COX20

Cytochrome c oxidase assembly factor COX20 Q5RI15 COX20_HUMAN
Protein Coding Chr 1 1q44 Swiss-Prot reviewed Entrez 116228
Mutations
97
CL 32 · Tissue 62
Samples
51
CL 21 · Tissue 28
Peptides
43
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
Mutations973262
Samples512128
Peptides431431

Function

COX20 · Cytochrome c oxidase assembly factor COX20

This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015].

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
ENST00000411948 Q5RI15 55 37
ENST00000366528 Q5RI15-2 42 32

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1q44
Entrez ID
Aliases
FAM36AMC4DN11

Recurrent Mutations

All 37 amino-acid changes on canonical ENST00000411948 · 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 COX20 · 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 COX20 – 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
Hodgkins Lymphoma
2/16 12%
0/122 0%
Glioblastoma
1/98 1%
0/0 0%
Osteosarcoma
2/45 4%
0/166 0%
Endometrial Carcinoma
1/42 2%
3/612 0%
Cervical Carcinoma
2/35 6%
0/422 0%
Gastric Carcinoma
2/74 3%
4/1809 0%
Non-Small Cell Lung Carcinoma
3/304 1%
2/1390 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Thyroid Gland Carcinoma
0/45 0%
4/1592 0%
Melanoma
0/210 0%
4/1899 0%
Hepatocellular Carcinoma
2/46 4%
2/2210 0%
Bladder Carcinoma
0/58 0%
1/956 0%
Glioma
1/52 2%
1/2127 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
1/2534 0%
Neuroblastoma
1/87 1%
0/1331 0%
Other Blood Cancers
2/61 3%
0/2725 0%
Colorectal Carcinoma
0/143 0%
2/3239 0%
Breast Carcinoma
0/144 0%
2/3264 0%
Other Solid Cancers
0/94 0%
1/1515 0%
Kidney Carcinoma
1/85 1%
0/1862 0%

Mutation Distribution

Where COX20 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in COX20 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 97 mutations in COX20

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