MTRR

5-methyltetrahydrofolate-homocysteine methyltransferase reductase Q9UBK8 MTRR_HUMAN
Protein Coding Chr 5 5p15.31 Swiss-Prot reviewed Entrez 4552
Mutations
954
CL 105 · Tissue 835
Samples
435
CL 60 · Tissue 371
Peptides
313
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
Mutations954105835
Samples43560371
Peptides31346265

Function

MTRR · 5-methyltetrahydrofolate-homocysteine methyltransferase reductase

This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015].

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
ENST00000264668 Q9UBK8-1 480 298
ENST00000440940 Q9UBK8 474 286

Gene Properties

Type
Protein Coding
Chromosome
5
Cytoband
5p15.31
Entrez ID
Aliases
MSRcblE

Recurrent Mutations

All 298 amino-acid changes on canonical ENST00000264668 · 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 MTRR · 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 MTRR – 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
Gastrointestinal Stromal Tumour
0/0 0%
37/133 28%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Endometrial Carcinoma
1/42 2%
23/612 4%
Non-Small Cell Lung Carcinoma
9/304 3%
32/1390 2%
Squamous Cell Lung Carcinoma
4/57 7%
15/810 2%
Colorectal Carcinoma
10/143 7%
43/3239 1%
Bladder Carcinoma
1/58 2%
14/956 1%
Rhabdomyosarcoma
0/33 0%
3/171 2%
Melanoma
4/210 2%
25/1899 1%
Burkitts Lymphoma
2/32 6%
1/196 1%
Cervical Carcinoma
0/35 0%
6/422 1%
Non-Cancerous
0/104 0%
12/830 1%
Small Cell Lung Carcinoma
0/9 0%
8/752 1%
Germ Cell Tumour
0/25 0%
2/169 1%
Gastric Carcinoma
0/74 0%
19/1809 1%
Esophageal Carcinoma
0/23 0%
7/769 1%
Plasma Cell Myeloma
1/44 2%
2/305 1%
Neuroendocrine Tumour
4/154 3%
2/577 0%
Esophageal Squamous Cell Carcinoma
6/51 12%
14/2550 1%
Hepatocellular Carcinoma
0/46 0%
17/2210 1%
Head and Neck Carcinoma
3/85 4%
8/1574 1%
Other Solid Cancers
0/94 0%
10/1515 1%
Other Sarcomas
0/69 0%
4/699 1%
Glioma
0/52 0%
11/2127 1%
Prostate Carcinoma
1/13 8%
9/2105 0%
Pancreatic Carcinoma
3/89 3%
5/1611 0%
Breast Carcinoma
2/144 1%
14/3264 0%
Ovarian Carcinoma
0/109 0%
5/998 0%
B-Cell Non-Hodgkins Lymphoma
2/88 2%
9/2534 0%
Kidney Carcinoma
2/85 2%
5/1862 0%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in MTRR 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 954 mutations in MTRR

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