Hs01476809_cn

• Gene Symbol: APOL1
• Assay Reference Genome Location: Chr.22:36257323 on build GRCh38
• Cytoband: 22q12.3

Target Gene Details

• Entrez Gene ID: 8542
• Gene Name: apolipoprotein L1
• Gene Aliases: APO-L, APOL, APOL-I, FSGS4
• Location: Chr.22:36253071-36267531 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
APOL1	NM_001136540.1			NP_001130012.1
	NM_001136541.1			NP_001130013.1
	NM_003661.3			NP_003652.2
	NM_145343.2			NP_663318.1
	XM_005261796.3			XP_005261853.1
	XM_011530478.2			XP_011528780.1
	AF019225.2			AAB81218.2
	AF305224.1			AAK20210.1
	AF305428.1			AAL09358.1
	AF323540.1			AAG53690.1
	AK296099.1
	AK298053.1
	AK300454.1
	AK303919.1
	AK309143.1
	AK313752.1
	BC112943.1
	BC113867.1			AAI13868.1
	BC114475.1			AAI14476.1
	BC127186.1
	BC141823.1
	BC142720.1
	BC143038.1
	BC143039.1
	BG419709.1
	DA375861.1
	DC340792.1
	DC367266.1
	KU178424.1
	KU178425.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3647682	Chr.22:36224551 - 36308255 on Build GRCh38	Gain	APOL2 MYH9 MIR6819 APOL1
nsv522931	Chr.22:36220399 - 36318590 on Build GRCh38	Gain	APOL2 MYH9 MIR6819 APOL1
esv2760715	Chr.22:36218264 - 36317486 on Build GRCh38	Gain	APOL2 MYH9 MIR6819 APOL1
dgv4564n100	Chr.22:36218252 - 36319792 on Build GRCh38	Gain	APOL2 MYH9 MIR6819 APOL1
nsv834185	Chr.22:36230804 - 36392050 on Build GRCh38	Loss	APOL2 MYH9 MIR6819 APOL1

More Information

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

Panther Classification:

Molecular Function -

apolipoprotein

Gene Ontology Categories:

Process(es)

lipid transport
receptor-mediated endocytosis
cholesterol metabolic process
cytolysis
killing of cells of other organism
lipoprotein metabolic process
innate immune response
chloride transmembrane transport

Function(s)

chloride channel activity
protein binding
lipid binding