TOMM40

Translocase of outer mitochondrial membrane 40 O96008 TOM40_HUMAN
Protein Coding Chr 19 19q13.32 Swiss-Prot reviewed Entrez 10452
Mutations
348
CL 72 · Tissue 267
Samples
104
CL 32 · Tissue 69
Peptides
89
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
Mutations34872267
Samples1043269
Peptides892661

Function

TOMM40 · Translocase of outer mitochondrial membrane 40

The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015].

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
ENST00000426677 O96008 105 82
ENST00000252487 O96008 84 71
ENST00000405636 O96008 84 71
ENST00000592434 O96008-2 75 66

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19q13.32
Entrez ID
Aliases
C19orf1D19S1177EPER-EC1PEREC1TOM40

Recurrent Mutations

All 82 amino-acid changes on canonical ENST00000426677 · 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 TOMM40 · 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 TOMM40 – 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
Glioblastoma
2/98 2%
0/0 0%
Endometrial Carcinoma
5/42 12%
3/612 0%
Thyroid Gland Carcinoma
0/45 0%
9/1592 1%
Colorectal Carcinoma
7/143 5%
10/3239 0%
Rhabdomyosarcoma
1/33 3%
0/171 0%
Melanoma
2/210 1%
8/1899 0%
Squamous Cell Lung Carcinoma
3/57 5%
1/810 0%
Mesothelioma
1/62 2%
0/165 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Biliary Tract Carcinoma
1/54 2%
2/950 0%
Bladder Carcinoma
0/58 0%
3/956 0%
Neuroendocrine Tumour
2/154 1%
0/577 0%
Gastric Carcinoma
0/74 0%
5/1809 0%
Hepatocellular Carcinoma
2/46 4%
4/2210 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Ovarian Carcinoma
0/109 0%
2/998 0%
Breast Carcinoma
1/144 1%
4/3264 0%
Kidney Carcinoma
0/85 0%
3/1862 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
4/2550 0%
Neuroblastoma
2/87 2%
0/1331 0%
Non-Small Cell Lung Carcinoma
0/304 0%
2/1390 0%
Head and Neck Carcinoma
0/85 0%
2/1574 0%
Prostate Carcinoma
2/13 15%
0/2105 0%
Glioma
0/52 0%
2/2127 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
1/2534 0%
Other Solid Cancers
0/94 0%
1/1515 0%
B-Lymphoblastic Leukemia
0/55 0%
1/2640 0%
Other Blood Cancers
0/61 0%
1/2725 0%

Mutation Distribution

Where TOMM40 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in TOMM40 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 348 mutations in TOMM40

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