EXOSC5

Exosome component 5 Q9NQT4 EXOS5_HUMAN
Protein Coding Chr 19 19q13.2 Swiss-Prot reviewed Entrez 56915
Mutations
248
CL 43 · Tissue 202
Samples
135
CL 28 · Tissue 105
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
Mutations24843202
Samples13528105
Peptides1062388

Function

EXOSC5 · Exosome component 5

Predicted to enable RNA binding activity. Involved in DNA deamination and exonucleolytic catabolism of deadenylated mRNA. Acts upstream of or within defense response to virus. Located in nucleolus; nucleoplasm; and transcriptionally active chromatin. Part of exosome (RNase complex). [provided by Alliance of Genome Resources, Apr 2022]

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
ENST00000221233 Q9NQT4 138 97
ENST00000596905 M0R050* 110 82

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19q13.2
Entrez ID
Aliases
CABACRRP41BRRP46Rrp46phRrp46pp12B

Recurrent Mutations

All 97 amino-acid changes on canonical ENST00000221233 · 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 EXOSC5 · 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 EXOSC5 – 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
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
Hodgkins Lymphoma
0/16 0%
2/122 2%
Cervical Carcinoma
2/35 6%
4/422 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Endometrial Carcinoma
1/42 2%
5/612 1%
Bladder Carcinoma
2/58 3%
7/956 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Neuroendocrine Tumour
4/154 3%
2/577 0%
Gastric Carcinoma
2/74 3%
11/1809 1%
Colorectal Carcinoma
2/143 1%
19/3239 1%
Melanoma
1/210 0%
12/1899 1%
Squamous Cell Lung Carcinoma
1/57 2%
4/810 0%
Mesothelioma
1/62 2%
0/165 0%
Ewings Sarcoma
0/63 0%
1/262 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Other Solid Cancers
0/94 0%
4/1515 0%
Non-Small Cell Lung Carcinoma
2/304 1%
2/1390 0%
B-Cell Non-Hodgkins Lymphoma
5/88 6%
1/2534 0%
Non-Cancerous
0/104 0%
2/830 0%
Glioma
0/52 0%
4/2127 0%
Kidney Carcinoma
0/85 0%
3/1862 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
3/2550 0%
Prostate Carcinoma
0/13 0%
3/2105 0%
Hepatocellular Carcinoma
0/46 0%
3/2210 0%
Other Sarcomas
0/69 0%
1/699 0%
Head and Neck Carcinoma
1/85 1%
1/1574 0%
Breast Carcinoma
1/144 1%
2/3264 0%
Pancreatic Carcinoma
1/89 1%
0/1611 0%
B-Lymphoblastic Leukemia
0/55 0%
1/2640 0%

Mutation Distribution

Where EXOSC5 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in EXOSC5 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 248 mutations in EXOSC5

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