Hs01682913_cn

• Gene Symbol: POMP
• Assay Reference Genome Location: Chr.13:28678065 on build GRCh38
• Cytoband: 13q12.3

Target Gene Details

• Entrez Gene ID: 51371
• Gene Name: proteasome maturation protein
• Gene Aliases: C13orf12, HSPC014, PNAS-110, UMP1
• Location: Chr.13:28659004-28678957 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POMP	NM_015932.5			NP_057016.1
	AF077200.1			AAD26995.1
	AF125097.1			AAD39914.1
	AF262975.1			AAK58521.1
	AF275807.1			AAG23819.1
	AK312118.1
	BC003390.1			AAH03390.1
	BC014334.1			AAH14334.1
	EF535527.1
	GU045555.1
	GU045556.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832571	Chr.13:28675794 - 28845425 on Build GRCh38	Loss	POMP SLC46A3 MTUS2 LOC105370138

More Information

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

Panther Classification:

Molecular Function -

chaperone

Gene Ontology Categories:

Process(es)

proteasome assembly

Function(s)

protein binding