TIMM17B

Translocase of inner mitochondrial membrane 17B O60830 TI17B_HUMAN
Protein Coding Chr X Xp11.23 Swiss-Prot reviewed Entrez 10245
Mutations
246
CL 23 · Tissue 214
Samples
75
CL 14 · Tissue 57
Peptides
86
unique mutant peptides
Transcripts
6
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
Mutations24623214
Samples751457
Peptides861271

Function

TIMM17B · Translocase of inner mitochondrial membrane 17B

This gene encodes a multipass transmembrane protein that forms an integral component of the mitochondrial translocase TIM23 complex. This complex facilitates the transport of mitochondrial proteins from the cytosol across the mitochondrial inner membrane and into the mitochondrion. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013].

Isoforms & Proteins

6 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
ENST00000396779 O60830-2 60 54
ENST00000465150 O60830-2 60 54
ENST00000495490 V9GYS0* 58 53
ENST00000376582 O60830 55 49
ENST00000696123 O60830 11 11
ENST00000710085 O60830 2 2

Gene Properties

Type
Protein Coding
Chromosome
X
Cytoband
Xp11.23
Entrez ID
Aliases
DXS9822JM3TIM17B

Recurrent Mutations

All 54 amino-acid changes on canonical ENST00000396779 · 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 TIMM17B · 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 TIMM17B – 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
1/25 4%
0/0 0%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Endometrial Carcinoma
0/42 0%
7/612 1%
Non-Small Cell Lung Carcinoma
1/304 0%
6/1390 0%
Hepatocellular Carcinoma
1/46 2%
8/2210 0%
Squamous Cell Lung Carcinoma
0/57 0%
3/810 0%
Colorectal Carcinoma
4/143 3%
7/3239 0%
Gastric Carcinoma
2/74 3%
4/1809 0%
Plasma Cell Myeloma
1/44 2%
0/305 0%
Ovarian Carcinoma
1/109 1%
2/998 0%
Glioma
1/52 2%
4/2127 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%
Bladder Carcinoma
0/58 0%
2/956 0%
Other Solid Cancers
0/94 0%
3/1515 0%
Neuroendocrine Tumour
0/154 0%
1/577 0%
Melanoma
0/210 0%
3/1899 0%
Other Sarcomas
0/69 0%
1/699 0%
Breast Carcinoma
0/144 0%
4/3264 0%
Non-Cancerous
0/104 0%
1/830 0%
Kidney Carcinoma
0/85 0%
2/1862 0%
Head and Neck Carcinoma
1/85 1%
0/1574 0%

Mutation Distribution

Where TIMM17B is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in TIMM17B 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 246 mutations in TIMM17B

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