MTMR1

Myotubularin related protein 1 Q13613 MTMR1_HUMAN
Protein Coding Chr X Xq28 Swiss-Prot reviewed Entrez 8776
Mutations
868
CL 88 · Tissue 768
Samples
342
CL 49 · Tissue 287
Peptides
262
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
Mutations86888768
Samples34249287
Peptides26237228

Function

MTMR1 · Myotubularin related protein 1

This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined. [provided by RefSeq, Jul 2008].

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
ENST00000445323 F8WA39* 358 238
ENST00000370390 Q13613 330 228
ENST00000542156 Q8NEC6* 176 115
ENST00000485376 Q13613-2 4 4

Gene Properties

Type
Protein Coding
Chromosome
X
Cytoband
Xq28
Entrez ID

Recurrent Mutations

All 228 amino-acid changes on canonical ENST00000370390 · 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 MTMR1 · 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 MTMR1 – 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
3/26 12%
0/0 0%
Endometrial Carcinoma
2/42 5%
27/612 4%
Glioblastoma
2/98 2%
0/0 0%
Cervical Carcinoma
1/35 3%
8/422 2%
Other Solid Cancers
0/94 0%
30/1515 2%
Bladder Carcinoma
4/58 7%
13/956 1%
Melanoma
5/210 2%
28/1899 1%
Burkitts Lymphoma
0/32 0%
3/196 2%
Non-Small Cell Lung Carcinoma
8/304 3%
14/1390 1%
Colorectal Carcinoma
7/143 5%
35/3239 1%
Plasma Cell Myeloma
0/44 0%
4/305 1%
Squamous Cell Lung Carcinoma
0/57 0%
9/810 1%
Germ Cell Tumour
2/25 8%
0/169 0%
Gastric Carcinoma
1/74 1%
16/1809 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Esophageal Squamous Cell Carcinoma
1/51 2%
21/2550 1%
Glioma
0/52 0%
18/2127 1%
Thyroid Gland Carcinoma
0/45 0%
12/1592 1%
B-Cell Non-Hodgkins Lymphoma
4/88 5%
12/2534 0%
Ovarian Carcinoma
1/109 1%
5/998 0%
Non-Cancerous
0/104 0%
4/830 0%
Meningioma
0/3 0%
1/252 0%
Hepatocellular Carcinoma
0/46 0%
8/2210 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Pancreatic Carcinoma
0/89 0%
4/1611 0%
Wilms Tumour
1/5 20%
0/474 0%
Breast Carcinoma
3/144 2%
4/3264 0%
Head and Neck Carcinoma
0/85 0%
3/1574 0%
Other Blood Cancers
2/61 3%
3/2725 0%
Kidney Carcinoma
0/85 0%
3/1862 0%

Mutation Distribution

Where MTMR1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in MTMR1 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 868 mutations in MTMR1

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