Hs03942548_cn

• Gene Symbol: MVD
• Assay Reference Genome Location: Chr.16:88653976 on build GRCh38
• Cytoband: 16q24.2

Target Gene Details

• Entrez Gene ID: 4597
• Gene Name: mevalonate diphosphate decarboxylase
• Gene Aliases: FP17780, MDDase, MPD, POROK7
• Location: Chr.16:88651935-88663153 on Build GRCh38
• Assay Gene Location: Within Intron 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MVD	NM_002461.2			NP_002452.1
	XM_011523086.2			XP_011521388.1
	XM_011523087.2			XP_011521389.1
	XM_011523088.2			XP_011521390.1
	XM_011523089.2			XP_011521391.1
	AY203927.1			AAP34450.1
	BC000011.2			AAH00011.1
	BT006930.1			AAP35576.1
	U49260.1			AAC50440.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1926	Chr.16:88626290 - 88660544 on Build GRCh38	Insertion	IL17C CYBA MVD ZC3H18
nsv471113	Chr.16:88650665 - 88764428 on Build GRCh38	Loss	CYBA LOC100289580 MIR4722 SNAI3 MVD PIEZO1 LOC339059 SNAI3-AS1 CTU2 RNF166
esv3639554	Chr.16:88641322 - 88654848 on Build GRCh38	Loss	CYBA MVD
nsv833325	Chr.16:88553738 - 88698194 on Build GRCh38	Loss	IL17C CYBA SNAI3 MVD SNAI3-AS1 ZC3H18-AS1 RNF166 ZC3H18
nsv952070	Chr.16:88257295 - 88780192 on Build GRCh38	Deletion	ZNF469 CYBA LOC100289580 LOC107984862 SNAI3 PIEZO1 LOC339059 SNAI3-AS1 ZC3H18-AS1 IL17C MIR4722 MIR5189 MVD CTU2 RNF166 ZC3H18 ZFPM1
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	LOC105371419 CDH15 MC1R TRAPPC2L LOC101927793 CENPBD1 SPATA2L IL17C SPIRE2 VPS9D1-AS1 AFG3L1P DPEP1 GALNS LOC105371414 TCF25 ZNF276 LOC105371409 CBFA2T3 TUBB8P7 SPATA33 LOC400558 CHMP1A DEF8 MIR4722 VPS9D1 CDT1 PRDM7 CYBA LOC100289580 URAHP DBNDD1 FAM157C LOC107987238 SNAI3 GAS8-AS1 PIEZO1 LOC339059 TUBB3 SPG7 APRT LOC107984817 LOC101927817 MVD CTU2 RNF166 LINC00304 LOC100287036 RPL13 ACSF3 LOC100129697 SLC22A31 ZNF778 PABPN1L SNAI3-AS1 ANKRD11 CDK10 FANCA SNORD68 CPNE7 GAS8

More Information

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

Panther Classification:

Molecular Function -

decarboxylase, lyase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

dolichyl diphosphate biosynthetic process
cholesterol biosynthetic process
positive regulation of cell proliferation
isoprenoid biosynthetic process
isopentenyl diphosphate biosynthetic process, mevalonate pathway

Function(s)

diphosphomevalonate decarboxylase activity
ATP binding
Hsp70 protein binding
protein homodimerization activity