Hs03906004_cn

• Gene Symbol: DUOXA1
• Assay Reference Genome Location: Chr.15:45127541 on build GRCh38
• Cytoband: 15q21.1

Target Gene Details

• Entrez Gene ID: 90527
• Gene Name: dual oxidase maturation factor 1
• Gene Aliases: NIP, NUMBIP, mol
• Location: Chr.15:45117366-45129938 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DUOXA1	NM_001276264.1			NP_001263193.1
	NM_001276267.1			NP_001263196.1
	NM_001276268.1			NP_001263197.1
	NM_144565.3			NP_653166.2
	XM_006720743.3			XP_006720806.1
	XM_006720745.1			XP_006720808.1
	XM_006720746.1			XP_006720809.1
	XM_006720747.3			XP_006720810.1
	XM_006720749.1			XP_006720812.1
	XM_006720751.3			XP_006720814.1
	XM_006720752.3			XP_006720815.2
	XM_006720754.1			XP_006720817.1
	XM_006720755.1			XP_006720818.1
	XM_011522181.2			XP_011520483.1
	XM_011522182.1			XP_011520484.1
	XM_011522183.2			XP_011520485.1
	XM_011522184.1			XP_011520486.1
	XM_011522185.1			XP_011520487.1
	XM_011522186.2			XP_011520488.1
	AK056896.1			BAB71304.1
	AK292771.1
	BC020841.1			AAH20841.1
	BC029819.1			AAH29819.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv569312	Chr.15:45089800 - 45168224 on Build GRCh38	Loss	DUOX2 DUOXA2 SHF DUOX1 DUOXA1
esv1002924	Chr.15:45120086 - 45132601 on Build GRCh38	Deletion	DUOX1 DUOXA1
nsv569313	Chr.15:45121343 - 45165260 on Build GRCh38	Gain	DUOX1 DUOXA1
esv2760029	Chr.15:44676670 - 45130644 on Build GRCh38	Gain+Loss	DUOX2 DUOXA2 LOC100419583 TERB2 DUOX1 SORD PATL2 TRIM69 DUOXA1 B2M

More Information

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

Panther Classification:

Molecular Function -

oxidase, oxidoreductase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

protein transport
hydrogen peroxide metabolic process
positive regulation of neuron differentiation
regulation of inflammatory response
positive regulation of reactive oxygen species metabolic process
regulation of thyroid hormone generation