Hs02931772_cn

• Gene Symbol: ESRRA
• Assay Reference Genome Location: Chr.11:64307504 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: Overlaps Exon 3 - Intron 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			XP_016872802.1
	BC007915.2			AAH07915.2
	BC063795.1
	BC073956.1			AAH73956.1
	BC092470.1			AAH92470.1
	BC093720.1			AAH93720.1
	BC093722.1			AAH93722.1
	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	TRMT112 GPR137 PLCB3 LOC105369340 KCNK4-TEX40 MIR7155 MACROD1 FKBP2 COX8A PPP1R14B TRPT1 NUDT22 FLRT1 KCNK4 CCDC88B FERMT3 ESRRA BAD VEGFB NAA40 STIP1 PRDX5 DNAJC4 TEX40 OTUB1
dgv1963n54	Chr.11:64174262 - 64329761 on Build GRCh38	Loss	KCNK4 TRMT112 FERMT3 ESRRA GPR137 PLCB3 BAD LOC105369340 KCNK4-TEX40 VEGFB STIP1 PRDX5 DNAJC4 TEX40 FKBP2 PPP1R14B TRPT1 NUDT22
nsv832186	Chr.11:64204788 - 64402587 on Build GRCh38	Loss	KCNK4 CCDC88B TRMT112 FERMT3 ESRRA GPR137 PLCB3 BAD LOC105369340 KCNK4-TEX40 MIR1237 VEGFB PRDX5 MIR7155 DNAJC4 TEX40 FKBP2 PPP1R14B RPS6KA4 TRPT1 NUDT22
nsv469961	Chr.11:64055468 - 64318495 on Build GRCh38	Loss	KCNK4 TRMT112 FERMT3 ESRRA GPR137 PLCB3 BAD LOC105369340 KCNK4-TEX40 VEGFB STIP1 PRDX5 DNAJC4 TEX40 MACROD1 FKBP2 PPP1R14B TRPT1 NUDT22 FLRT1
nsv357	Chr.11:64284335 - 64308789 on Build GRCh38	Insertion	KCNK4 TEX40 ESRRA GPR137 BAD KCNK4-TEX40

More Information

• Set Membership: Intragenic, Non-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