Hs02638150_cn

• Gene Symbol: ESRRA
• Assay Reference Genome Location: Chr.11:64316730 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 8

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
	BC011528.1			AAH11528.1
	BC033701.1			AAH33701.1
	BC063795.1
	BC073956.1			AAH73956.1
	BC092470.1			AAH92470.1
	L38487.1			AAB17015.1

Target Gene Details

• Entrez Gene ID: 51504
• Gene Name: tRNA methyltransferase 11-2 homolog (S. cerevisiae)
• Gene Aliases: HSPC152, HSPC170, TRM112, TRMT11-2, hTrm112
• Location: Chr.11:64316492-64318084 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TRMT112	NM_001286082.1	4	1052	NP_001273011.1
	NM_001286084.1	3	1156	NP_001273013.1
	NM_016404.2	4	1067	NP_057488.1
	AF110774.1			AAF14857.1
	AF161501.1			AAF29116.1
	AF229068.1			AAF82266.1
	BC017172.2			AAH17172.1
	BC029482.2			AAH29482.1
	BC105294.1			AAI05295.1
	BE791577.1
	CB054126.1	2	312
	CN362692.1

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	TRPT1 VEGFB FKBP2 GPR137 MACROD1 PLCB3 ESRRA COX8A CCDC88B OTUB1 TRMT112 NUDT22 TEX40 FERMT3 FLRT1 PRDX5 KCNK4 KCNK4-TEX40 MIR7155 DNAJC4 STIP1 PPP1R14B BAD LOC105369340 NAA40
dgv1963n54	Chr.11:64174262 - 64329761 on Build GRCh38	Loss	NUDT22 TRPT1 TEX40 FERMT3 VEGFB FKBP2 GPR137 PRDX5 KCNK4 KCNK4-TEX40 DNAJC4 PLCB3 ESRRA STIP1 PPP1R14B BAD LOC105369340 TRMT112
nsv832186	Chr.11:64204788 - 64402587 on Build GRCh38	Loss	NUDT22 TRPT1 TEX40 FERMT3 VEGFB FKBP2 RPS6KA4 GPR137 PRDX5 KCNK4 KCNK4-TEX40 MIR7155 DNAJC4 PLCB3 ESRRA CCDC88B PPP1R14B BAD MIR1237 LOC105369340 TRMT112
nsv469961	Chr.11:64055468 - 64318495 on Build GRCh38	Loss	NUDT22 TRPT1 TEX40 FERMT3 FLRT1 VEGFB FKBP2 GPR137 PRDX5 KCNK4 KCNK4-TEX40 DNAJC4 MACROD1 PLCB3 ESRRA STIP1 PPP1R14B BAD LOC105369340 TRMT112

More Information

• Set Membership: Intragenic, Exonic, 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
translational termination
peptidyl-glutamine methylation
tRNA methylation
rRNA methylation
methylation
rRNA (guanine-N7)-methylation

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
protein methyltransferase activity