PPCS

Phosphopantothenoylcysteine synthetase Q9HAB8 PPCS_HUMAN
Protein Coding Chr 1 1p34.2 Swiss-Prot reviewed Entrez 79717
Mutations
281
CL 48 · Tissue 221
Samples
145
CL 38 · Tissue 105
Peptides
100
unique mutant peptides
Transcripts
4
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
Mutations28148221
Samples14538105
Peptides1001482

Function

PPCS · Phosphopantothenoylcysteine synthetase

Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this pathway, converts phosphopantothenate to phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008].

Isoforms & Proteins

4 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
ENST00000372561 Q9HAB8 141 78
ENST00000372560 Q5VVM3* 69 44
ENST00000372562 Q9HAB8-2 53 40
ENST00000372556 Q5VVM2* 18 17

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1p34.2
Entrez ID
Aliases
CMD2C

Recurrent Mutations

All 78 amino-acid changes on canonical ENST00000372561 · 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 PPCS · 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 PPCS – 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
2/40 5%
0/0 0%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Endometrial Carcinoma
0/42 0%
12/612 2%
Meningioma
0/3 0%
3/252 1%
Plasma Cell Myeloma
3/44 7%
1/305 0%
Chondrosarcoma
1/14 7%
0/75 0%
Ewings Sarcoma
3/63 5%
0/262 0%
Bladder Carcinoma
0/58 0%
9/956 1%
Melanoma
2/210 1%
13/1899 1%
Non-Cancerous
4/104 4%
2/830 0%
Colorectal Carcinoma
6/143 4%
13/3239 0%
Gastric Carcinoma
0/74 0%
10/1809 1%
Rhabdomyosarcoma
0/33 0%
1/171 1%
Non-Small Cell Lung Carcinoma
0/304 0%
8/1390 1%
Ovarian Carcinoma
2/109 2%
3/998 0%
Cervical Carcinoma
2/35 6%
0/422 0%
Burkitts Lymphoma
0/32 0%
1/196 1%
Other Solid Cancers
0/94 0%
6/1515 0%
Thyroid Gland Carcinoma
1/45 2%
4/1592 0%
Neuroendocrine Tumour
2/154 1%
0/577 0%
Other Sarcomas
0/69 0%
2/699 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
4/2550 0%
Squamous Cell Lung Carcinoma
0/57 0%
2/810 0%
Kidney Carcinoma
3/85 4%
0/1862 0%
Small Cell Lung Carcinoma
0/9 0%
1/752 0%
Other Blood Cancers
1/61 2%
2/2725 0%
Hepatocellular Carcinoma
0/46 0%
2/2210 0%
Prostate Carcinoma
0/13 0%
2/2105 0%
Breast Carcinoma
0/144 0%
3/3264 0%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in PPCS 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 281 mutations in PPCS

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