Hs06619054_cn

• Gene Symbol: UMPS
• Assay Reference Genome Location: Chr.3:124734466 on build GRCh38
• Cytoband: 3q21.2

Target Gene Details

• Entrez Gene ID: 7372
• Gene Name: uridine monophosphate synthetase
• Gene Aliases: OPRT
• Location: Chr.3:124730366-124749273 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UMPS	NM_000373.3			NP_000364.1
	NR_033434.1
	NR_033437.1
	AB062285.1			BAB93468.1
	AK291306.1
	AL080099.2			CAB45710.3
	BC000364.2			AAH00364.1
	BC007511.2			AAH07511.1
	CR456787.1			CAG33068.1
	D86227.1			BAA19920.1
	D86228.1			BAA19921.1
	D86230.1			BAA19923.1
	EU921886.1
	EU921887.1
	EU921888.1
	EU921889.1
	EU921890.1
	EU921891.1
	EU921892.1
	EU921893.1
	EU921894.1
	EU921895.1
	J03626.1			AAA61255.1
	KU178375.1
	KU178376.1
	M36661.1			AAA61256.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1012242	Chr.3:124722848 - 124797029 on Build GRCh38	Gain	ITGB5 KALRN MIR544B UMPS
nsv1160974	Chr.3:124577493 - 125300995 on Build GRCh38	Duplication	HEG1 ITGB5 KALRN ZNF148 MIR5092 MUC13 SLC12A8 MIR544B UMPS
nsv1001677	Chr.3:124015843 - 125108694 on Build GRCh38	Loss	MIR5002 HEG1 ITGB5 KALRN MIR6083 MUC13 SLC12A8 MIR544B UMPS

More Information

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

Panther Classification:

Molecular Function -

transferase

Gene Ontology Categories:

Process(es)

'de novo' pyrimidine nucleobase biosynthetic process
UMP biosynthetic process
female pregnancy
lactation
cellular response to drug
'de novo' UMP biosynthetic process
pyrimidine nucleoside biosynthetic process

Function(s)

orotate phosphoribosyltransferase activity
orotidine-5'-phosphate decarboxylase activity