Hs04317136_cn

• Gene Symbol: ESR1
• Assay Reference Genome Location: Chr.6:151673934 on build GRCh38
• Cytoband: 6q25.1

Target Gene Details

• Entrez Gene ID: 2099
• Gene Name: estrogen receptor 1
• Gene Aliases: ER, ESR, ESRA, ESTRR, Era, NR3A1
• Location: Chr.6:151654148-152103274 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ESR1	XM_017010376.1			XP_016865865.1
	XM_017010377.1			XP_016865866.1
	XM_017010380.1			XP_016865869.1
	AB685814.1
	AB685815.1
	AB685816.1
	AB685817.1
	AB685818.1
	AB685819.1
	AB685820.1
	X86816.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv830844	Chr.6:151638649 - 151860891 on Build GRCh38	Gain	ESR1
esv2761004	Chr.6:151528892 - 152050641 on Build GRCh38	Gain+Loss	CCDC170 ESR1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
antral ovarian follicle growth
osteoblast development
chromatin remodeling
transcription, DNA-templated
regulation of transcription, DNA-templated
transcription from RNA polymerase II promoter
transcription initiation from RNA polymerase II promoter
signal transduction
phospholipase C-activating G-protein coupled receptor signaling pathway
positive regulation of cytosolic calcium ion concentration
androgen metabolic process
negative regulation of gene expression
positive regulation of phospholipase C activity
intracellular steroid hormone receptor signaling pathway
intracellular estrogen receptor signaling pathway
response to estradiol
negative regulation of I-kappaB kinase/NF-kappaB signaling
negative regulation of sequence-specific DNA binding transcription factor activity
regulation of neuron apoptotic process
response to estrogen
positive regulation of epidermal growth factor receptor signaling pathway
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
negative regulation of glucose import
decidualization
positive regulation of fibroblast proliferation
negative regulation of smooth muscle cell proliferation
positive regulation of epithelial cell proliferation
positive regulation of sequence-specific DNA binding transcription factor activity
Sertoli cell development
Sertoli cell proliferation
uterus development
vagina development
prostate epithelial cord elongation
prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis
regulation of branching involved in prostate gland morphogenesis
mammary gland branching involved in pregnancy
mammary gland alveolus development
epithelial cell proliferation involved in mammary gland duct elongation
positive regulation of ERK1 and ERK2 cascade
protein localization to chromatin
cellular response to estrogen stimulus
cellular response to estradiol stimulus
negative regulation of triglyceride metabolic process
negative regulation of neuron death
negative regulation of production of miRNAs involved in gene silencing by miRNA
baculum development

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
core promoter sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
transcription coactivator binding
chromatin binding
transcription factor activity, sequence-specific DNA binding
steroid hormone receptor activity
steroid binding
protein binding
beta-catenin binding
transcription factor binding
zinc ion binding
enzyme binding
nitric-oxide synthase regulator activity
estrogen receptor activity
type 1 metabotropic glutamate receptor binding
protein complex binding
estrogen response element binding
phosphatidylinositol 3-kinase regulatory subunit binding
RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding
hormone binding
identical protein binding
ATPase binding