DDRGK1

DDRGK domain containing 1 Q96HY6 DDRGK_HUMAN
Protein Coding Chr 20 20p13 Swiss-Prot reviewed Entrez 65992
Mutations
275
CL 43 · Tissue 225
Samples
166
CL 33 · Tissue 129
Peptides
120
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
Mutations27543225
Samples16633129
Peptides1202399

Function

DDRGK1 · DDRGK domain containing 1

The protein encoded by this gene interacts with components of the ubiquitin fold modifier 1 conjugation pathway and helps prevent apoptosis in ER-stressed secretory tissues. In addition, the encoded protein regulates nuclear factor-κB activity. [provided by RefSeq, Dec 2015].

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
ENST00000354488 Q96HY6 165 115
ENST00000380201 A0A0A0MRX2* 110 78

Gene Properties

Type
Protein Coding
Chromosome
20
Cytoband
20p13
Entrez ID
Aliases
C20orf116SEMDSHUFBP1dJ1187M17.3

Recurrent Mutations

All 115 amino-acid changes on canonical ENST00000354488 · 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 DDRGK1 · 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 DDRGK1 – 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
2/40 5%
0/0 0%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Endometrial Carcinoma
5/42 12%
7/612 1%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Ewings Sarcoma
0/63 0%
3/262 1%
Cervical Carcinoma
0/35 0%
4/422 1%
Non-Small Cell Lung Carcinoma
1/304 0%
11/1390 1%
Colorectal Carcinoma
4/143 3%
18/3239 1%
Gastric Carcinoma
1/74 1%
10/1809 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
15/2550 1%
Melanoma
1/210 0%
11/1899 1%
Mesothelioma
1/62 2%
0/165 0%
Burkitts Lymphoma
0/32 0%
1/196 1%
Bladder Carcinoma
0/58 0%
4/956 0%
Other Sarcomas
0/69 0%
3/699 0%
Glioma
0/52 0%
8/2127 0%
Non-Cancerous
1/104 1%
2/830 0%
Head and Neck Carcinoma
2/85 2%
3/1574 0%
Ovarian Carcinoma
3/109 3%
0/998 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Other Solid Cancers
0/94 0%
4/1515 0%
Thyroid Gland Carcinoma
0/45 0%
4/1592 0%
Hepatocellular Carcinoma
1/46 2%
4/2210 0%
Breast Carcinoma
3/144 2%
3/3264 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
4/2534 0%
B-Lymphoblastic Leukemia
3/55 5%
1/2640 0%
Other Blood Cancers
1/61 2%
3/2725 0%
Neuroblastoma
1/87 1%
1/1331 0%
Squamous Cell Lung Carcinoma
1/57 2%
0/810 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%

Mutation Distribution

Where DDRGK1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in DDRGK1 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 275 mutations in DDRGK1

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