MTHFSD Methenyltetrahydrofolate synthetase domain containing Q2M296 MTHSD_HUMAN
Protein Coding Chr 16 16q24.1 Swiss-Prot reviewed Entrez 64779
Mutations
923
CL 146 · Tissue 772
Samples
206
CL 48 · Tissue 157
Peptides
173
unique mutant peptides
Transcripts
5
isoforms mutated

Stats by Source

Global, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Global = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Global can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

GlobalCell lineTissue
Mutations923146772
Samples20648157
Peptides17343138

Function

MTHFSD · Methenyltetrahydrofolate synthetase domain containing

Enables RNA binding activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

5 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
ENST00000360900 Q2M296 216 146
ENST00000634347 Q2M296-2 193 136
ENST00000381214 Q2M296-3 191 133
ENST00000543303 Q2M296-4 191 133
ENST00000546093 F5H0M7* 132 81

Gene Properties

Type
Protein Coding
Chromosome
16
Cytoband
16q24.1
Entrez ID

Recurrent Mutations

Top recurrent amino-acid changes along the protein · needle height = number of mutations

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 Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in MTHFSD 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 923 mutations in MTHFSD

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 CDSTypeSourcePeptide