MFN1

Mitofusin 1 Q8IWA4 MFN1_HUMAN
Protein Coding Chr 3 3q26.33 Swiss-Prot reviewed Entrez 55669
Mutations
628
CL 93 · Tissue 518
Samples
307
CL 59 · Tissue 240
Peptides
232
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
Mutations62893518
Samples30759240
Peptides23232199

Function

MFN1 · Mitofusin 1

The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting. [provided by RefSeq, Jul 2008].

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
ENST00000471841 Q8IWA4 329 232
ENST00000263969 Q8IWA4 299 222

Gene Properties

Type
Protein Coding
Chromosome
3
Cytoband
3q26.33
Entrez ID
Aliases
hfzo1hfzo2

Recurrent Mutations

All 232 amino-acid changes on canonical ENST00000471841 · 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 MFN1 · 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 MFN1 – 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
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
Oral Cavity Carcinoma
3/54 6%
0/0 0%
T-Lymphoblastic Leukemia
2/40 5%
0/0 0%
Endometrial Carcinoma
7/42 17%
14/612 2%
Non-Small Cell Lung Carcinoma
7/304 2%
16/1390 1%
Gastric Carcinoma
2/74 3%
22/1809 1%
Melanoma
7/210 3%
17/1899 1%
Squamous Cell Lung Carcinoma
2/57 4%
7/810 1%
Glioblastoma
1/98 1%
0/0 0%
Osteosarcoma
1/45 2%
1/166 1%
Other Sarcomas
2/69 3%
5/699 1%
Ovarian Carcinoma
2/109 2%
8/998 1%
Colorectal Carcinoma
7/143 5%
23/3239 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
23/2550 1%
Other Solid Cancers
0/94 0%
14/1515 1%
Bladder Carcinoma
0/58 0%
8/956 1%
Biliary Tract Carcinoma
3/54 6%
4/950 0%
Thyroid Gland Carcinoma
0/45 0%
11/1592 1%
Small Cell Lung Carcinoma
0/9 0%
5/752 1%
Cervical Carcinoma
0/35 0%
3/422 1%
Ewings Sarcoma
0/63 0%
2/262 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Mesothelioma
1/62 2%
0/165 0%
Burkitts Lymphoma
0/32 0%
1/196 1%
Medulloblastoma
0/0 0%
2/450 0%
Non-Cancerous
0/104 0%
4/830 0%
Head and Neck Carcinoma
0/85 0%
7/1574 0%
Neuroendocrine Tumour
3/154 2%
0/577 0%
Hepatocellular Carcinoma
0/46 0%
9/2210 0%
Breast Carcinoma
4/144 3%
9/3264 0%

Mutation Distribution

Where MFN1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in MFN1 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 628 mutations in MFN1

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