Hs02349075_cn

• Gene Symbol: DOHH
• Assay Reference Genome Location: Chr.19:3496801 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 83475
• Gene Name: deoxyhypusine hydroxylase/monooxygenase
• Gene Aliases: HLRC1, hDOHH
• Location: Chr.19:3490821-3500940 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DOHH	NM_001145165.1	2	466	NP_001138637.1
	NM_031304.4	2	177	NP_112594.1
	XM_011528341.2	2	174	XP_011526643.1
	BC002817.2	2	177	AAH02817.1
	BC009863.2	1	66	AAH09863.1
	BG491509.1	2	439

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv953948	Chr.19:3171703 - 3700002 on Build GRCh38	Deletion	TBXA2R C19orf71 HMG20B CACTIN-AS1 GIPC3 SMIM24 NCLN CELF5 PIP5K1C NFIC S1PR4 FZR1 CACTIN MFSD12 DOHH
nsv470114	Chr.19:3372516 - 3855979 on Build GRCh38	Loss	TBXA2R C19orf71 HMG20B CACTIN-AS1 GIPC3 SMIM24 MATK PIP5K1C RAX2 TJP3 NFIC FZR1 CACTIN ZFR2 APBA3 MFSD12 MRPL54 DOHH

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

lyase

Gene Ontology Categories:

Process(es)

peptidyl-lysine modification to peptidyl-hypusine
oxidation-reduction process

Function(s)

protein binding
deoxyhypusine monooxygenase activity
metal ion binding