Hs03470786_cn

• Gene Symbol: HEG1
• Assay Reference Genome Location: Chr.3:124968402 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 Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HEG1	NM_020733.1	17	6464	NP_065784.1
	XM_005247666.1	18	6759	XP_005247723.1
	AB033063.2	16	6059	BAA86551.2
	AF173887.1	1	1609	AAQ13634.1
	AK074987.1	7	3050	BAC11336.1

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	HEG1 ZNF148 MIR544B MUC13 SLC12A8 ITGB5 MIR5092 UMPS KALRN
nsv1001677	Chr.3:124015843 - 125108694 on Build GRCh38	Loss	HEG1 MIR544B MUC13 SLC12A8 MIR5002 ITGB5 MIR6083 UMPS KALRN

More Information

• Set Membership: Intragenic, 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