Hs05218043_cn

• Gene Symbol: HTRA1
• Assay Reference Genome Location: Chr.10:122488019 on build GRCh38
• Cytoband: 10q26.13

Target Gene Details

• Entrez Gene ID: 5654
• Gene Name: HtrA serine peptidase 1
• Gene Aliases: ARMD7, CADASIL2, CARASIL, HtrA, L56, ORF480, PRSS11
• Location: Chr.10:122461525-122514908 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HTRA1	NM_002775.4			NP_002766.1
	AF097709.1			AAC97211.1
	AK091944.1
	AK092476.1
	AK290089.1
	BC011352.1
	D87258.1			BAA13322.1
	DA633502.1
	Y07921.1			CAA69226.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv7580	Chr.10:122446276 - 122490980 on Build GRCh38	Deletion	HTRA1 ARMS2
nsv825594	Chr.10:122434264 - 122505709 on Build GRCh38	Gain	HTRA1 ARMS2

More Information

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

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

regulation of cell growth
placenta development
proteolysis
extracellular matrix disassembly
negative regulation of transforming growth factor beta receptor signaling pathway
negative regulation of BMP signaling pathway
positive regulation of epithelial cell proliferation
negative regulation of defense response to virus
chorionic trophoblast cell differentiation
dentinogenesis

Function(s)

serine-type endopeptidase activity
insulin-like growth factor binding
serine-type peptidase activity