PCYT2

Phosphate cytidylyltransferase 2, ethanolamine Q99447 PCY2_HUMAN
Protein Coding Chr 17 17q25.3 Swiss-Prot reviewed Entrez 5833
Mutations
844
CL 118 · Tissue 722
Samples
174
CL 37 · Tissue 133
Peptides
160
unique mutant peptides
Transcripts
6
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
Mutations844118722
Samples17437133
Peptides16029129

Function

PCYT2 · Phosphate cytidylyltransferase 2, ethanolamine

This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010].

Isoforms & Proteins

6 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
ENST00000538936 Q99447 173 136
ENST00000538721 Q99447-3 156 129
ENST00000570391 Q99447-4 144 122
ENST00000571105 I3L1R7* 137 115
ENST00000331285 Q99447-2 117 104
ENST00000570388 Q99447-2 117 104

Gene Properties

Type
Protein Coding
Chromosome
17
Cytoband
17q25.3
Entrez ID
Aliases
ETSPG82

Recurrent Mutations

All 136 amino-acid changes on canonical ENST00000538936 · 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 PCYT2 · 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 PCYT2 – 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
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
T-Lymphoblastic Leukemia
2/40 5%
0/0 0%
Endometrial Carcinoma
4/42 10%
9/612 1%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Melanoma
0/210 0%
22/1899 1%
Colorectal Carcinoma
12/143 8%
17/3239 1%
Hodgkins Lymphoma
1/16 6%
0/122 0%
Other Solid Cancers
0/94 0%
10/1515 1%
Non-Small Cell Lung Carcinoma
3/304 1%
6/1390 0%
Germ Cell Tumour
1/25 4%
0/169 0%
Glioma
0/52 0%
10/2127 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Non-Cancerous
0/104 0%
4/830 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Bladder Carcinoma
2/58 3%
2/956 0%
Esophageal Carcinoma
2/23 9%
1/769 0%
Hepatocellular Carcinoma
0/46 0%
8/2210 0%
Squamous Cell Lung Carcinoma
0/57 0%
3/810 0%
Thyroid Gland Carcinoma
0/45 0%
5/1592 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Gastric Carcinoma
1/74 1%
4/1809 0%
Ovarian Carcinoma
0/109 0%
3/998 0%
Neuroendocrine Tumour
1/154 1%
1/577 0%
Medulloblastoma
0/0 0%
1/450 0%
Wilms Tumour
0/5 0%
1/474 0%
Kidney Carcinoma
1/85 1%
3/1862 0%
Head and Neck Carcinoma
0/85 0%
3/1574 0%
Pancreatic Carcinoma
1/89 1%
2/1611 0%
Breast Carcinoma
1/144 1%
4/3264 0%
Neuroblastoma
1/87 1%
1/1331 0%

Mutation Distribution

Where PCYT2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PCYT2 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 844 mutations in PCYT2

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