DDX47

DEAD-box helicase 47 Q9H0S4 DDX47_HUMAN
Protein Coding Chr 12 12p13.1 Swiss-Prot reviewed Entrez 51202
Mutations
349
CL 63 · Tissue 282
Samples
190
CL 40 · Tissue 147
Peptides
144
unique mutant peptides
Transcripts
2
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
Mutations34963282
Samples19040147
Peptides14426119

Function

DDX47 · DEAD-box helicase 47

This gene encodes a member of the DEAD box protein family. 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. The protein encoded by this gene can shuttle between the nucleus and the cytoplasm, and has an RNA-independent ATPase activity. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008].

Isoforms & Proteins

2 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
ENST00000358007 Q9H0S4 191 136
ENST00000352940 Q9H0S4-2 158 120

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12p13.1
Entrez ID
Aliases
E4-DBPHQ0256MSTP162RRP3

Recurrent Mutations

All 136 amino-acid changes on canonical ENST00000358007 · 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 DDX47 · 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 DDX47 – 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
1/40 2%
0/0 0%
Endometrial Carcinoma
0/42 0%
9/612 1%
Colorectal Carcinoma
7/143 5%
35/3239 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Other Solid Cancers
3/94 3%
14/1515 1%
Biliary Tract Carcinoma
1/54 2%
9/950 1%
Ovarian Carcinoma
3/109 3%
4/998 0%
Melanoma
1/210 0%
11/1899 1%
Non-Cancerous
0/104 0%
5/830 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Rhabdomyosarcoma
1/33 3%
0/171 0%
Non-Small Cell Lung Carcinoma
6/304 2%
2/1390 0%
Glioma
2/52 4%
8/2127 0%
Cervical Carcinoma
2/35 6%
0/422 0%
Hepatocellular Carcinoma
0/46 0%
10/2210 0%
Neuroendocrine Tumour
3/154 2%
0/577 0%
Bladder Carcinoma
0/58 0%
4/956 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
7/2550 0%
Gastric Carcinoma
0/74 0%
6/1809 0%
Kidney Carcinoma
2/85 2%
4/1862 0%
Head and Neck Carcinoma
1/85 1%
4/1574 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Squamous Cell Lung Carcinoma
2/57 4%
0/810 0%
Breast Carcinoma
0/144 0%
6/3264 0%
Prostate Carcinoma
0/13 0%
3/2105 0%
Other Sarcomas
0/69 0%
1/699 0%
Thyroid Gland Carcinoma
2/45 4%
0/1592 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
3/2534 0%
Neuroblastoma
0/87 0%
1/1331 0%
B-Lymphoblastic Leukemia
0/55 0%
1/2640 0%

Mutation Distribution

Where DDX47 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in DDX47 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 45 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 349 mutations in DDX47

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