Hs01523231_cn

• Gene Symbol: ABCB1
• Assay Reference Genome Location: Chr.7:87693940 on build GRCh38
• Cytoband: 7q21.12

Target Gene Details

• Entrez Gene ID: 5243
• Gene Name: ATP binding cassette subfamily B member 1
• Gene Aliases: ABC20, CD243, CLCS, GP170, MDR1, P-GP, PGY1
• Location: Chr.7:87503863-87713323 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABCB1	NM_000927.4			NP_000918.2
	AF345623.1
	AF345624.1
	AF345625.1
	AK290159.1
	AY425005.1			AAR91621.1
	AY425006.1			AAR91622.1
	M14758.1			AAA59575.1

Target Gene Details

• Entrez Gene ID: 154661
• Gene Name: RUN domain containing 3B
• Gene Aliases: RPIB9, RPIP9
• Location: Chr.7:87627656-87832298 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RUNDC3B	NM_001134405.1			NP_001127877.1
	NM_001134406.1			NP_001127878.1
	NM_138290.2			NP_612147.1
	XM_005250156.2			XP_005250213.1
	XM_011515826.1			XP_011514128.1
	XM_011515827.1			XP_011514129.1
	XM_011515828.2			XP_011514130.1
	XM_011515829.2			XP_011514131.1
	XM_017011761.1			XP_016867250.1
	XM_017011762.1			XP_016867251.1
	XM_017011763.1			XP_016867252.1
	XM_017011765.1			XP_016867254.1
	XM_017011766.1			XP_016867255.1
	AK055233.1			BAB70882.1
	AK293607.1
	AK294039.1
	AY033596.1			AAK52313.1
	BC022520.1			AAH22520.1
	DC304423.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv464622	Chr.7:87203287 - 87911933 on Build GRCh38	Gain	RUNDC3B ABCB4 SLC25A40 TP53TG1 TMEM243 DBF4 CROT ABCB1
nsv607728	Chr.7:87687838 - 87696630 on Build GRCh38	Loss	RUNDC3B ABCB1

More Information

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

Panther Classification:

Molecular Function -

ATP-binding cassette (ABC) transporter

Gene Ontology Categories:

Process(es)

G2/M transition of mitotic cell cycle
antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent
antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent
antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent
positive regulation of antigen processing and presentation of peptide antigen via MHC class I
transport
drug transmembrane transport
response to drug
xenobiotic transport
transmembrane transport
stem cell proliferation

Function(s)

transporter activity
protein binding
ATP binding
xenobiotic-transporting ATPase activity
ATPase activity, coupled to transmembrane movement of substances