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 | 6,245 | 614 | 5,590 |
| Samples | 485 | 77 | 405 |
| Peptides | 383 | 54 | 349 |
Function
ESRRG · Estrogen related receptor gamma
This gene encodes a member of the estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical DNA binding domain, which is composed of two C4-type zinc finger motifs. The ESRR members are orphan nuclear receptors; they bind to the estrogen response element and steroidogenic factor 1 response element, and activate genes controlled by both response elements in the absence of any ligands. The ESRR family is closely related to the estrogen receptor (ER) family. They share target genes, co-regulators and promoters, and by targeting the same set of genes, the ESRRs seem to interfere with the ER-mediated estrogen response in various ways. It has been reported that the family member encoded by this gene functions as a transcriptional activator of DNA cytosine-5-methyltransferases 1 (Dnmt1) expression by direct binding to its response elements in the DNMT1 promoters, modulates cell proliferation and estrogen signaling in breast cancer, and negatively regulates bone morphogenetic protein 2-induced osteoblast differentiation and bone formation. Multiple alternatively spliced transcript variants have been identified, which mainly differ at the 5' end and some of which encode protein isoforms differing in the N-terminal region. [provided by RefSeq, Aug 2011].
Isoforms & Proteins
14 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 |
|---|---|---|---|
| ENST00000408911 | P62508 | 500 | 331 |
| ENST00000366937 | P62508-5 | 457 | 324 |
| ENST00000359162 | P62508-2 | 444 | 313 |
| ENST00000360012 | P62508-2 | 444 | 313 |
| ENST00000361395 | P62508-2 | 444 | 313 |
| ENST00000361525 | P62508-2 | 444 | 313 |
| ENST00000366938 | P62508-2 | 444 | 313 |
| ENST00000366940 | P62508-2 | 444 | 313 |
| ENST00000391890 | P62508-2 | 444 | 313 |
| ENST00000487276 | P62508-2 | 444 | 313 |
| ENST00000493603 | P62508-2 | 444 | 313 |
| ENST00000493748 | P62508-2 | 444 | 313 |
| ENST00000616180 | P62508-2 | 444 | 313 |
| ENST00000463665 | P62508-4 | 404 | 290 |
Gene Properties
Recurrent Mutations
All 331 amino-acid changes on canonical ENST00000408911 · 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 ESRRG · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ESRRG – 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-Cell Non-Hodgkins Lymphoma | 3/26 12% | 0/0 0% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 28/810 3% |
| Non-Small Cell Lung Carcinoma | 14/304 5% | 42/1390 3% |
| Melanoma | 6/210 3% | 61/1899 3% |
| Endometrial Carcinoma | 4/42 10% | 15/612 2% |
| Other Solid Cancers | 3/94 3% | 30/1515 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Colorectal Carcinoma | 10/143 7% | 58/3239 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 12/752 2% |
| Gastric Carcinoma | 2/74 3% | 26/1809 1% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 31/2550 1% |
| Other Sarcomas | 2/69 3% | 7/699 1% |
| Neuroendocrine Tumour | 4/154 3% | 4/577 1% |
| Esophageal Carcinoma | 2/23 9% | 6/769 1% |
| Bladder Carcinoma | 4/58 7% | 6/956 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Hepatocellular Carcinoma | 0/46 0% | 15/2210 1% |
| Ovarian Carcinoma | 0/109 0% | 7/998 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 9/2534 0% |
| Breast Carcinoma | 0/144 0% | 14/3264 0% |
| Glioma | 2/52 4% | 7/2127 0% |
| Head and Neck Carcinoma | 0/85 0% | 6/1574 0% |
| Kidney Carcinoma | 3/85 4% | 3/1862 0% |
| B-Lymphoblastic Leukemia | 7/55 13% | 1/2640 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
Mutation Distribution
Where ESRRG is mutated · all tissues, split by cell line vs tissue
How many mutations in ESRRG 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 6,245 mutations in ESRRG
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 |
|---|