COA8

Cytochrome c oxidase assembly factor 8 Q96IL0 COA8_HUMAN
Protein Coding Chr 14 14q32.33 Swiss-Prot reviewed Entrez 84334
Mutations
20
CL 12 · Tissue 0
Samples
16
CL 12 · Tissue 0
Peptides
18
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
Mutations20120
Samples16120
Peptides18100

Function

COA8 · Cytochrome c oxidase assembly factor 8

This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014].

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
ENST00000409074 A0A6Q8JUI0* 12 10
ENST00000674165 Q96IL0 8 8

Gene Properties

Type
Protein Coding
Chromosome
14
Cytoband
14q32.33
Entrez ID
Aliases
APOPAPOP1APOPT1C14orf153MC4DN17

Recurrent Mutations

All 8 amino-acid changes on canonical ENST00000674165 · 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 COA8 · 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 COA8 – 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
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Glioblastoma
1/98 1%
0/0 0%
Endometrial Carcinoma
2/42 5%
1/612 0%
Colorectal Carcinoma
3/143 2%
1/3239 0%
Ovarian Carcinoma
1/109 1%
0/998 0%
Other Blood Cancers
2/61 3%
0/2725 0%
B-Lymphoblastic Leukemia
2/55 4%
0/2640 0%
Non-Small Cell Lung Carcinoma
0/304 0%
1/1390 0%
Gastric Carcinoma
0/74 0%
1/1809 0%

Mutation Distribution

Where COA8 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in COA8 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.

Mutations

All 20 mutations in COA8

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