in MEF2B

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