Hs01659284_cn

• Gene Symbol: CTSA
• Assay Reference Genome Location: Chr.20:45898732 on build GRCh38
• Cytoband: 20q13.12

Target Gene Details

• Entrez Gene ID: 5476
• Gene Name: cathepsin A
• Gene Aliases: GLB2, GSL, NGBE, PPCA, PPGB
• Location: Chr.20:45890144-45898820 on Build GRCh38
• Assay Gene Location: Within Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CTSA	NM_000308.3	15	2961	NP_000299.2
	NM_001127695.2	15	3007	NP_001121167.1
	NM_001167594.2	14	2910	NP_001161066.1
	NR_133656.1	15	2968
	AB209705.2	15	1777	BAD92942.1
	AF086236.1	2	392
	AK055177.1	2	2093
	AK097786.1	14	1674
	AK172808.1	15	2965
	BC000597.2	15	1763	AAH00597.1
	BC093009.1	15	1770	AAH93009.1
	M22960.1	14	1731	AAA36476.1

Target Gene Details

• Entrez Gene ID: 5360
• Gene Name: phospholipid transfer protein
• Gene Aliases: BPIFE, HDLCQ9
• Location: Chr.20:45898620-45912364 on Build GRCh38
• Assay Gene Location: Within Exon 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLTP	NM_001242920.1	14	1703	NP_001229849.1
	NM_001242921.1	14	1615	NP_001229850.1
	NM_006227.3	16	1988	NP_006218.1
	NM_182676.2	15	1832	NP_872617.1
	AB076694.1			BAB79630.1
	AF052157.1
	AK092397.1
	AK097009.1
	AK222690.1			BAD96410.1
	AK293150.1	14	1531
	BC005045.1			AAH05045.1
	BC019847.1			AAH19847.1
	BC019898.1			AAH19898.1
	L26232.1			AAA36443.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833991	Chr.20:45885631 - 46068708 on Build GRCh38	Loss	MMP9 ZNF335 NCOA5 PLTP SLC12A5 LOC107985388 NEURL2 PCIF1 CTSA SPATA25
nsv517296	Chr.20:45854586 - 45965936 on Build GRCh38	Loss	ZSWIM3 ZNF335 ACOT8 PLTP LOC107985388 NEURL2 ZSWIM1 PCIF1 CTSA SPATA25
nsv833990	Chr.20:45771510 - 45946844 on Build GRCh38	Loss	ZSWIM3 PLTP LOC107985388 ZSWIM1 SPATA25 TNNC2 DNTTIP1 UBE2C ACOT8 WFDC3 NEURL2 PCIF1 SNX21 CTSA

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

proteolysis
glycosphingolipid metabolic process
intracellular protein transport
regulation of protein stability
positive regulation of catalytic activity
proteolysis involved in cellular protein catabolic process
chaperone-mediated autophagy
regulation of chaperone-mediated autophagy
lipid metabolic process
lipid transport
vitamin E biosynthetic process
positive regulation of cholesterol efflux
sperm motility
high-density lipoprotein particle remodeling

Function(s)

carboxypeptidase activity
serine-type carboxypeptidase activity
exo-alpha-sialidase activity
enzyme activator activity
lipid binding