DERL2

Derlin 2 Q9GZP9 DERL2_HUMAN
Protein Coding Chr 17 17p13.2 Swiss-Prot reviewed Entrez 51009
Mutations
112
CL 23 · Tissue 83
Samples
69
CL 18 · Tissue 46
Peptides
71
unique mutant peptides
Transcripts
3
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
Mutations1122383
Samples691846
Peptides711453

Function

DERL2 · Derlin 2

Proteins that are unfolded or misfolded in the endoplasmic reticulum (ER) must be refolded or degraded to maintain the homeostasis of the ER. DERL2 is involved in the degradation of misfolded glycoproteins in the ER (Oda et al., 2006 [PubMed 16449189]).[supplied by OMIM, Mar 2008].

Isoforms & Proteins

3 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
ENST00000158771 Q9GZP9 71 61
ENST00000570848 I3L1S8* 28 25
ENST00000572834 I3L3R8* 13 13

Gene Properties

Type
Protein Coding
Chromosome
17
Cytoband
17p13.2
Entrez ID
Aliases
CGI-101DERtrin-2F-LAN-1F-LANaFLANaderlin-2

Recurrent Mutations

All 61 amino-acid changes on canonical ENST00000158771 · 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 DERL2 · 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 DERL2 – 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
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Hodgkins Lymphoma
2/16 12%
0/122 0%
Osteosarcoma
2/45 4%
0/166 0%
Plasma Cell Myeloma
0/44 0%
3/305 1%
Colorectal Carcinoma
9/143 6%
13/3239 0%
Germ Cell Tumour
1/25 4%
0/169 0%
Endometrial Carcinoma
0/42 0%
3/612 0%
Mesothelioma
1/62 2%
0/165 0%
Gastric Carcinoma
2/74 3%
3/1809 0%
Melanoma
0/210 0%
5/1899 0%
Non-Small Cell Lung Carcinoma
0/304 0%
4/1390 0%
Bladder Carcinoma
0/58 0%
2/956 0%
Other Solid Cancers
0/94 0%
3/1515 0%
Neuroendocrine Tumour
0/154 0%
1/577 0%
Pancreatic Carcinoma
0/89 0%
2/1611 0%
Non-Cancerous
0/104 0%
1/830 0%
Kidney Carcinoma
0/85 0%
2/1862 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
Glioma
0/52 0%
2/2127 0%
Ovarian Carcinoma
0/109 0%
1/998 0%
Head and Neck Carcinoma
0/85 0%
1/1574 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
1/2550 0%
B-Lymphoblastic Leukemia
1/55 2%
0/2640 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
1/2534 0%

Mutation Distribution

Where DERL2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in DERL2 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 112 mutations in DERL2

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