TYMS

Thymidylate synthetase P04818 TYSY_HUMAN
Protein Coding Chr 18 18p11.32 Swiss-Prot reviewed Entrez 7298
Mutations
341
CL 36 · Tissue 300
Samples
132
CL 21 · Tissue 108
Peptides
113
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
Mutations34136300
Samples13221108
Peptides1131696

Function

TYMS · Thymidylate synthetase

Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using, 10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occurring antisense transcript, mitochondrial enolase superfamily member 1 (GeneID:55556), vary inversely when cell-growth progresses from late-log to plateau phase. Polymorphisms in this gene may be associated with etiology of neoplasia, including breast cancer, and response to chemotherapy. [provided by RefSeq, Aug 2017].

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
ENST00000323274 P04818 137 100
ENST00000323224 P04818-2 112 84
ENST00000323250 P04818-3 92 69

Gene Properties

Type
Protein Coding
Chromosome
18
Cytoband
18p11.32
Entrez ID
Aliases
DKCDHST422TMSTS

Recurrent Mutations

All 100 amino-acid changes on canonical ENST00000323274 · 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 TYMS · 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 TYMS – 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
Oral Cavity Carcinoma
2/54 4%
0/0 0%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Rhabdomyosarcoma
0/33 0%
4/171 2%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Colorectal Carcinoma
6/143 4%
16/3239 0%
Esophageal Carcinoma
0/23 0%
5/769 1%
Endometrial Carcinoma
1/42 2%
3/612 0%
Thyroid Gland Carcinoma
0/45 0%
10/1592 1%
Ovarian Carcinoma
1/109 1%
5/998 0%
Non-Small Cell Lung Carcinoma
2/304 1%
7/1390 0%
Other Sarcomas
1/69 1%
3/699 0%
Bladder Carcinoma
0/58 0%
5/956 1%
Melanoma
0/210 0%
10/1899 1%
Gastric Carcinoma
0/74 0%
6/1809 0%
Hepatocellular Carcinoma
0/46 0%
7/2210 0%
Glioma
0/52 0%
6/2127 0%
Head and Neck Carcinoma
2/85 2%
2/1574 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
5/2550 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%
Other Solid Cancers
1/94 1%
2/1515 0%
Kidney Carcinoma
1/85 1%
2/1862 0%
Neuroendocrine Tumour
1/154 1%
0/577 0%
Small Cell Lung Carcinoma
0/9 0%
1/752 0%
Pancreatic Carcinoma
0/89 0%
2/1611 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
3/2534 0%
Prostate Carcinoma
0/13 0%
2/2105 0%
Breast Carcinoma
1/144 1%
1/3264 0%
B-Lymphoblastic Leukemia
0/55 0%
1/2640 0%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in TYMS 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 341 mutations in TYMS

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