Gene: ESR1

LinkedOmicsKB © 2022-2023 Zhang Lab

Basic information

Full name
estrogen receptor 1
Ensembl
ENSG00000091831.23
Summary
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]
Annotation
Cancer driver (Oncogene) Cancer driver (TSG) Transcription factor Druggable target (Tier T1) Receptor

Protein product

  • ENST00000440973.5 Primary ENSP00000405330.1 (4 phosphosites)
  • ENST00000206249.7
  • ENST00000443427.5
  • ENST00000338799.9
  • ENST00000406599.5
  • ENST00000427531.6
  • ENST00000456483.3
  • ENST00000638569.1
Phosphosites on the primary protein product

Tumor and normal comparison

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Signed p-values
Data type
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
RNA-2e-45--2.6e-20---1.3e-3-1.1e-24-7.4e-4--3.2e-8-
protein-0.034--------0.18--0.094

* P-values are from Wilcoxon rank sum test and can be clicked to show the box plots. Positive values mean higher abundance in tumor. BRCA and GBM do not have normal samples.

mRNA expression at gene level
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC024681012141618log2(RSEM+1)tumornormal
Protein expression
BRCAOVUCEC1919.52020.52121.52222.52323.52424.52525.526log2(MS1 intensity)tumornormal

* Mild outlier: filled circle; Extreme outlier: empty circle.

Phenotype and mutation association

Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC02468101214161820220-2-4-6-8-10-12-14-16-18-20-22Pan-cancer051015202530350-5-10-15-20-25-30-35proteinRNASCNVclinicalpathwaycell typegenomicmutation-log10 of P-value

* Data points of significant associations above and below the dotted lines can be hovered to show the phenotype.

Associations of the protein abundance of ESR1 with phenotypes and mutations

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Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
PROGENy: Estrogen5.9e-172.2e-16------0.17-8.8e-7
HALLMARK_ESTROGEN_RESPONSE_EARLY4.7e-92.2e-16------0.72-0.12
HALLMARK_ESTROGEN_RESPONSE_LATE1.1e-72.2e-16------0.89-0.39
HALLMARK_BILE_ACID_METABOLISM3e-77.7e-5------0.56-1.5e-5
xcell: Mast cell3.1e-72.9e-7------0.14-0.023
HALLMARK_PEROXISOME1.7e-65.2e-6------0.55-1.7e-3
Clinical: Age5.8e-54.0e-5------0.071-0.29
xcell: Common myeloid progenitor9.8e-44.5e-5------0.032--0.6
PERT-P100-DIA_STAUROSPORINE3.5e-30.045--------0.034
PTEN mutation8.2e-3---------8.2e-3
Showing 1 to 10 of 256 rows

* P-values could be from test for Spearman correlation, Wilcoxon rank sum test, Jonckheere-Terpstra trend test or Cox regression depending on the data type. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Cis-association

Associations between omics data of ESR1

BRCA0.90-0.030.03proteinmRNASCNVmethylationCCRCC-0.040.420.04proteinmRNASCNVmethylationCOAD0.07proteinmRNASCNVmethylationGBM-0.100.360.21proteinmRNASCNVmethylationHNSCC0.110.250.03proteinmRNASCNVmethylationLSCC0.010.29-0.04proteinmRNASCNVmethylationLUAD-0.210.10-0.09proteinmRNASCNVmethylationOV0.770.290.35proteinmRNASCNVmethylationPDAC-0.050.210.10proteinmRNASCNVmethylationUCEC0.91-0.22-0.16-0.26-0.050.07proteinmRNASCNVmethylation

* The numbers are Spearman correlation coefficients and can be clicked to show the scatter plots. The color and size of the circles correlate with the coefficients.

Trans-association

Associations of the protein abundance of ESR1 and the protein abundance of other genes

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Signed p-values
Gene
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
No matching records found

* P-values are from test for Spearman correlation. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Gene set enrichment analysis

Submit genes and the common logarithm of the p-values of their association with to WebGestalt.