Hs00352028_cn

• Gene Symbol: LSS
• Assay Reference Genome Location: Chr.21:46190654 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: Within Exon 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LSS	NM_001001438.2			NP_001001438.1
	NM_001145436.1	22	2695	NP_001138908.1
	NM_001145437.1	21	2860	NP_001138909.1
	NM_002340.5	22	2728	NP_002331.3
	XM_011529564.2	22	2754	XP_011527866.1
	XM_011529565.1			XP_011527867.1
	XM_011529566.2	22	2675	XP_011527868.1
	XM_011529567.2	21	2658	XP_011527869.1
	XM_017028346.1			XP_016883835.1
	XM_017028347.1			XP_016883836.1
	XM_017028348.1			XP_016883837.1
	AK092334.1	3	2078	BAC03865.1
	AK096769.1			BAC04859.1
	AK098352.1	2	216	BAC05289.1
	AK226141.1	21	2773
	BC035638.1	22	2691	AAH35638.1
	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
esv2338420	Chr.21:46189668 - 46191124 on Build GRCh38	Deletion	LSS
nsv519904	Chr.21:46163592 - 46461396 on Build GRCh38	Loss	C21orf58 YBEY LSS SPATC1L MCM3AP-AS1 PCNT MCM3AP DIP2A
nsv1061087	Chr.21:46056174 - 46223305 on Build GRCh38	Loss	COL6A2 LSS SPATC1L FTCD
nsv509804	Chr.21:45879599 - 46235140 on Build GRCh38	Insertion	COL6A2 PCBP3 LSS COL6A1 SPATC1L MCM3AP-AS1 FTCD LOC101928796 MCM3AP
nsv1062031	Chr.21:46188666 - 46223305 on Build GRCh38	Gain	LSS
esv29868	Chr.21:46189865 - 46190920 on Build GRCh38	Loss	LSS
nsv470910	Chr.21:45933861 - 46665076 on Build GRCh38	Gain	PCBP3 LSS COL6A1 PRMT2 DIP2A-IT1 PCNT FTCD LOC101928796 MCM3AP S100B C21orf58 COL6A2 YBEY SPATC1L MCM3AP-AS1 DIP2A
esv2587417	Chr.21:46188898 - 46191269 on Build GRCh38	Deletion	LSS
nsv1060978	Chr.21:46068159 - 46413726 on Build GRCh38	Gain	C21orf58 COL6A2 YBEY LSS SPATC1L MCM3AP-AS1 PCNT FTCD MCM3AP
esv3647164	Chr.21:46189814 - 46191090 on Build GRCh38	Loss	LSS
esv2668812	Chr.21:46189828 - 46190962 on Build GRCh38	Deletion	LSS

More Information

• Set Membership: Intragenic, 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