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 | 312 | 65 | 242 |
| Samples | 282 | 58 | 221 |
| Peptides | 231 | 43 | 190 |
Function
DDX50 · DExD-box helicase 50
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
1 transcript · 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000373585 | Q9BQ39 | 312 | 231 |
Gene Properties
Recurrent Mutations
All 231 amino-acid changes on canonical ENST00000373585 · 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 DDX50 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DDX50 – 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% |
| Endometrial Carcinoma | 5/42 12% | 22/612 4% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Rhabdomyosarcoma | 2/33 6% | 1/171 1% |
| Cervical Carcinoma | 2/35 6% | 4/422 1% |
| Colorectal Carcinoma | 14/143 10% | 28/3239 1% |
| Melanoma | 1/210 0% | 22/1899 1% |
| Prostate Carcinoma | 2/13 15% | 16/2105 1% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 11/1390 1% |
| Other Solid Cancers | 2/94 2% | 11/1515 1% |
| Hepatocellular Carcinoma | 0/46 0% | 18/2210 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 17/2550 1% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Other Sarcomas | 1/69 1% | 4/699 1% |
| Bladder Carcinoma | 1/58 2% | 5/956 1% |
| Gastric Carcinoma | 0/74 0% | 11/1809 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 9/1592 1% |
| Head and Neck Carcinoma | 1/85 1% | 7/1574 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 2/810 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Meningioma | 1/3 33% | 0/252 0% |
| Ovarian Carcinoma | 2/109 2% | 2/998 0% |
| Kidney Carcinoma | 0/85 0% | 7/1862 0% |
| Glioma | 0/52 0% | 7/2127 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
Mutation Distribution
Where DDX50 is mutated · all tissues, split by cell line vs tissue
How many mutations in DDX50 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 312 mutations in DDX50
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 |
|---|