DDX4

DEAD-box helicase 4 Q9NQI0 DDX4_HUMAN
Protein Coding Chr 5 5q11.2 Swiss-Prot reviewed Entrez 54514
Mutations
1,929
CL 261 · Tissue 1,651
Samples
430
CL 92 · Tissue 334
Peptides
345
unique mutant peptides
Transcripts
5
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

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.

TotalCell lineTissue
Mutations1,9292611,651
Samples43092334
Peptides34569290

Function

DDX4 · DEAD-box helicase 4

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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a homolog of VASA proteins in Drosophila and several other species. The gene is specifically expressed in the germ cell lineage in both sexes and functions in germ cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009].

Isoforms & Proteins

5 transcripts · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

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.

TranscriptUniProtMutationsPeptides
ENST00000505374 Q9NQI0 455 308
ENST00000353507 Q9NQI0-2 387 279
ENST00000354991 Q9NQI0-2 387 279
ENST00000514278 Q9NQI0-4 370 279
ENST00000511853 Q9NQI0-3 330 229

Gene Properties

Type
Protein Coding
Chromosome
5
Cytoband
5q11.2
Entrez ID
Aliases
VASA

Recurrent Mutations

All 308 amino-acid changes on canonical ENST00000505374 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

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 DDX4 · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DDX4 – 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 typeCell linesTissue samples
T-Lymphoblastic Leukemia
6/40 15%
0/0 0%
Chordoma
0/7 0%
1/13 8%
Melanoma
13/210 6%
70/1899 4%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
5/133 4%
Endometrial Carcinoma
4/42 10%
19/612 3%
Hodgkins Lymphoma
3/16 19%
0/122 0%
Glioblastoma
2/98 2%
0/0 0%
Other Solid Cancers
0/94 0%
32/1515 2%
Squamous Cell Lung Carcinoma
4/57 7%
9/810 1%
Colorectal Carcinoma
15/143 10%
35/3239 1%
Non-Small Cell Lung Carcinoma
9/304 3%
15/1390 1%
Neuroendocrine Tumour
5/154 3%
5/577 1%
Bladder Carcinoma
3/58 5%
9/956 1%
Other Sarcomas
4/69 6%
5/699 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Non-Cancerous
1/104 1%
8/830 1%
Gastric Carcinoma
0/74 0%
17/1809 1%
Biliary Tract Carcinoma
0/54 0%
9/950 1%
Mesothelioma
2/62 3%
0/165 0%
Esophageal Carcinoma
0/23 0%
6/769 1%
Ovarian Carcinoma
2/109 2%
5/998 0%
Hepatocellular Carcinoma
0/46 0%
14/2210 1%
Ewings Sarcoma
1/63 2%
1/262 0%
Esophageal Squamous Cell Carcinoma
3/51 6%
12/2550 0%
Kidney Carcinoma
1/85 1%
10/1862 1%
Glioma
1/52 2%
11/2127 1%
Thyroid Gland Carcinoma
1/45 2%
8/1592 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Osteosarcoma
0/45 0%
1/166 1%

Mutation Distribution

Where DDX4 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in DDX4 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 50 healthy tissues

GTEx Portal ↗
About the expression data
GTEx Expression

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 1,929 mutations in DDX4

About the mutation list
Mutations

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.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide