BORCS8-MEF2B

BORCS8-MEF2B readthrough Q02080 MEF2B_HUMAN
Protein Coding 19p13.11 Swiss-Prot reviewed Entrez 4207
Mutations
425
CL 24 · Tissue 392
Samples
206
CL 12 · Tissue 189
Peptides
162
unique mutant peptides
Transcripts
2
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
Mutations42524392
Samples20612189
Peptides16210153

Function

BORCS8-MEF2B · BORCS8-MEF2B readthrough

This gene represents numerous read-through transcripts that span GeneID:729991 and 100271849. Many read-through transcripts are predicted to be nonsense-mediated decay (NMD) candidates, and are thought to be non-coding. Some transcripts are predicted to be capable of translation reinitiation at a downstream AUG, resulting in expression of at least one isoform of myocyte enhancer factor 2B (MEF2B) from this read-through locus. At least one additional MEF2B variant and isoform can be expressed from a downstream promoter, and is annotated on GeneID:100271849. [provided by RefSeq, Oct 2010].

Isoforms & Proteins

2 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
ENST00000514819 H3BNR1* 216 151
ENST00000444486 Q02080 209 146

Gene Properties

Type
Protein Coding
Cytoband
19p13.11
Entrez ID
Aliases
LOC729991-MEF2BMEF2BMEF2BNB-MEF2BRSRFR2

Recurrent Mutations

All 146 amino-acid changes on canonical ENST00000444486 · 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 BORCS8-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 BORCS8-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
3/42 7%
8/612 1%
B-Cell Non-Hodgkins Lymphoma
2/88 2%
37/2534 1%
Burkitts Lymphoma
0/32 0%
2/196 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Ovarian Carcinoma
0/109 0%
8/998 1%
Melanoma
0/210 0%
15/1899 1%
Gastric Carcinoma
0/74 0%
13/1809 1%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Non-Small Cell Lung Carcinoma
5/304 2%
4/1390 0%
Hepatocellular Carcinoma
1/46 2%
11/2210 0%
Other Solid Cancers
0/94 0%
8/1515 1%
Thyroid Gland Carcinoma
0/45 0%
8/1592 0%
Osteosarcoma
0/45 0%
1/166 1%
Squamous Cell Lung Carcinoma
0/57 0%
4/810 0%
Head and Neck Carcinoma
0/85 0%
7/1574 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
11/2550 0%
Colorectal Carcinoma
1/143 1%
13/3239 0%
Bladder Carcinoma
0/58 0%
4/956 0%
Other Blood Cancers
0/61 0%
11/2725 0%
Neuroendocrine Tumour
0/154 0%
2/577 0%
Esophageal Carcinoma
0/23 0%
2/769 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%
Glioma
0/52 0%
4/2127 0%
Kidney Carcinoma
0/85 0%
3/1862 0%
Other Sarcomas
0/69 0%
1/699 0%
Neuroblastoma
0/87 0%
1/1331 0%
Pancreatic Carcinoma
0/89 0%
1/1611 0%
Prostate Carcinoma
0/13 0%
1/2105 0%

Mutation Distribution

Where BORCS8-MEF2B is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in BORCS8-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.

Mutations

All 425 mutations in BORCS8-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