Hs02071909_cn

• Gene Symbol: DIO3
• Assay Reference Genome Location: Chr.14:101562866 on build GRCh38
• Cytoband: 14q32.31

Target Gene Details

• Entrez Gene ID: 1735
• Gene Name: deiodinase, iodothyronine, type III
• Gene Aliases: 5DIII, D3, DIOIII, TXDI3
• Location: Chr.14:101561351-101563452 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DIO3	NM_001362.3	1	1516	NP_001353.4
	BC017717.1	1	1364	AAH17717.2
	BX161470.1	1	1516	CAD61926.1
	S79854.1	2	1472	AAB35616.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1047869	Chr.14:101506888 - 101624595 on Build GRCh38	Gain	DIO3OS MIR1247 DIO3
nsv565882	Chr.14:101560397 - 101562940 on Build GRCh38	Loss	MIR1247 DIO3
nsv827060	Chr.14:101559113 - 101566443 on Build GRCh38	Gain	MIR1247 DIO3
nsv952247	Chr.14:101543464 - 101564963 on Build GRCh38	Deletion	DIO3OS MIR1247 DIO3
nsv565880	Chr.14:101539186 - 101625954 on Build GRCh38	Loss	DIO3OS MIR1247 DIO3
dgv1978n100	Chr.14:101504179 - 101603185 on Build GRCh38	Gain	DIO3OS MIR1247 DIO3
esv3635530	Chr.14:101562410 - 101628188 on Build GRCh38	Gain	DIO3
dgv388n67	Chr.14:101556368 - 101565620 on Build GRCh38	Gain	MIR1247 DIO3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

thyroid hormone generation
biological_process
positive regulation of multicellular organism growth
thyroid hormone catabolic process
hormone biosynthetic process
oxidation-reduction process

Function(s)

thyroxine 5'-deiodinase activity
thyroxine 5-deiodinase activity