Hs01255243_cn

• Gene Symbol: DIO1
• Assay Reference Genome Location: Chr.1:53911014 on build GRCh38
• Cytoband: 1p32.3

Target Gene Details

• Entrez Gene ID: 1733
• Gene Name: deiodinase, iodothyronine type I
• Gene Aliases: 5DI, TXDI1
• Location: Chr.1:53894187-53911086 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DIO1	NM_000792.6			NP_000783.2
	NM_001039715.2			NP_001034804.1
	NM_001039716.2			NP_001034805.1
	NM_001324316.1			NP_001311245.1
	NM_213593.4			NP_998758.1
	NR_136692.1
	NR_136693.1
	AW294928.1
	BC017955.1			AAH17955.2
	BE046205.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1011262	Chr.1:53542956 - 54106304 on Build GRCh38	Gain	LRRC42 TMEM59 LDLRAD1 HSPB11 MIR4781 GLIS1 TCEANC2 DIO1 NDC1 YIPF1

More Information

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

Gene Ontology Categories:

Process(es)

thyroid hormone generation
hormone biosynthetic process
oxidation-reduction process

Function(s)

thyroxine 5'-deiodinase activity
selenium binding