CTPS2

CTP synthase 2 Q9NRF8 PYRG2_HUMAN
Protein Coding Chr X Xp22.2 Swiss-Prot reviewed Entrez 56474
Mutations
556
CL 59 · Tissue 477
Samples
190
CL 32 · Tissue 151
Peptides
160
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
Mutations55659477
Samples19032151
Peptides16020137

Function

CTPS2 · CTP synthase 2

The protein encoded by this gene catalyzes the formation of CTP from UTP with the concomitant deamination of glutamine to glutamate. This protein is the rate-limiting enzyme in the synthesis of cytosine nucleotides, which play an important role in various metabolic processes and provide the precursors necessary for the synthesis of RNA and DNA. Cancer cells that exhibit increased cell proliferation also exhibit an increased activity of this encoded protein. Thus, this protein is an attractive target for selective chemotherapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013].

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
ENST00000359276 Q9NRF8 202 160
ENST00000380241 Q9NRF8 177 147
ENST00000443824 Q9NRF8 177 147

Gene Properties

Type
Protein Coding
Chromosome
X
Cytoband
Xp22.2
Entrez ID
Aliases
GATD5B

Recurrent Mutations

All 160 amino-acid changes on canonical ENST00000359276 · 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 CTPS2 · 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 CTPS2 – 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
3/40 8%
0/0 0%
Endometrial Carcinoma
3/42 7%
18/612 3%
Glioblastoma
2/98 2%
0/0 0%
Hodgkins Lymphoma
0/16 0%
2/122 2%
Gastric Carcinoma
0/74 0%
17/1809 1%
Non-Small Cell Lung Carcinoma
6/304 2%
9/1390 1%
Melanoma
2/210 1%
16/1899 1%
Colorectal Carcinoma
3/143 2%
25/3239 1%
Ovarian Carcinoma
3/109 3%
4/998 0%
Neuroendocrine Tumour
3/154 2%
1/577 0%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Squamous Cell Lung Carcinoma
0/57 0%
4/810 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
Hepatocellular Carcinoma
1/46 2%
9/2210 0%
Non-Cancerous
0/104 0%
4/830 0%
Bladder Carcinoma
0/58 0%
4/956 0%
Thyroid Gland Carcinoma
0/45 0%
6/1592 0%
Glioma
0/52 0%
7/2127 0%
Other Sarcomas
2/69 3%
0/699 0%
Head and Neck Carcinoma
0/85 0%
4/1574 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
6/2534 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Breast Carcinoma
0/144 0%
7/3264 0%
Other Solid Cancers
2/94 2%
1/1515 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Pancreatic Carcinoma
1/89 1%
1/1611 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
3/2550 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
Kidney Carcinoma
0/85 0%
2/1862 0%
Prostate Carcinoma
0/13 0%
1/2105 0%

Mutation Distribution

Where CTPS2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CTPS2 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 556 mutations in CTPS2

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