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 | 1,235 | 91 | 1,129 |
| Samples | 229 | 24 | 202 |
| Peptides | 174 | 19 | 160 |
Function
DUOXA1 · Dual oxidase maturation factor 1
Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively, which is essential for the maturation and function of the DUOX enzyme complexes. This gene encodes the DUOX1 activator or maturation factor DUOXA1. Rat studies identified a bidirectional promoter which controls the transcription of the DUOX1 and DUOXA1 genes. This protein is cotransported to the cell surface when coexpressed with DUOX1 and is retained in the endoplasmic reticulum when expressed without DUOX1 protein. The expression of this gene or the DUOX1 gene is not suppressed by thyroglobulin (Tg), a macromolecular precursor in thyroid hormone synthesis, while the expression of the DUOX2 and DUOXA2 are significantly suppressed by the Tg. This protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013].
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 157 amino-acid changes on canonical ENST00000267803 · 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 DUOXA1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DUOXA1 – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Melanoma | 0/210 0% | 38/1899 2% |
| Retinoblastoma | 0/27 0% | 1/30 3% |
| Endometrial Carcinoma | 0/42 0% | 8/612 1% |
| Colorectal Carcinoma | 4/143 3% | 28/3239 1% |
| Biliary Tract Carcinoma | 0/54 0% | 9/950 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 10/1390 1% |
| Esophageal Carcinoma | 0/23 0% | 6/769 1% |
| Ovarian Carcinoma | 1/109 1% | 7/998 1% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Other Solid Cancers | 0/94 0% | 11/1515 1% |
| Head and Neck Carcinoma | 1/85 1% | 9/1574 1% |
| Bladder Carcinoma | 2/58 3% | 4/956 0% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Hepatocellular Carcinoma | 2/46 4% | 10/2210 0% |
| Gastric Carcinoma | 1/74 1% | 9/1809 0% |
| Other Sarcomas | 0/69 0% | 4/699 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Pancreatic Carcinoma | 1/89 1% | 4/1611 0% |
| Glioma | 0/52 0% | 6/2127 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
| Kidney Carcinoma | 0/85 0% | 4/1862 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 5/2550 0% |
Mutation Distribution
Where DUOXA1 is mutated · all tissues, split by cell line vs tissue
How many mutations in DUOXA1 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 1,235 mutations in DUOXA1
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 |
|---|