Hs01030868_cn

• Gene Symbol: LSS
• Assay Reference Genome Location: Chr.21:46189165 on build GRCh38
• Cytoband: 21q22.3

Target Gene Details

• Entrez Gene ID: 4047
• Gene Name: lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)
• Gene Aliases: CTRCT44, OSC
• Location: Chr.21:46188446-46228824 on Build GRCh38
• Assay Gene Location: Overlaps Intron 22 - Exon 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LSS	NM_001001438.2			NP_001001438.1
	NM_001145436.1			NP_001138908.1
	NM_001145437.1			NP_001138909.1
	NM_002340.5			NP_002331.3
	XM_011529564.2			XP_011527866.1
	XM_011529565.1			XP_011527867.1
	XM_011529566.2			XP_011527868.1
	XM_011529567.2			XP_011527869.1
	XM_017028346.1			XP_016883835.1
	XM_017028347.1			XP_016883836.1
	XM_017028348.1			XP_016883837.1
	AA922470.1
	AK092334.1			BAC03865.1
	AK096769.1			BAC04859.1
	AK098352.1			BAC05289.1
	AK226141.1
	BC035638.1			AAH35638.1
	BM662957.1
	BU728696.1
	D63807.1			BAA09875.1
	S81221.1			AAB36220.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv519904	Chr.21:46163592 - 46461396 on Build GRCh38	Loss	DIP2A PCNT MCM3AP-AS1 C21orf58 LSS MCM3AP SPATC1L YBEY
nsv1061087	Chr.21:46056174 - 46223305 on Build GRCh38	Loss	FTCD LSS COL6A2 SPATC1L
nsv509804	Chr.21:45879599 - 46235140 on Build GRCh38	Insertion	FTCD PCBP3 MCM3AP-AS1 LOC101928796 LSS MCM3AP COL6A2 SPATC1L COL6A1
nsv1062031	Chr.21:46188666 - 46223305 on Build GRCh38	Gain	LSS
nsv470910	Chr.21:45933861 - 46665076 on Build GRCh38	Gain	DIP2A-IT1 FTCD PCNT S100B C21orf58 LSS SPATC1L PRMT2 COL6A1 DIP2A PCBP3 MCM3AP-AS1 LOC101928796 MCM3AP COL6A2 YBEY
esv2587417	Chr.21:46188898 - 46191269 on Build GRCh38	Deletion	LSS
nsv1060978	Chr.21:46068159 - 46413726 on Build GRCh38	Gain	FTCD PCNT MCM3AP-AS1 C21orf58 LSS MCM3AP COL6A2 SPATC1L YBEY

More Information

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

Panther Classification:

Molecular Function -

cyclase

Gene Ontology Categories:

Process(es)

steroid biosynthetic process
cholesterol biosynthetic process
regulation of protein stability

Function(s)

lanosterol synthase activity