Hs00575525_cn

• Gene Symbol: CTSB
• Assay Reference Genome Location: Chr.8:11847085 on build GRCh38
• Cytoband: 8p23.1

Target Gene Details

• Entrez Gene ID: 1508
• Gene Name: cathepsin B
• Gene Aliases: APPS, CPSB
• Location: Chr.8:11842524-11868150 on Build GRCh38
• Assay Gene Location: Overlaps Intron 13 - Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CTSB	NM_001317237.1			NP_001304166.1
	NM_001908.4			NP_001899.1
	NM_147780.3			NP_680090.1
	NM_147781.3			NP_680091.1
	NM_147782.3			NP_680092.1
	NM_147783.3			NP_680093.1
	XM_006716244.2			XP_006716307.1
	XM_006716245.2			XP_006716308.1
	XM_011543812.2			XP_011542114.1
	XM_017013097.1			XP_016868586.1
	XM_017013098.1			XP_016868587.1
	XM_017013099.1			XP_016868588.1
	XM_017013100.1			XP_016868589.1
	XM_017013101.1			XP_016868590.1
	AK075393.1
	AK092070.1
	AK097384.1
	AK130184.1
	AK290239.1
	AK296845.1
	AK297687.1
	AL543654.3
	BC010240.1			AAH10240.1
	BC095408.1			AAH95408.1
	BX647765.1			CAI46053.1
	BX647952.1
	BX648239.1	5	4946
	L16510.1			AAC37547.1
	M13230.1			AAA52125.1
	M14221.1			AAA52129.1
	Y18460.1			CAA77178.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1034132	Chr.8:11799524 - 12340733 on Build GRCh38	Gain	FAM66D FAM86B1 FDFT1 FAM90A2P DEFB130 DEFB134 DEFB136 DEFB135 CTSB LOC100133267 ZNF705D USP17L2 LOC392196 USP17L7
nsv610293	Chr.8:11841238 - 12072225 on Build GRCh38	Gain	CTSB LOC100133267 DEFB134 DEFB136 DEFB135
esv34042	Chr.8:11840828 - 11869308 on Build GRCh38	Loss	CTSB
nsv1018042	Chr.8:11809987 - 12024876 on Build GRCh38	Gain	CTSB FDFT1 DEFB134 DEFB136 DEFB135
esv3572516	Chr.8:11844191 - 11853761 on Build GRCh38	Loss	CTSB
nsv1032739	Chr.8:11786294 - 11858964 on Build GRCh38	Loss	CTSB NEIL2 FDFT1

More Information

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

Panther Classification:

Molecular Function -

cysteine protease

Gene Ontology Categories:

Process(es)

toll-like receptor signaling pathway
proteolysis
autophagy
spermatogenesis
skeletal muscle tissue development
response to wounding
response to glucose
response to organic cyclic compound
response to amine
collagen catabolic process
epithelial cell differentiation
regulation of apoptotic process
response to peptide hormone
response to ethanol
decidualization
viral entry into host cell
regulation of catalytic activity
proteolysis involved in cellular protein catabolic process
negative regulation of cell death
response to interleukin-4
cellular response to mechanical stimulus
cellular response to thyroid hormone stimulus

Function(s)

cysteine-type endopeptidase activity
serine-type endopeptidase activity
protein binding
collagen binding
peptidase activity
cysteine-type peptidase activity
kininogen binding
peptide binding
proteoglycan binding
protein self-association