Hs05233089_cn

• Gene Symbol: SERPINH1
• Assay Reference Genome Location: Chr.11:75565268 on build GRCh38
• Cytoband: 11q13.5

Target Gene Details

• Entrez Gene ID: 871
• Gene Name: serpin family H member 1
• Gene Aliases: AsTP3, CBP1, CBP2, HSP47, OI10, PIG14, PPROM, RA-A47, SERPINH2, gp46
• Location: Chr.11:75562056-75572804 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SERPINH1	NM_001207014.1			NP_001193943.1
	NM_001235.3			NP_001226.2
	XM_011545327.1			XP_011543629.1
	AK122936.1
	AK130870.1
	AK131503.1	1	174
	AK290124.1
	AK297811.1
	AK309905.1
	AY264853.1			AAP93914.1
	BC014623.2			AAH14623.1
	BC036298.1			AAH36298.2
	BC070087.1			AAH70087.1
	CB123399.1
	D83174.1			BAA11829.1
	DC398178.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv525193	Chr.11:75565133 - 75576296 on Build GRCh38	Loss	SERPINH1

More Information

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

Panther Classification:

Molecular Function -

protease inhibitor

Gene Ontology Categories:

Process(es)

chondrocyte development involved in endochondral bone morphogenesis
response to unfolded protein
negative regulation of endopeptidase activity
collagen fibril organization
collagen biosynthetic process
protein maturation

Function(s)

serine-type endopeptidase inhibitor activity
collagen binding
poly(A) RNA binding
unfolded protein binding