COASY

Coenzyme A synthase Q13057 COASY_HUMAN
Protein Coding Chr 17 17q21.2 Swiss-Prot reviewed Entrez 80347
Mutations
678
CL 137 · Tissue 524
Samples
247
CL 67 · Tissue 174
Peptides
201
unique mutant peptides
Transcripts
3
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
Mutations678137524
Samples24767174
Peptides20151149

Function

COASY · Coenzyme A synthase

Coenzyme A (CoA) functions as a carrier of acetyl and acyl groups in cells and thus plays an important role in numerous synthetic and degradative metabolic pathways in all organisms. In eukaryotes, CoA and its derivatives are also involved in membrane trafficking and signal transduction. This gene encodes the bifunctional protein coenzyme A synthase (CoAsy) which carries out the last two steps in the biosynthesis of CoA from pantothenic acid (vitamin B5). The phosphopantetheine adenylyltransferase domain of this bifunctional protein catalyzes the conversion of 4'-phosphopantetheine into dephospho-coenzyme A (dpCoA) while its dephospho-CoA kinase domain completes the final step by phosphorylating dpCoA to form CoA. Mutations in this gene are associated with neurodegeneration with brain iron accumulation (NBIA). Alternative splicing results in multiple isoforms. [provided by RefSeq, Apr 2014].

Isoforms & Proteins

3 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
ENST00000393818 Q13057 249 190
ENST00000590958 Q13057-2 219 178
ENST00000421097 Q13057 210 170

Gene Properties

Type
Protein Coding
Chromosome
17
Cytoband
17q21.2
Entrez ID
Aliases
DPCKNBIA6NBPPCH12PPATUKR1

Recurrent Mutations

All 190 amino-acid changes on canonical ENST00000393818 · 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 COASY · 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 COASY – 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-Lymphoblastic Leukemia
9/40 22%
0/0 0%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Glioblastoma
3/98 3%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
4/133 3%
Endometrial Carcinoma
0/42 0%
15/612 2%
Hodgkins Lymphoma
2/16 12%
1/122 1%
Colorectal Carcinoma
9/143 6%
30/3239 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Cervical Carcinoma
2/35 6%
3/422 1%
Other Solid Cancers
0/94 0%
17/1515 1%
Bladder Carcinoma
0/58 0%
10/956 1%
Gastric Carcinoma
6/74 8%
12/1809 1%
Burkitts Lymphoma
1/32 3%
1/196 1%
Melanoma
5/210 2%
12/1899 1%
Non-Small Cell Lung Carcinoma
5/304 2%
7/1390 0%
Head and Neck Carcinoma
3/85 4%
6/1574 0%
Biliary Tract Carcinoma
0/54 0%
5/950 1%
Osteosarcoma
0/45 0%
1/166 1%
Glioma
1/52 2%
9/2127 0%
Medulloblastoma
0/0 0%
2/450 0%
Hepatocellular Carcinoma
0/46 0%
9/2210 0%
Ovarian Carcinoma
1/109 1%
3/998 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Prostate Carcinoma
3/13 23%
3/2105 0%
Neuroendocrine Tumour
1/154 1%
1/577 0%
Other Sarcomas
0/69 0%
2/699 0%
Kidney Carcinoma
0/85 0%
5/1862 0%
Other Blood Cancers
4/61 7%
3/2725 0%
B-Cell Non-Hodgkins Lymphoma
3/88 3%
3/2534 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
6/2550 0%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in COASY 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 678 mutations in COASY

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