Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
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.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 177 | 18 | 158 |
| Samples | 95 | 15 | 79 |
| Peptides | 79 | 11 | 69 |
Function
KDELR1 · KDEL endoplasmic reticulum protein retention receptor 1
Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, which is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. The protein encoded by this gene was the first member of the family to be identified, and it encodes a protein structurally and functionally similar to the yeast ERD2 gene product. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
2 transcripts · UniProt mapping is sequence-verified (AA-safe)
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.
Gene Properties
Recurrent Mutations
All 73 amino-acid changes on canonical ENST00000330720 · needle height = samples · drag the mini-map to zoom
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 KDELR1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in KDELR1 – 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 type | Cell lines | Tissue samples |
|---|---|---|
| Hodgkins Lymphoma | 0/16 0% | 2/122 2% |
| Endometrial Carcinoma | 0/42 0% | 8/612 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Colorectal Carcinoma | 6/143 4% | 12/3239 0% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Melanoma | 2/210 1% | 7/1899 0% |
| Neuroendocrine Tumour | 0/154 0% | 3/577 1% |
| Non-Cancerous | 1/104 1% | 2/830 0% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 4/1390 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Wilms Tumour | 1/5 20% | 0/474 0% |
| Bladder Carcinoma | 0/58 0% | 2/956 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 3/1592 0% |
| Hepatocellular Carcinoma | 0/46 0% | 4/2210 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| Gastric Carcinoma | 1/74 1% | 2/1809 0% |
| Neuroblastoma | 0/87 0% | 2/1331 0% |
| Other Blood Cancers | 0/61 0% | 4/2725 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 3/2550 0% |
| Head and Neck Carcinoma | 0/85 0% | 2/1574 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 1/810 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Breast Carcinoma | 1/144 1% | 2/3264 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 0/2640 0% |
| Other Solid Cancers | 0/94 0% | 1/1515 0% |
| Prostate Carcinoma | 0/13 0% | 1/2105 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
Mutation Distribution
Where KDELR1 is mutated · all tissues, split by cell line vs tissue
How many mutations in KDELR1 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
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 177 mutations in KDELR1
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.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|