MTFR1

Mitochondrial fission regulator 1 Q15390 MTFR1_HUMAN
Protein Coding Chr 8 8q13.1 Swiss-Prot reviewed Entrez 9650
Mutations
271
CL 53 · Tissue 218
Samples
143
CL 34 · Tissue 109
Peptides
106
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
Mutations27153218
Samples14334109
Peptides1062189

Function

MTFR1 · Mitochondrial fission regulator 1

This gene encodes a mitochondrial protein that is characterized by a poly-proline rich region. A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells from oxidative stress. A related pseudogene of this gene is found on chromosome X. [provided by RefSeq, Mar 2009].

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
ENST00000262146 Q15390 147 98
ENST00000458689 Q15390-2 124 87

Gene Properties

Type
Protein Coding
Chromosome
8
Cytoband
8q13.1
Entrez ID
Aliases
CHPPRFAM54A2

Recurrent Mutations

All 98 amino-acid changes on canonical ENST00000262146 · 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 MTFR1 · 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 MTFR1 – 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
Oral Cavity Carcinoma
4/54 7%
0/0 0%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Endometrial Carcinoma
2/42 5%
10/612 2%
Bladder Carcinoma
1/58 2%
6/956 1%
Cervical Carcinoma
0/35 0%
3/422 1%
Gastric Carcinoma
1/74 1%
11/1809 1%
Colorectal Carcinoma
2/143 1%
19/3239 1%
Plasma Cell Myeloma
2/44 5%
0/305 0%
Melanoma
2/210 1%
10/1899 1%
Germ Cell Tumour
1/25 4%
0/169 0%
Osteosarcoma
1/45 2%
0/166 0%
Esophageal Carcinoma
0/23 0%
3/769 0%
Other Solid Cancers
1/94 1%
5/1515 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
8/2550 0%
Squamous Cell Lung Carcinoma
1/57 2%
2/810 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Head and Neck Carcinoma
1/85 1%
4/1574 0%
Pancreatic Carcinoma
3/89 3%
2/1611 0%
Ovarian Carcinoma
2/109 2%
1/998 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Other Sarcomas
0/69 0%
2/699 0%
Non-Small Cell Lung Carcinoma
2/304 1%
2/1390 0%
Breast Carcinoma
1/144 1%
7/3264 0%
Kidney Carcinoma
0/85 0%
3/1862 0%
Neuroendocrine Tumour
1/154 1%
0/577 0%
Hepatocellular Carcinoma
0/46 0%
3/2210 0%
B-Cell Non-Hodgkins Lymphoma
3/88 3%
0/2534 0%
Glioma
0/52 0%
2/2127 0%
Thyroid Gland Carcinoma
0/45 0%
1/1592 0%

Mutation Distribution

Where MTFR1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in MTFR1 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 271 mutations in MTFR1

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