Hs02039470_cn

• Gene Symbol: DOHH
• Assay Reference Genome Location: Chr.19:3491330 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 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DOHH	NM_001145165.1	5	1523	NP_001138637.1
	NM_031304.4	5	1234	NP_112594.1
	BC002817.2	5	1234	AAH02817.1
	BC009863.2	4	1123	AAH09863.1
	BU624567.1	1	523

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv526602	Chr.19:3452685 - 3491370 on Build GRCh38	Loss	NFIC DOHH SMIM24
nsv953948	Chr.19:3171703 - 3700002 on Build GRCh38	Deletion	CACTIN NFIC DOHH SMIM24 PIP5K1C CELF5 CACTIN-AS1 GIPC3 NCLN TBXA2R FZR1 HMG20B S1PR4 C19orf71 MFSD12
nsv470114	Chr.19:3372516 - 3855979 on Build GRCh38	Loss	CACTIN TJP3 NFIC ZFR2 MATK DOHH SMIM24 APBA3 PIP5K1C RAX2 CACTIN-AS1 GIPC3 TBXA2R FZR1 HMG20B C19orf71 MFSD12 MRPL54

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