Hs02498367_cn

• Gene Symbol: ESRRG
• Assay Reference Genome Location: Chr.1:216506225 on build GRCh38
• Cytoband: 1q41

Target Gene Details

• Entrez Gene ID: 2104
• Gene Name: estrogen related receptor gamma
• Gene Aliases: ERR3, ERRgamma, NR3B3
• Location: Chr.1:216503246-217137757 on Build GRCh38
• Assay Gene Location: Within Exon 27

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ESRRG	NM_001134285.2	9	2340	NP_001127757.1
	NM_001243505.1	7	1780	NP_001230434.1
	NM_001243506.1	7	1850	NP_001230435.1
	NM_001243507.1	8	2627	NP_001230436.1
	NM_001243509.1	9	2718	NP_001230438.1
	NM_001243510.2	9	2334	NP_001230439.1
	NM_001243511.2	8	2216	NP_001230440.1
	NM_001243512.1	9	2283	NP_001230441.1
	NM_001243513.1	8	2303	NP_001230442.1
	NM_001243514.1	7	2460	NP_001230443.1
	NM_001243515.1	9	2559	NP_001230444.1
	NM_001243518.1	8	2413	NP_001230447.1
	NM_001243519.1	9	2563	NP_001230448.1
	NM_001438.3	7	2264	NP_001429.2
	NM_206594.2	9	2384	NP_996317.1
	NM_206595.2	8	2266	NP_996318.1
	XM_011509265.2	9	6348	XP_011507567.1
	XM_011509266.2	9	2721	XP_011507568.1
	XM_011509267.1	10	2665	XP_011507569.1
	XM_011509268.2	9	2550	XP_011507570.1
	XM_011509269.2	7	2149	XP_011507571.1
	XM_011509270.1	7	2437	XP_011507572.1
	XM_011509271.2	8	2430	XP_011507573.1
	XM_011509274.1	9	2458	XP_011507576.1
	XM_011509275.1	9	2414	XP_011507577.1
	XM_011509276.1	9	2573	XP_011507578.1
	XM_011509277.1	8	2265	XP_011507579.1
	XM_011509278.1	8	2296	XP_011507580.1
	XM_011509279.1	8	2441	XP_011507581.1
	XM_011509280.2	8	2418	XP_011507582.1
	XM_017000621.1	10	6506	XP_016856110.1
	XM_017000622.1	9	2738	XP_016856111.1
	XM_017000623.1	9	2698	XP_016856112.1
	XM_017000624.1	9	5064	XP_016856113.1
	XM_017000625.1	9	2601	XP_016856114.1
	XM_017000626.1	9	2458	XP_016856115.1
	XM_017000627.1	9	2521	XP_016856116.1
	XM_017000628.1	11	2750	XP_016856117.1
	XM_017000629.1	8	2294	XP_016856118.1
	XM_017000630.1	11	2796	XP_016856119.1
	XM_017000631.1	10	2543	XP_016856120.1
	XM_017000632.1	11	2722	XP_016856121.1
	XM_017000633.1	9	2383	XP_016856122.1
	XM_017000634.1	9	2425	XP_016856123.1
	XM_017000635.1	11	5500	XP_016856124.1
	XM_017000636.1	10	2569	XP_016856125.1
	XM_017000637.1	10	2670	XP_016856126.1
	XM_017000638.1	10	2522	XP_016856127.1
	XM_017000639.1	9	2362	XP_016856128.1
	XM_017000640.1	8	4625	XP_016856129.1
	XM_017000641.1	8	2420	XP_016856130.1
	XM_017000642.1	9	2518	XP_016856131.1
	XM_017000643.1	10	2515	XP_016856132.1
	XM_017000644.1	9	2393	XP_016856133.1
	XM_017000645.1	8	2275	XP_016856134.1
	XM_017000646.1	9	4758	XP_016856135.1
	XM_017000647.1	8	2507	XP_016856136.1
	XM_017000648.1	8	2396	XP_016856137.1
	XM_017000649.1	10	2844	XP_016856138.1
	AB020639.1	7	2245
	AF058291.1	8	2240	AAC39899.1
	AF094518.1	7	2216	AAC99410.1
	AK131193.1	8	2588
	AY388456.1	7	2219	AAQ93376.1
AY388457.1	8	2252	AAQ93377.1
AY388458.1	9	2278	AAQ93378.1
AY388459.1	8	2295	AAQ93379.1
AY388460.1	7	2135	AAQ93380.1
AY388461.1	7	2509	AAQ93381.1
BC064700.1	8	2394	AAH64700.1
BX647076.1	9	2340
CR749497.1	9	2333	CAH18320.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv549199	Chr.1:216211566 - 216641360 on Build GRCh38	Gain	USH2A ESRRG
nsv1011849	Chr.1:216495039 - 216527821 on Build GRCh38	Gain	ESRRG

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of transcription, DNA-templated
transcription initiation from RNA polymerase II promoter
steroid hormone mediated signaling pathway
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
retinoic acid receptor signaling pathway

Function(s)

RNA polymerase II regulatory region sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
steroid hormone receptor activity
retinoic acid receptor activity
steroid binding
protein binding
zinc ion binding
AF-2 domain binding