Hs06668298_cn

• Gene Symbol: EGOT
• Assay Reference Genome Location: Chr.3:4750053 on build GRCh38
• Cytoband: 3p26.1

Target Gene Details

• Entrez Gene ID: 100126791
• Gene Name: eosinophil granule ontogeny transcript (non-protein coding)
• Gene Aliases: EGO, NCRNA00190
• Location: Chr.3:4749192-4751590 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EGOT	NR_004428.1

Target Gene Details

• Entrez Gene ID: 3708
• Gene Name: inositol 1,4,5-trisphosphate receptor type 1
• Gene Aliases: ACV, CLA4, INSP3R1, IP3R, IP3R1, PPP1R94, SCA15, SCA16, SCA29
• Location: Chr.3:4493348-4847840 on Build GRCh38
• Assay Gene Location: Within Intron 45

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ITPR1	NM_001099952.2			NP_001093422.2
	NM_001168272.1			NP_001161744.1
	NM_002222.5			NP_002213.5
	XM_005265109.2			XP_005265166.1
	XM_005265110.2			XP_005265167.1
	XM_006713131.2			XP_006713194.1
	XM_011533681.1			XP_011531983.1
	XM_011533682.2			XP_011531984.1
	XM_011533683.2			XP_011531985.1
	XM_011533684.1			XP_011531986.1
	XM_011533685.1			XP_011531987.1
	XM_011533686.1			XP_011531988.1
	XM_011533687.1			XP_011531989.1
	XM_011533688.1			XP_011531990.1
	XM_011533690.1			XP_011531992.1
	XM_011533691.1			XP_011531993.1
	XM_017006357.1			XP_016861846.1
	AB208868.1			BAD92105.1
	BC144563.1
	D26070.1			BAA05065.1
	L38019.2			AAB04947.2
	U23850.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv589454	Chr.3:4656425 - 4751836 on Build GRCh38	Loss	ITPR1 EGOT
nsv1005718	Chr.3:4722315 - 5046200 on Build GRCh38	Gain	ITPR1 BHLHE40-AS1 EGOT BHLHE40
esv3893643	Chr.3:4529987 - 4974421 on Build GRCh38	Loss	ITPR1 BHLHE40-AS1 EGOT

More Information

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

Panther Classification:

Molecular Function -

ligand-gated ion channel

Gene Ontology Categories:

Process(es)

response to hypoxia
calcium ion transport
signal transduction
post-embryonic development
regulation of autophagy
platelet activation
endoplasmic reticulum calcium ion homeostasis
epithelial fluid transport
inositol phosphate-mediated signaling
regulation of insulin secretion
negative regulation of calcium-mediated signaling
voluntary musculoskeletal movement
release of sequestered calcium ion into cytosol
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
regulation of cardiac conduction

Function(s)

inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
protein binding
calcium ion transmembrane transporter activity
calcium-release channel activity
calcium channel inhibitor activity
phosphatidylinositol binding