DERL3

Derlin 3 Q96Q80 DERL3_HUMAN
Protein Coding Chr 22 22q11.23 Swiss-Prot reviewed Entrez 91319
Mutations
314
CL 47 · Tissue 254
Samples
129
CL 26 · Tissue 97
Peptides
140
unique mutant peptides
Transcripts
4
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
Mutations31447254
Samples1292697
Peptides14029106

Function

DERL3 · Derlin 3

The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be involved in the degradation of misfolded glycoproteins in the ER. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008].

Isoforms & Proteins

4 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
ENST00000318109 Q96Q80 97 78
ENST00000406855 Q96Q80-2 87 73
ENST00000476077 Q96Q80-5 70 59
ENST00000404056 E7EVA4* 60 52

Gene Properties

Type
Protein Coding
Chromosome
22
Cytoband
22q11.23
Entrez ID
Aliases
C22orf14IZP6LLN2derlin-3

Recurrent Mutations

All 78 amino-acid changes on canonical ENST00000318109 · 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 DERL3 · 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 DERL3 – 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
5/40 12%
0/0 0%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Endometrial Carcinoma
3/42 7%
8/612 1%
Cervical Carcinoma
1/35 3%
3/422 1%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Colorectal Carcinoma
3/143 2%
17/3239 1%
Other Solid Cancers
2/94 2%
7/1515 0%
Gastric Carcinoma
0/74 0%
10/1809 1%
Bladder Carcinoma
0/58 0%
5/956 1%
Osteosarcoma
1/45 2%
0/166 0%
Squamous Cell Lung Carcinoma
0/57 0%
4/810 0%
Thyroid Gland Carcinoma
0/45 0%
7/1592 0%
Non-Small Cell Lung Carcinoma
2/304 1%
5/1390 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Melanoma
1/210 0%
5/1899 0%
Neuroendocrine Tumour
1/154 1%
1/577 0%
Other Sarcomas
1/69 1%
1/699 0%
Kidney Carcinoma
1/85 1%
4/1862 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
5/2550 0%
Ovarian Carcinoma
2/109 2%
0/998 0%
Prostate Carcinoma
0/13 0%
3/2105 0%
Glioma
0/52 0%
3/2127 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Hepatocellular Carcinoma
0/46 0%
3/2210 0%
Pancreatic Carcinoma
0/89 0%
2/1611 0%
Non-Cancerous
0/104 0%
1/830 0%
Other Blood Cancers
0/61 0%
2/2725 0%
Head and Neck Carcinoma
0/85 0%
1/1574 0%
B-Lymphoblastic Leukemia
1/55 2%
0/2640 0%
Breast Carcinoma
0/144 0%
1/3264 0%

Mutation Distribution

Where DERL3 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in DERL3 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 314 mutations in DERL3

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