Hs00116386_cn

• Gene Symbol: GBA
• Assay Reference Genome Location: Chr.1:155239803 on build GRCh38
• Cytoband: 1q22

Target Gene Details

• Entrez Gene ID: 2629
• Gene Name: glucosylceramidase beta
• Gene Aliases: GBA1, GCB, GLUC
• Location: Chr.1:155234448-155244862 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GBA	NM_000157.3			NP_000148.2
	NM_001005741.2			NP_001005741.1
	NM_001005742.2			NP_001005742.1
	NM_001171811.1			NP_001165282.1
	NM_001171812.1			NP_001165283.1
	AK291911.1
	AK298900.1
	AK300186.1
	AK300829.1
	AK300876.1
	AK301374.1
	AK301879.1
	AK302000.1
	AK311242.1
	AK312502.1
	AL547558.3
	AU122729.1
	AU131071.1
	AU140959.1
	AU141794.1
	BC003356.1			AAH03356.1
	BI458641.1
	BX382279.2
	BX648487.1
	D13286.1			BAA02545.1
	DC297079.1
	K02920.1			AAA35877.1
	KJ690771.1
	KJ690772.1
	KJ690773.1
	M16328.1			AAA35873.1
	M19285.1			AAA35880.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470741	Chr.1:155142784 - 155260340 on Build GRCh38	Loss	KRTCAP2 GBA TRIM46 MUC1 GBAP1 MTX1 THBS3 SCAMP3 MIR92B FAM189B
esv3578198	Chr.1:155211057 - 155241863 on Build GRCh38	Loss	GBA GBAP1 MTX1
esv28935	Chr.1:155210698 - 155251452 on Build GRCh38	Gain	GBA GBAP1 MTX1 FAM189B
nsv1161687	Chr.1:155210675 - 155241876 on Build GRCh38	Deletion	GBA GBAP1 MTX1
nsv8480	Chr.1:155236544 - 155244745 on Build GRCh38	Gain	GBA
nsv1011773	Chr.1:155219357 - 155265030 on Build GRCh38	Gain	GBA GBAP1 CLK2 SCAMP3 FAM189B
dgv3n68	Chr.1:155122502 - 155343618 on Build GRCh38	Loss	RUSC1 MUC1 PKLR DPM3 ASH1L THBS3 FDPS MIR92B FAM189B KRTCAP2 HCN3 LOC105371451 GBA EFNA1 TRIM46 SLC50A1 RUSC1-AS1 GBAP1 MTX1 CLK2 SCAMP3

More Information

Additional Information:

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

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process
glucosylceramide catabolic process
glycosphingolipid metabolic process
cellular response to starvation
response to pH
positive regulation of macroautophagy
regulation of macroautophagy
termination of signal transduction
regulation of proteasomal ubiquitin-dependent protein catabolic process
negative regulation of interleukin-6 production
regulation of water loss via skin
response to testosterone
positive regulation of protein dephosphorylation
negative regulation of MAP kinase activity
skin morphogenesis
response to estrogen
sphingosine biosynthetic process
ceramide biosynthetic process
negative regulation of inflammatory response
response to glucocorticoid
cellular response to tumor necrosis factor
response to thyroid hormone
positive regulation of proteolysis involved in cellular protein catabolic process

Function(s)

glucosylceramidase activity
receptor binding
protein binding