Hs01562012_cn

• Gene Symbol: EGLN1
• Assay Reference Genome Location: Chr.1:231366462 on build GRCh38
• Cytoband: 1q42.2

Target Gene Details

• Entrez Gene ID: 54583
• Gene Name: egl-9 family hypoxia inducible factor 1
• Gene Aliases: C1orf12, ECYT3, HALAH, HIF-PH2, HIFPH2, HPH-2, HPH2, PHD2, SM20, ZMYND6
• Location: Chr.1:231363751-231425044 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EGLN1	NM_022051.2			NP_071334.1
	XM_005273166.4			XP_005273223.1
	XM_005273167.4			XP_005273224.1
	AF229245.1			AAG33965.1
	AF277174.1			AAK07534.1
	AJ310543.1			CAC42509.1
	AL833885.1			CAD38741.2
	BC005369.1			AAH05369.1
	DQ975380.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv945371	Chr.1:231365816 - 231366427 on Build GRCh38	Duplication	EGLN1

More Information

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

Gene Ontology Categories:

Process(es)

response to hypoxia
peptidyl-proline hydroxylation to 4-hydroxy-L-proline
negative regulation of cAMP catabolic process
oxygen homeostasis
negative regulation of sequence-specific DNA binding transcription factor activity
regulation of angiogenesis
negative regulation of cyclic-nucleotide phosphodiesterase activity
cardiac muscle tissue morphogenesis
oxidation-reduction process
heart trabecula formation
ventricular septum morphogenesis
labyrinthine layer development
regulation of transcription from RNA polymerase II promoter in response to hypoxia
response to nitric oxide

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
enzyme binding
L-ascorbic acid binding
peptidyl-proline dioxygenase activity
peptidyl-proline 4-dioxygenase activity