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 | 587 | 132 | 448 |
| Samples | 221 | 72 | 145 |
| Peptides | 161 | 36 | 128 |
Function
DDX39B · DExD-box helicase 39B
This gene encodes a member of the DEAD box family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mRNA, and it also plays an important role in mRNA export from the nucleus to the cytoplasm. This gene belongs to a cluster of genes localized in the vicinity of the genes encoding tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on both chromosomes 6 and 11. Read-through transcription also occurs between this gene and the upstream ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) gene. [provided by RefSeq, Feb 2011].
Isoforms & Proteins
3 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 139 amino-acid changes on canonical ENST00000396172 · 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 DDX39B · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DDX39B – 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 | 10/40 25% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 8/612 1% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Melanoma | 3/210 1% | 18/1899 1% |
| Bladder Carcinoma | 0/58 0% | 10/956 1% |
| Neuroendocrine Tumour | 6/154 4% | 1/577 0% |
| Colorectal Carcinoma | 11/143 8% | 19/3239 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Thyroid Gland Carcinoma | 2/45 4% | 9/1592 1% |
| Ovarian Carcinoma | 4/109 4% | 3/998 0% |
| Hepatocellular Carcinoma | 1/46 2% | 13/2210 1% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 8/1390 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 3/810 0% |
| Gastric Carcinoma | 2/74 3% | 7/1809 0% |
| Head and Neck Carcinoma | 2/85 2% | 5/1574 0% |
| Other Sarcomas | 2/69 3% | 1/699 0% |
| Other Solid Cancers | 1/94 1% | 5/1515 0% |
| Glioma | 1/52 2% | 6/2127 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Kidney Carcinoma | 1/85 1% | 4/1862 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Wilms Tumour | 0/5 0% | 1/474 0% |
| Neuroblastoma | 2/87 2% | 1/1331 0% |
| Breast Carcinoma | 2/144 1% | 5/3264 0% |
Mutation Distribution
Where DDX39B is mutated · all tissues, split by cell line vs tissue
How many mutations in DDX39B 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 587 mutations in DDX39B
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 |
|---|