Hs05435199_cn

• Gene Symbol: LCAT
• Assay Reference Genome Location: Chr.16:67943743 on build GRCh38
• Cytoband: 16q22.1

Target Gene Details

• Entrez Gene ID: 3931
• Gene Name: lecithin-cholesterol acyltransferase
• Gene Aliases: -
• Location: Chr.16:67939884-67944112 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LCAT	NM_000229.1			NP_000220.1
	BC014781.1			AAH14781.1
	BT009748.1			AAP88750.1
	M12625.1			AAA59498.1
	M26268.1			AAA59499.1
	X06537.1			CAB56610.1

Target Gene Details

• Entrez Gene ID: 6560
• Gene Name: solute carrier family 12 member 4
• Gene Aliases: CTC-479C5.17, KCC1, hKCC1
• Location: Chr.16:67943474-67968694 on Build GRCh38
• Assay Gene Location: Within Exon 26

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC12A4	NM_001145961.1	24	4478	NP_001139433.1
	NM_001145962.1	23	4401	NP_001139434.1
	NM_001145963.1	24	4375	NP_001139435.1
	NM_001145964.1	24	4366	NP_001139436.1
	NM_005072.4	24	4496	NP_005063.1
	AI368074.1	1	278
	AK310027.1	1	778

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv522852	Chr.16:67153308 - 68071571 on Build GRCh38	Gain	DUS2 ENKD1 DDX28 HSD11B2 GFOD2 PSKH1 AGRP SLC12A4 LRRC29 FHOD1 PLEKHG4 E2F4 LOC105369155 CENPT HSF4 KCTD19 CTCF DPEP3 NUTF2 RANBP10 DPEP2 ZDHHC1 NOL3 LCAT FAM65A LOC100505942 TMEM208 NRN1L TRADD TSNAXIP1 TPPP3 KIAA0895L ATP6V0D1 LOC100131303 LOC107984813 EXOC3L1 FBXL8 THAP11 PSMB10 CARMIL2 LRRC36 ACD ELMO3 EDC4 MIR328 SLC9A5 PARD6A C16orf86 CTRL
nsv524363	Chr.16:67136529 - 68071571 on Build GRCh38	Loss	DUS2 ENKD1 DDX28 HSD11B2 GFOD2 PSKH1 AGRP SLC12A4 LRRC29 FHOD1 PLEKHG4 E2F4 LOC105369155 CENPT HSF4 KCTD19 CTCF DPEP3 NUTF2 RANBP10 DPEP2 ZDHHC1 NOL3 LCAT FAM65A B3GNT9 C16orf70 LOC100505942 TMEM208 NRN1L TRADD TSNAXIP1 TPPP3 KIAA0895L ATP6V0D1 LOC100131303 LOC107984813 EXOC3L1 FBXL8 THAP11 PSMB10 CARMIL2 LRRC36 ACD ELMO3 EDC4 MIR328 SLC9A5 PARD6A C16orf86 CTRL

More Information

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

Panther Classification:

Molecular Function -

acyltransferase, secondary carrier transporter

Gene Ontology Categories:

Process(es)

phospholipid metabolic process
phosphatidylcholine biosynthetic process
cholesterol metabolic process
cholesterol transport
very-low-density lipoprotein particle remodeling
high-density lipoprotein particle remodeling
cholesterol esterification
lipoprotein metabolic process
lipoprotein biosynthetic process
cholesterol homeostasis
reverse cholesterol transport
phosphatidylcholine metabolic process
response to copper ion
response to glucocorticoid
regulation of high-density lipoprotein particle assembly
transport
ion transport
cell volume homeostasis
chemical synaptic transmission
potassium ion transmembrane transport
chloride transmembrane transport

Function(s)

phosphatidylcholine-sterol O-acyltransferase activity
phospholipase A2 activity
protein binding
apolipoprotein A-I binding
potassium:chloride symporter activity
protein kinase binding
potassium ion symporter activity