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 | 2,956 | 144 | 2,756 |
| Samples | 583 | 50 | 521 |
| Peptides | 366 | 39 | 321 |
Function
ESR1 · Estrogen receptor 1
This gene encodes an estrogen receptor and ligand-activated transcription factor. The canonical protein contains an N-terminal ligand-independent transactivation domain, a central DNA binding domain, a hinge domain, and a C-terminal ligand-dependent transactivation domain. The protein localizes to the nucleus where it may form either a homodimer or a heterodimer with estrogen receptor 2. The protein encoded by this gene regulates the transcription of many estrogen-inducible genes that play a role in growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed in many non-reproductive tissues. The receptor encoded by this gene plays a key role in breast cancer, endometrial cancer, and osteoporosis. This gene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splicing, however, the full-length nature of many of these variants remain uncertain. [provided by RefSeq, Jul 2020].
Isoforms & Proteins
7 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 334 amino-acid changes on canonical ENST00000206249 · 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 ESR1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ESR1 – 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 |
|---|---|---|
| Endometrial Carcinoma | 2/42 5% | 27/612 4% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Breast Carcinoma | 2/144 1% | 122/3264 4% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Colorectal Carcinoma | 15/143 10% | 92/3239 3% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Melanoma | 6/210 3% | 45/1899 2% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 17/810 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Gastric Carcinoma | 2/74 3% | 31/1809 2% |
| Small Cell Lung Carcinoma | 0/9 0% | 13/752 2% |
| Biliary Tract Carcinoma | 0/54 0% | 15/950 2% |
| Other Solid Cancers | 2/94 2% | 22/1515 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 19/1390 1% |
| Glioma | 0/52 0% | 21/2127 1% |
| Non-Cancerous | 1/104 1% | 7/830 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 20/2550 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 12/1592 1% |
| Bladder Carcinoma | 0/58 0% | 7/956 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Other Sarcomas | 0/69 0% | 5/699 1% |
| Neuroendocrine Tumour | 1/154 1% | 3/577 1% |
| Hepatocellular Carcinoma | 1/46 2% | 11/2210 0% |
| Pancreatic Carcinoma | 1/89 1% | 7/1611 0% |
| Ovarian Carcinoma | 1/109 1% | 4/998 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Meningioma | 0/3 0% | 1/252 0% |
| Head and Neck Carcinoma | 0/85 0% | 6/1574 0% |
| Prostate Carcinoma | 0/13 0% | 7/2105 0% |
Mutation Distribution
Where ESR1 is mutated · all tissues, split by cell line vs tissue
How many mutations in ESR1 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 2,956 mutations in ESR1
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 |
|---|