Hs03478602_cn

• Gene Symbol: HEG1
• Assay Reference Genome Location: Chr.3:124979374 on build GRCh38
• Cytoband: 3q21.2

Target Gene Details

• Entrez Gene ID: 57493
• Gene Name: heart development protein with EGF like domains 1
• Gene Aliases: HEG, MST112, MSTP112
• Location: Chr.3:124965710-125055958 on Build GRCh38
• Assay Gene Location: Within Intron 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HEG1	NM_020733.1			NP_065784.1
	XM_005247666.1			XP_005247723.1
	AB033063.2			BAA86551.2
	AK074987.1			BAC11336.1
	BC004539.2			AAH04539.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1160974	Chr.3:124577493 - 125300995 on Build GRCh38	Duplication	SLC12A8 KALRN ZNF148 UMPS HEG1 MIR544B MUC13 MIR5092 ITGB5
nsv1001677	Chr.3:124015843 - 125108694 on Build GRCh38	Loss	SLC12A8 KALRN UMPS HEG1 MIR6083 MIR544B MUC13 MIR5002 ITGB5

More Information

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

Gene Ontology Categories:

Process(es)

vasculogenesis
in utero embryonic development
endothelial cell morphogenesis
lymph vessel development
lymph circulation
cardiac atrium morphogenesis
ventricular trabecula myocardium morphogenesis
ventricular septum development
cell-cell junction assembly
post-embryonic development
lung development
multicellular organism growth
venous blood vessel morphogenesis
regulation of body fluid levels
cardiac muscle tissue growth
pericardium development
positive regulation of fibroblast growth factor production

Function(s)

calcium ion binding