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 | 804 | 87 | 709 |
| Samples | 217 | 34 | 181 |
| Peptides | 168 | 27 | 148 |
Function
VDR · Vitamin D receptor
This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018].
Isoforms & Proteins
4 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000549336 | P11473 | 213 | 156 |
| ENST00000550325 | P11473-2 | 209 | 154 |
| ENST00000395324 | P11473 | 194 | 149 |
| ENST00000229022 | A0A5K1VW50* | 188 | 143 |
Gene Properties
Recurrent Mutations
All 156 amino-acid changes on canonical ENST00000549336 · 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 VDR · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in VDR – 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 |
|---|---|---|
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Endometrial Carcinoma | 7/42 17% | 15/612 2% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Melanoma | 5/210 2% | 23/1899 1% |
| Colorectal Carcinoma | 7/143 5% | 29/3239 1% |
| Gastric Carcinoma | 2/74 3% | 14/1809 1% |
| Other Solid Cancers | 1/94 1% | 11/1515 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 5/810 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Other Sarcomas | 2/69 3% | 3/699 0% |
| Ovarian Carcinoma | 1/109 1% | 6/998 1% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Glioma | 0/52 0% | 9/2127 0% |
| Neuroendocrine Tumour | 0/154 0% | 3/577 1% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 6/1592 0% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 5/1390 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Prostate Carcinoma | 0/13 0% | 5/2105 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 6/2550 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| Breast Carcinoma | 0/144 0% | 6/3264 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 4/2534 0% |
| Hepatocellular Carcinoma | 0/46 0% | 3/2210 0% |
Mutation Distribution
Where VDR is mutated · all tissues, split by cell line vs tissue
How many mutations in VDR 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 804 mutations in VDR
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 |
|---|