MALT1

MALT1 paracaspase Q9UDY8 MALT1_HUMAN
Protein Coding Chr 18 18q21.32 Swiss-Prot reviewed Entrez 10892
Mutations
526
CL 79 · Tissue 432
Samples
274
CL 54 · Tissue 213
Peptides
228
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
Mutations52679432
Samples27454213
Peptides22838186

Function

MALT1 · MALT1 paracaspase

This gene encodes a caspase-like protease that plays a role in BCL10-induced activation of NF-kappaB. The protein is a component of the CARMA1-BCL10-MALT1 (CBM) signalosome that triggers NF-kappaB signaling and lymphoctye activation following antigen-receptor stimulation. Mutations in this gene result in immunodeficiency 12 (IMD12). This gene has been found to be recurrently rearranged in chromosomal translocations with other genes in mucosa-associated lymphoid tissue lymphomas, including a t(11;18)(q21;q21) translocation with the baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) locus [BIRC3(API2)-MALT1], and a t(14;18)(q32;q21) translocation with the immunoglobulin heavy chain locus (IGH-MALT1). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2018].

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
ENST00000649217 Q9UDY8 284 222
ENST00000345724 Q9UDY8-2 242 196

Gene Properties

Type
Protein Coding
Chromosome
18
Cytoband
18q21.32
Entrez ID
Aliases
IMD12MLTMLT1PCASP1

Recurrent Mutations

All 222 amino-acid changes on canonical ENST00000649217 · 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 MALT1 · 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 MALT1 – 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-Lymphoblastic Leukemia
2/40 5%
0/0 0%
Unknown
1/10 10%
0/29 0%
Endometrial Carcinoma
4/42 10%
11/612 2%
Bladder Carcinoma
5/58 9%
14/956 1%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Melanoma
1/210 0%
26/1899 1%
Colorectal Carcinoma
14/143 10%
25/3239 1%
Gastric Carcinoma
2/74 3%
19/1809 1%
Small Cell Lung Carcinoma
0/9 0%
8/752 1%
Glioblastoma
1/98 1%
0/0 0%
Non-Small Cell Lung Carcinoma
6/304 2%
11/1390 1%
Mesothelioma
2/62 3%
0/165 0%
Other Solid Cancers
1/94 1%
13/1515 1%
Plasma Cell Myeloma
1/44 2%
2/305 1%
Cervical Carcinoma
0/35 0%
3/422 1%
Thyroid Gland Carcinoma
0/45 0%
10/1592 1%
Squamous Cell Lung Carcinoma
0/57 0%
5/810 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Head and Neck Carcinoma
3/85 4%
5/1574 0%
Kidney Carcinoma
2/85 2%
6/1862 0%
Neuroendocrine Tumour
2/154 1%
1/577 0%
Glioma
0/52 0%
8/2127 0%
Ovarian Carcinoma
0/109 0%
4/998 0%
Ewings Sarcoma
0/63 0%
1/262 0%
Hepatocellular Carcinoma
0/46 0%
7/2210 0%
Prostate Carcinoma
1/13 8%
5/2105 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
7/2550 0%
Other Sarcomas
1/69 1%
1/699 0%
Pancreatic Carcinoma
0/89 0%
4/1611 0%
Medulloblastoma
0/0 0%
1/450 0%

Mutation Distribution

Where MALT1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in MALT1 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 526 mutations in MALT1

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