DHX8

DEAH-box helicase 8 Q14562 DHX8_HUMAN
Protein Coding Chr 17 17q21.31 Swiss-Prot reviewed Entrez 1659
Mutations
957
CL 154 · Tissue 782
Samples
490
CL 98 · Tissue 383
Peptides
380
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
Mutations957154782
Samples49098383
Peptides38059320

Function

DHX8 · DEAH-box helicase 8

This gene is a member of the DEAH box polypeptide family. The encoded protein contains the DEAH (Asp-Glu-Ala-His) motif which is characteristic of all DEAH box proteins, and is thought to function as an ATP-dependent RNA helicase that regulates the release of spliced mRNAs from spliceosomes prior to their export from the nucleus. This protein may be required for the replication of human immunodeficiency virus type 1 (HIV-1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014].

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
ENST00000262415 Q14562 513 377
ENST00000540306 F5H658* 444 349

Gene Properties

Type
Protein Coding
Chromosome
17
Cytoband
17q21.31
Entrez ID
Aliases
DDX8Dhr2HRH1PRP22PRPF22

Recurrent Mutations

All 377 amino-acid changes on canonical ENST00000262415 · 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 DHX8 · 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 DHX8 – 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-Cell Non-Hodgkins Lymphoma
3/26 12%
0/0 0%
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
Endometrial Carcinoma
6/42 14%
19/612 3%
Melanoma
11/210 5%
59/1899 3%
Colorectal Carcinoma
13/143 9%
67/3239 2%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Gastric Carcinoma
2/74 3%
31/1809 2%
Non-Small Cell Lung Carcinoma
9/304 3%
19/1390 1%
Bladder Carcinoma
3/58 5%
13/956 1%
Other Solid Cancers
3/94 3%
17/1515 1%
Non-Cancerous
0/104 0%
11/830 1%
Squamous Cell Lung Carcinoma
1/57 2%
9/810 1%
Plasma Cell Myeloma
3/44 7%
1/305 0%
Biliary Tract Carcinoma
2/54 4%
9/950 1%
Cervical Carcinoma
0/35 0%
5/422 1%
Hepatocellular Carcinoma
2/46 4%
19/2210 1%
Small Cell Lung Carcinoma
2/9 22%
5/752 1%
Other Sarcomas
2/69 3%
5/699 1%
Mesothelioma
2/62 3%
0/165 0%
Neuroendocrine Tumour
2/154 1%
4/577 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
20/2550 1%
Thyroid Gland Carcinoma
0/45 0%
12/1592 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Ewings Sarcoma
1/63 2%
1/262 0%
Kidney Carcinoma
4/85 5%
7/1862 0%
Glioma
2/52 4%
10/2127 0%
Ovarian Carcinoma
1/109 1%
5/998 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Head and Neck Carcinoma
0/85 0%
7/1574 0%
B-Cell Non-Hodgkins Lymphoma
5/88 6%
6/2534 0%

Mutation Distribution

Where DHX8 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in DHX8 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

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 957 mutations in DHX8

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