TMBIM4

Transmembrane BAX inhibitor motif containing 4 Q9HC24 LFG4_HUMAN
Protein Coding Chr 12 12q14.3 Swiss-Prot reviewed Entrez 51643
Mutations
432
CL 40 · Tissue 390
Samples
126
CL 18 · Tissue 106
Peptides
126
unique mutant peptides
Transcripts
6
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
Mutations43240390
Samples12618106
Peptides12613112

Function

TMBIM4 · Transmembrane BAX inhibitor motif containing 4

Involved in negative regulation of apoptotic process and regulation of calcium-mediated signaling. Located in Golgi stack. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

6 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
ENST00000358230 Q9HC24 124 89
ENST00000286424 G3XAA5* 119 89
ENST00000542724 G3V1M2* 76 52
ENST00000398033 E7EWY5* 73 49
ENST00000544599 G3V1R8* 30 25
ENST00000535812 F5GXT9* 10 10

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12q14.3
Entrez ID
Aliases
CGI-119GAAPLFG4S1RZPRO

Recurrent Mutations

All 89 amino-acid changes on canonical ENST00000358230 · 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 TMBIM4 · 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 TMBIM4 – 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
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
4/133 3%
Endometrial Carcinoma
0/42 0%
9/612 1%
Bladder Carcinoma
1/58 2%
9/956 1%
Cervical Carcinoma
0/35 0%
4/422 1%
Rhabdomyosarcoma
0/33 0%
1/171 1%
Colorectal Carcinoma
3/143 2%
13/3239 0%
Glioma
0/52 0%
10/2127 0%
Burkitts Lymphoma
0/32 0%
1/196 1%
Gastric Carcinoma
0/74 0%
8/1809 0%
Neuroendocrine Tumour
2/154 1%
1/577 0%
Meningioma
1/3 33%
0/252 0%
Squamous Cell Lung Carcinoma
0/57 0%
3/810 0%
Non-Small Cell Lung Carcinoma
4/304 1%
2/1390 0%
Breast Carcinoma
0/144 0%
11/3264 0%
Ewings Sarcoma
1/63 2%
0/262 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Other Solid Cancers
2/94 2%
2/1515 0%
Melanoma
0/210 0%
5/1899 0%
Hepatocellular Carcinoma
1/46 2%
4/2210 0%
Non-Cancerous
0/104 0%
2/830 0%
Thyroid Gland Carcinoma
0/45 0%
3/1592 0%
Ovarian Carcinoma
1/109 1%
1/998 0%
Head and Neck Carcinoma
0/85 0%
3/1574 0%
Prostate Carcinoma
0/13 0%
3/2105 0%
Other Sarcomas
0/69 0%
1/699 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Kidney Carcinoma
0/85 0%
2/1862 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
1/2534 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
1/2550 0%

Mutation Distribution

Where TMBIM4 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in TMBIM4 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 432 mutations in TMBIM4

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