Hs01965473_cn

• Gene Symbol: APOBR
• Assay Reference Genome Location: Chr.16:28496216 on build GRCh38
• Cytoband: 16p12.1

Target Gene Details

• Entrez Gene ID: 55911
• Gene Name: apolipoprotein B receptor
• Gene Aliases: APOB100R, APOB48R
• Location: Chr.16:28494649-28498970 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
APOBR	NM_018690.3	2	1208	NP_061160.3
	AF141332.1	3	1158	AAF76255.1
	AF141334.1	3	1158	AAF78765.1
	BC119786.1	3	1158
	BC119788.1	3	953

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv509608	Chr.16:28449797 - 28632895 on Build GRCh38	Insertion	APOBR SULT1A2 IL27 NUPR1 SULT1A1 SGF29 CLN3
esv2758640	Chr.16:28163817 - 29139232 on Build GRCh38	Gain+Loss	EIF3CL ATXN2L ATP2A1-AS1 MIR6862-1 RRN3P2 NFATC2IP NUPR1 MIR6862-2 NPIP XPO6 ATP2A1 NPIPB8 EIF3C LAT SULT1A2 IL27 NPIPB9 MIR4721 SH2B1 SULT1A1 CD19 SGF29 APOBR TUFM LOC101928215 SPNS1 MIR4517 SBK1 NPIPB6 RABEP2 CLN3
nsv1059555	Chr.16:28373144 - 29195838 on Build GRCh38	Gain	EIF3CL ATXN2L LOC107984832 ATP2A1-AS1 MIR6862-1 RRN3P2 NFATC2IP NUPR1 MIR6862-2 NPIP ATP2A1 NPIPB8 EIF3C LAT SULT1A2 IL27 NPIPB9 MIR4721 SH2B1 SULT1A1 CD19 SGF29 APOBR TUFM LOC101928215 SPNS1 MIR4517 RABEP2 CLN3
nsv833180	Chr.16:28346157 - 28574165 on Build GRCh38	Loss	EIF3CL APOBR IL27 MIR6862-1 NUPR1 NPIPB6 SGF29 CLN3
nsv9415	Chr.16:28468881 - 28498959 on Build GRCh38	Gain	APOBR CLN3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

triglyceride metabolic process
lipid transport
receptor-mediated endocytosis
cholesterol metabolic process

Function(s)

very-low-density lipoprotein particle receptor activity