Hs02148115_cn

• Gene Symbol: CTSB
• Assay Reference Genome Location: Chr.8:11843334 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: Within Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CTSB	NM_001317237.1	10	2955	NP_001304166.1
	NM_001908.4	10	2986	NP_001899.1
	NM_147780.3	12	3148	NP_680090.1
	NM_147781.3	11	3105	NP_680091.1
	NM_147782.3	11	3074	NP_680092.1
	NM_147783.3	11	3060	NP_680093.1
	AK097384.1
	AK098296.1	1	947
	AK128472.1	1	3579
	BC095408.1	10	2923	AAH95408.1

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	DEFB135 USP17L7 DEFB130 DEFB134 FAM66D LOC100133267 FAM86B1 ZNF705D DEFB136 FAM90A2P CTSB USP17L2 FDFT1 LOC392196
esv2762727	Chr.8:11842150 - 11843744 on Build GRCh38	Loss	CTSB
nsv610293	Chr.8:11841238 - 12072225 on Build GRCh38	Gain	DEFB135 DEFB136 CTSB DEFB134 LOC100133267
esv34042	Chr.8:11840828 - 11869308 on Build GRCh38	Loss	CTSB
nsv1018042	Chr.8:11809987 - 12024876 on Build GRCh38	Gain	DEFB135 DEFB136 CTSB DEFB134 FDFT1
esv3616259	Chr.8:11841916 - 11843836 on Build GRCh38	Loss	CTSB
nsv1032739	Chr.8:11786294 - 11858964 on Build GRCh38	Loss	CTSB NEIL2 FDFT1
esv2668269	Chr.8:11841914 - 11843834 on Build GRCh38	Deletion	CTSB

More Information

Additional Information:

For this assay, SNP(s) [rs73663020] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, 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