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 | 464 | 74 | 382 |
| Samples | 331 | 57 | 267 |
| Peptides | 259 | 44 | 220 |
Function
DDX41 · DEAD-box helicase 41
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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD box protein family and interacts with several spliceosomal proteins. In addition, the encoded protein may recognize the bacterial second messengers cyclic di-GMP and cyclic di-AMP, resulting in the induction of genes involved in the innate immune response. [provided by RefSeq, Jan 2017].
Isoforms & Proteins
4 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000330503 | Q9UJV9 | 189 | 133 |
| ENST00000507955 | A0A499FJW5* | 155 | 122 |
| ENST00000629036 | D6RGI7* | 97 | 73 |
| ENST00000625286 | D6RD33* | 23 | 19 |
Gene Properties
Recurrent Mutations
All 133 amino-acid changes on canonical ENST00000330503 · 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 DDX41 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DDX41 – 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 | 2/25 8% | 0/0 0% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Endometrial Carcinoma | 5/42 12% | 13/612 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Melanoma | 5/210 2% | 28/1899 1% |
| Hodgkins Lymphoma | 1/16 6% | 1/122 1% |
| Colorectal Carcinoma | 6/143 4% | 37/3239 1% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Gastric Carcinoma | 1/74 1% | 19/1809 1% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 11/1390 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 7/752 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 8/810 1% |
| Ovarian Carcinoma | 2/109 2% | 8/998 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Neuroendocrine Tumour | 0/154 0% | 6/577 1% |
| Other Sarcomas | 2/69 3% | 4/699 1% |
| Other Solid Cancers | 0/94 0% | 12/1515 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Bladder Carcinoma | 0/58 0% | 7/956 1% |
| Ewings Sarcoma | 0/63 0% | 2/262 1% |
| Biliary Tract Carcinoma | 1/54 2% | 5/950 1% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Head and Neck Carcinoma | 1/85 1% | 8/1574 1% |
| Non-Cancerous | 0/104 0% | 5/830 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Prostate Carcinoma | 2/13 15% | 9/2105 0% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 12/2550 0% |
Mutation Distribution
Where DDX41 is mutated · all tissues, split by cell line vs tissue
How many mutations in DDX41 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 464 mutations in DDX41
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 |
|---|