Hs02796347_cn

• Gene Symbol: ESRRA
• Assay Reference Genome Location: Chr.11:64307178 on build GRCh38
• Cytoband: 11q13.1

Target Gene Details

• Entrez Gene ID: 2101
• Gene Name: estrogen related receptor alpha
• Gene Aliases: ERR1, ERRa, ERRalpha, ESRL1, NR3B1
• Location: Chr.11:64305528-64316743 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ESRRA	NM_001282450.1			NP_001269379.1
	NM_001282451.1			NP_001269380.1
	NM_004451.4			NP_004442.3
	XM_017017313.1	1	724	XP_016872802.1
	BC063795.1
	BC073956.1			AAH73956.1
	BC092470.1			AAH92470.1
	BC093720.1			AAH93720.1
	BC093722.1			AAH93722.1
	DB478332.1
	HQ692867.1
	L38487.1			AAB17015.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv951010	Chr.11:63942829 - 64352128 on Build GRCh38	Deletion	DNAJC4 TEX40 COX8A STIP1 PLCB3 CCDC88B NUDT22 GPR137 LOC105369340 FERMT3 MIR7155 MACROD1 PRDX5 BAD KCNK4 KCNK4-TEX40 TRMT112 ESRRA TRPT1 FKBP2 VEGFB OTUB1 NAA40 PPP1R14B FLRT1
dgv1963n54	Chr.11:64174262 - 64329761 on Build GRCh38	Loss	DNAJC4 TEX40 BAD KCNK4 KCNK4-TEX40 TRMT112 STIP1 PLCB3 ESRRA TRPT1 NUDT22 GPR137 FKBP2 VEGFB LOC105369340 FERMT3 PPP1R14B PRDX5
nsv832186	Chr.11:64204788 - 64402587 on Build GRCh38	Loss	DNAJC4 TEX40 BAD KCNK4 KCNK4-TEX40 TRMT112 PLCB3 ESRRA TRPT1 CCDC88B NUDT22 GPR137 FKBP2 MIR1237 VEGFB LOC105369340 FERMT3 MIR7155 PPP1R14B PRDX5 RPS6KA4
nsv469961	Chr.11:64055468 - 64318495 on Build GRCh38	Loss	DNAJC4 TEX40 BAD KCNK4 KCNK4-TEX40 TRMT112 STIP1 PLCB3 ESRRA TRPT1 NUDT22 GPR137 FKBP2 VEGFB LOC105369340 FERMT3 PPP1R14B FLRT1 MACROD1 PRDX5
nsv357	Chr.11:64284335 - 64308789 on Build GRCh38	Insertion	TEX40 BAD KCNK4 KCNK4-TEX40 ESRRA GPR137

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
regulation of transcription, DNA-templated
transcription initiation from RNA polymerase II promoter
mitochondrion organization
intracellular receptor signaling pathway
response to estradiol
regulation of cell proliferation
steroid hormone mediated signaling pathway
regulation of osteoblast differentiation
regulation of osteoclast differentiation
positive regulation of transcription from RNA polymerase II promoter
cartilage development
positive regulation of cellular response to insulin stimulus

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
DNA binding
steroid hormone receptor activity
RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding
steroid binding
protein binding
zinc ion binding
protein domain specific binding
sequence-specific DNA binding