Hs06537348_cn

• Gene Symbol: SOAT1
• Assay Reference Genome Location: Chr.1:179295047 on build GRCh38
• Cytoband: 1q25.2

Target Gene Details

• Entrez Gene ID: 6646
• Gene Name: sterol O-acyltransferase 1
• Gene Aliases: ACACT, ACAT, ACAT-1, ACAT1, SOAT, STAT
• Location: Chr.1:179293714-179358680 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SOAT1	NM_001252511.1			NP_001239440.1
	NM_001252512.1			NP_001239441.1
	NM_003101.5			NP_003092.4
	NR_045530.1
	XM_011509911.1			XP_011508213.1
	XM_011509912.1			XP_011508214.1
	AK026611.1
	AK290659.1
	AK294047.1
	AK300551.1
	AL833625.1
	BC028940.1			AAH28940.1
	DC344271.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3588049	Chr.1:179283082 - 179297255 on Build GRCh38	Loss	SOAT1
esv2666168	Chr.1:179280291 - 179297432 on Build GRCh38	Deletion	SOAT1
nsv1005278	Chr.1:179228510 - 179402260 on Build GRCh38	Gain	AXDND1 SOAT1 ABL2

More Information

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

Panther Classification:

Molecular Function -

acyltransferase

Gene Ontology Categories:

Process(es)

cholesterol metabolic process
macrophage derived foam cell differentiation
cholesterol storage
cholesterol efflux
very-low-density lipoprotein particle assembly
cholesterol esterification
cholesterol homeostasis
positive regulation of amyloid precursor protein biosynthetic process

Function(s)

fatty-acyl-CoA binding
sterol O-acyltransferase activity
protein binding
cholesterol binding
cholesterol O-acyltransferase activity