Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
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.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 1,327 | 154 | 1,156 |
| Samples | 258 | 50 | 203 |
| Peptides | 356 | 52 | 312 |
Function
TXNRD1 · Thioredoxin reductase 1
The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes an ubiquitously expressed, cytosolic form of TrxR, which functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternative splicing, primarily at the 5' end, results in transcript variants encoding same or different isoforms, including a glutaredoxin-containing isoform that is predominantly expressed in testis. [provided by RefSeq, May 2017].
Isoforms & Proteins
7 transcripts · UniProt mapping is sequence-verified (AA-safe)
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.
Gene Properties
Recurrent Mutations
All 232 amino-acid changes on canonical ENST00000525566 · needle height = samples · drag the mini-map to zoom
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 TXNRD1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in TXNRD1 – 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 type | Cell lines | Tissue samples |
|---|---|---|
| T-Lymphoblastic Leukemia | 4/40 10% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Endometrial Carcinoma | 5/42 12% | 19/612 3% |
| Cervical Carcinoma | 0/35 0% | 6/422 1% |
| Melanoma | 2/210 1% | 23/1899 1% |
| Colorectal Carcinoma | 7/143 5% | 33/3239 1% |
| Other Sarcomas | 2/69 3% | 7/699 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 8/810 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Gastric Carcinoma | 2/74 3% | 17/1809 1% |
| Ovarian Carcinoma | 4/109 4% | 7/998 1% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 9/1390 1% |
| Bladder Carcinoma | 2/58 3% | 6/956 1% |
| Other Solid Cancers | 2/94 2% | 9/1515 1% |
| Head and Neck Carcinoma | 0/85 0% | 11/1574 1% |
| Neuroendocrine Tumour | 3/154 2% | 0/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Glioma | 0/52 0% | 8/2127 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Prostate Carcinoma | 1/13 8% | 5/2105 0% |
| Hepatocellular Carcinoma | 2/46 4% | 4/2210 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
| Neuroblastoma | 3/87 3% | 0/1331 0% |
| Breast Carcinoma | 0/144 0% | 7/3264 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 5/2550 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 3/2640 0% |
| Kidney Carcinoma | 0/85 0% | 3/1862 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
Mutation Distribution
Where TXNRD1 is mutated · all tissues, split by cell line vs tissue
How many mutations in TXNRD1 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
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 1,327 mutations in TXNRD1
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.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|