Hs04446153_cn

• Gene Symbol: LRRK1
• Assay Reference Genome Location: Chr.15:100945934 on build GRCh38
• Cytoband: 15q26.3

Target Gene Details

• Entrez Gene ID: 79705
• Gene Name: leucine rich repeat kinase 1
• Gene Aliases: RIPK6, Roco1
• Location: Chr.15:100919017-101070837 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LRRK1	NM_024652.4			NP_078928.3
	XM_011522012.2			XP_011520314.1
	XM_011522013.2			XP_011520315.1
	XM_011522014.2			XP_011520316.1
	XM_011522016.2			XP_011520318.1
	XM_011522019.2			XP_011520321.1
	AW592808.1
	BC068080.1			AAH68080.1
	DQ013130.1			AAY67799.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1041172	Chr.15:100435008 - 101062634 on Build GRCh38	Gain	LRRK1 PRKXP1 ASB7 LINS1 LOC105369201 LOC440313 LOC102723335 CERS3-AS1 CERS3 ALDH1A3 LOC101927751
nsv516426	Chr.15:100939770 - 100957716 on Build GRCh38	Loss	LRRK1
esv3637491	Chr.15:100938303 - 100955590 on Build GRCh38	Gain	LRRK1
esv2760062	Chr.15:100940885 - 101120697 on Build GRCh38	Gain	LRRK1
nsv833109	Chr.15:100933251 - 101126393 on Build GRCh38	Gain	LRRK1

More Information

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

Panther Classification:

Molecular Function -

non-receptor serine/threonine protein kinase, scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

protein phosphorylation
small GTPase mediated signal transduction
osteoclast development
bone resorption
positive regulation of peptidyl-tyrosine phosphorylation
negative regulation of peptidyl-tyrosine phosphorylation
positive regulation of canonical Wnt signaling pathway
positive regulation of intracellular signal transduction

Function(s)

protein serine/threonine kinase activity
protein binding
ATP binding
GTP binding
identical protein binding
metal ion binding