Hs01721634_cn

• Gene Symbol: MPI
• Assay Reference Genome Location: Chr.15:74897983 on build GRCh38
• Cytoband: 15q24.1

Target Gene Details

• Entrez Gene ID: 4351
• Gene Name: mannose phosphate isomerase
• Gene Aliases: CDG1B, PMI, PMI1
• Location: Chr.15:74890011-74899457 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MPI	NM_001289155.1	7	1379	NP_001276084.1
	NM_001289156.1	7	1460	NP_001276085.1
	NM_001289157.1	7	1405	NP_001276086.1
	NM_002435.2	8	1588	NP_002426.1
	XM_011521592.1	8	1664	XP_011519894.1
	XM_011521593.2	8	1646	XP_011519895.1
	XM_017022207.1	7	1459	XP_016877696.1
	XM_017022208.1	7	1437	XP_016877697.1
	XM_017022209.1	6	1226	XP_016877698.1
	AF504648.1	7	1344	AAM28199.1
	AK096520.1	1	2550
	AK225149.1	8	1145
	AK301370.1	7	1429
	BC017351.2	7	1354	AAH17351.1
	BC046357.1	8	1543	AAH46357.1
	BX648475.1	7	1356
	X76057.1	8	1530	CAA53657.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1121512	Chr.15:72670085 - 75273877 on Build GRCh38	Deletion	ARID3B PML BBS4 LOC105376731 LOXL1 HIGD2B REC114 C15orf59-AS1 CLK3 LMAN1L GOLGA6C COX5A HCN4 SEMA7A LOC102723750 LOC732265 ISLR NPTN CYP1A1 CYP1A2 UBL7-AS1 NEO1 EDC3 ISLR2 MIR6882 CPLX3 LOC283731 LOC729739 ADPGK PPCDC CCDC33 TBC1D21 CD276 FAM219B MIR6881 LOC101929333 C15orf59 LOXL1-AS1 STRA6 NPTN-IT1 ADPGK-AS1 MPI CYP11A1 MIR4513 SCAMP2 SCAMP5 C15orf39 STOML1 LOC107984728 GOLGA6A RPP25 CSK UBL7 ULK3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

isomerase

Gene Ontology Categories:

Process(es)

GDP-mannose biosynthetic process
mannose to fructose-6-phosphate metabolic process

Function(s)

mannose-6-phosphate isomerase activity
zinc ion binding