Hs02304228_cn

• Gene Symbol: EGLN3
• Assay Reference Genome Location: Chr.14:33924797 on build GRCh38
• Cytoband: 14q13.1

Target Gene Details

• Entrez Gene ID: 112399
• Gene Name: egl-9 family hypoxia inducible factor 3
• Gene Aliases: HIFP4H3, HIFPH3, PHD3
• Location: Chr.14:33924215-33951078 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EGLN3	NM_001308103.1	5	1606	NP_001295032.1
	NM_022073.3	5	2140	NP_071356.1
	AJ310545.1	5	2140	CAC42511.1
	AK025273.1	5	2140	BAB15101.1
	AK026918.1	2	1178
	BX091357.1	1	571

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1036996	Chr.14:33834296 - 34189902 on Build GRCh38	Gain	EGLN3-AS1 EGLN3
esv34070	Chr.14:33763566 - 34160397 on Build GRCh38	Loss	EGLN3-AS1 NPAS3 EGLN3
nsv832768	Chr.14:33887269 - 34082696 on Build GRCh38	Gain	EGLN3-AS1 EGLN3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

response to hypoxia
apoptotic process
activation of cysteine-type endopeptidase activity involved in apoptotic process
cellular response to DNA damage stimulus
protein hydroxylation
peptidyl-proline hydroxylation to 4-hydroxy-L-proline
regulation of cell proliferation
regulation of neuron apoptotic process
oxidation-reduction process
regulation of transcription from RNA polymerase II promoter in response to hypoxia

Function(s)

iron ion binding
protein binding
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
L-ascorbic acid binding
peptidyl-proline 4-dioxygenase activity