Hs06082326_cn

• Gene Symbol: HAPLN1
• Assay Reference Genome Location: Chr.5:83638961 on build GRCh38
• Cytoband: 5q14.3

Target Gene Details

• Entrez Gene ID: 1404
• Gene Name: hyaluronan and proteoglycan link protein 1
• Gene Aliases: CRT1, CRTL1
• Location: Chr.5:83638198-83721210 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HAPLN1	NM_001884.3	5	3915	NP_001875.1
	XM_011543168.2	5	3849	XP_011541470.1
	XM_017009051.1	6	4098	XP_016864540.1
	XM_017009052.1	5	3711	XP_016864541.1
	XM_017009053.1	5	3895	XP_016864542.1
	XM_017009054.1	5	3850	XP_016864543.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv4904	Chr.5:83636117 - 83668059 on Build GRCh38	Insertion	HAPLN1
nsv830367	Chr.5:83531833 - 83742562 on Build GRCh38	Gain+Loss	HAPLN1 VCAN LOC105379054
nsv1015852	Chr.5:83404850 - 84499122 on Build GRCh38	Gain	HAPLN1 VCAN LOC105379054 EDIL3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

extracellular matrix glycoprotein

Gene Ontology Categories:

Process(es)

skeletal system development
cell adhesion
central nervous system development
extracellular matrix organization
mitophagy in response to mitochondrial depolarization

Function(s)

extracellular matrix structural constituent
hyaluronic acid binding