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 | 767 | 85 | 679 |
| Samples | 283 | 49 | 233 |
| Peptides | 244 | 41 | 211 |
Function
NR1I2 · Nuclear receptor subfamily 1 group I member 2
This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
3 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 215 amino-acid changes on canonical ENST00000337940 · 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 NR1I2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NR1I2 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Unknown | 1/10 10% | 0/29 0% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 12/612 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Small Cell Lung Carcinoma | 2/9 22% | 10/752 1% |
| Non-Small Cell Lung Carcinoma | 14/304 5% | 11/1390 1% |
| Melanoma | 0/210 0% | 25/1899 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 9/810 1% |
| Gastric Carcinoma | 1/74 1% | 18/1809 1% |
| Bladder Carcinoma | 0/58 0% | 9/956 1% |
| Cervical Carcinoma | 2/35 6% | 2/422 0% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Other Solid Cancers | 0/94 0% | 14/1515 1% |
| Colorectal Carcinoma | 5/143 4% | 24/3239 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 21/2550 1% |
| Hepatocellular Carcinoma | 1/46 2% | 18/2210 1% |
| Other Sarcomas | 0/69 0% | 6/699 1% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Ovarian Carcinoma | 1/109 1% | 4/998 0% |
| Head and Neck Carcinoma | 0/85 0% | 7/1574 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 5/1592 0% |
| Pancreatic Carcinoma | 3/89 3% | 2/1611 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Glioma | 0/52 0% | 6/2127 0% |
| Neuroendocrine Tumour | 0/154 0% | 2/577 0% |
| Breast Carcinoma | 0/144 0% | 9/3264 0% |
Mutation Distribution
Where NR1I2 is mutated · all tissues, split by cell line vs tissue
How many mutations in NR1I2 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 53 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 767 mutations in NR1I2
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 |
|---|