Hs04465079_cn

• Gene Symbol: LLGL1
• Assay Reference Genome Location: Chr.17:18226108 on build GRCh38
• Cytoband: 17p11.2

Target Gene Details

• Entrez Gene ID: 3996
• Gene Name: LLGL1, scribble cell polarity complex component
• Gene Aliases: DLG4, HUGL, HUGL-1, HUGL1, LLGL, Lgl1, Mgl1
• Location: Chr.17:18225593-18244875 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LLGL1	NM_004140.3			NP_004131.3
	XM_011523849.2			XP_011522151.1
	XM_011523850.2			XP_011522152.1
	XM_011523851.2			XP_011522153.1
	XM_011523852.2			XP_011522154.1
	XM_011523853.2			XP_011522155.1
	XM_011523854.2			XP_011522156.1
	XM_011523855.2			XP_011522157.1
	XM_011523856.1			XP_011522158.1
	BC028037.1			AAH28037.1
	BC028214.1
	BC151838.1
	D50550.1			BAA19516.1
	X86371.1			CAA60130.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv9503	Chr.17:18218160 - 18265852 on Build GRCh38	Gain	MIEF2 FLII LLGL1
esv27526	Chr.17:18225125 - 18226221 on Build GRCh38	Loss	LLGL1

More Information

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

Panther Classification:

Molecular Function -

membrane trafficking regulatory protein

Gene Ontology Categories:

Process(es)

protein complex assembly
exocytosis
Golgi to plasma membrane transport
axonogenesis
regulation of Notch signaling pathway
regulation of exocytosis
neurogenesis
cortical actin cytoskeleton organization
regulation of establishment or maintenance of cell polarity
positive regulation of GTPase activity
regulation of protein secretion
establishment of spindle orientation

Function(s)

GTPase activator activity
structural molecule activity
protein binding
Rab GTPase binding
protein kinase binding
syntaxin binding