Hs01575402_cn

• Gene Symbol: GJA5
• Assay Reference Genome Location: Chr.1:147757998 on build GRCh38
• Cytoband: 1q21.2

Target Gene Details

• Entrez Gene ID: 2702
• Gene Name: gap junction protein alpha 5
• Gene Aliases: ATFB11, CX40
• Location: Chr.1:147756199-147781127 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GJA5	NM_005266.6	2	1385	NP_005257.2
	NM_181703.3	2	1382	NP_859054.1
	XM_005272951.4	2	1735	XP_005273008.1
	XM_017001044.1	3	3424	XP_016856533.1
	BC013313.2	2	1353	AAH13313.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1005055	Chr.1:145642988 - 148991068 on Build GRCh38	Loss	LOC105371242 POLR3C PDIA3P1 HFE2 ANKRD35 GPR89B LOC101927468 HYDIN2 CHD1L LOC100996763 CH17-408M7.1 NUDT4P1 PIAS3 BCL9 NBPF14 PDZK1 MIR6736 LOC105371226 NBPF13P PPIAL4G LINC00624 RNF115 LOC100132057 RNVU1-6 LOC728989 POLR3GL NUDT17 RNVU1-8 RNVU1-1 TXNIP LOC100996517 LOC101928979 GNRHR2 GPR89A RNVU1-3 RNU1-13P LIX1L FMO5 NOTCH2NL LINC01138 MIR5087 PDE4DIP NBPF11 PEX11B MIR6077 NBPF10 RBM8A LOC284561 GJA8 RNVU1-7 PRKAB2 GJA5 ANKRD34A PDZK1P1 NUDT4P2 ITGA10 CD160 NBPF12 LOC100505824 ACP6
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	RNVU1-3 RNU1-13P LOC105371242 PDIA3P1 GPR89B LOC101927468 HYDIN2 FMO5 CHD1L NOTCH2NL LINC01138 MIR5087 LOC100996763 CH17-408M7.1 PDE4DIP NUDT4P1 NBPF11 BCL9 MIR6077 NBPF14 NBPF10 LOC284561 LOC105371226 GJA8 RNVU1-7 NBPF13P PPIAL4G LINC00624 PRKAB2 GJA5 LOC100132057 RNVU1-6 LOC728989 PDZK1P1 NUDT4P2 RNVU1-8 RNVU1-1 LOC100996517 NBPF12 LOC100505824 ACP6 LOC101928979
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	RNVU1-3 RNU1-13P LOC105371242 PDIA3P1 GPR89B LOC101927468 HYDIN2 FMO5 CHD1L NOTCH2NL LINC01138 MIR5087 LOC100996763 CH17-408M7.1 PDE4DIP NUDT4P1 NBPF11 BCL9 MIR6077 NBPF14 NBPF10 LOC284561 LOC105371226 GJA8 RNVU1-7 NBPF13P PPIAL4G LINC00624 PRKAB2 GJA5 LOC100132057 LOC728989 PDZK1P1 NUDT4P2 RNVU1-8 RNVU1-1 LOC100996517 NBPF12 LOC100505824 ACP6
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	RNVU1-3 RNU1-13P LOC105371242 LIX1L PDIA3P1 HFE2 GPR89B LOC101927468 HYDIN2 FMO5 CHD1L NOTCH2NL LINC01138 MIR5087 LOC100996763 CH17-408M7.1 PDE4DIP NUDT4P1 NBPF11 BCL9 MIR6077 NBPF14 NBPF10 LOC284561 LOC105371226 GJA8 RNVU1-7 NBPF13P PPIAL4G LINC00624 PRKAB2 GJA5 LOC100132057 ANKRD34A RNVU1-6 LOC728989 PDZK1P1 NUDT4P2 POLR3GL RNVU1-8 RNVU1-1 TXNIP LOC100996517 NBPF12 LOC100505824 ACP6 LOC101928979
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	RNVU1-3 RNU1-13P LOC105371242 PDIA3P1 GPR89B LOC101927468 HYDIN2 FMO5 CHD1L NOTCH2NL LINC01138 MIR5087 LOC100996763 CH17-408M7.1 PDE4DIP NUDT4P1 NBPF11 BCL9 MIR6077 NBPF14 LOC284561 LOC105371226 GJA8 RNVU1-7 NBPF13P PPIAL4G LINC00624 PRKAB2 GJA5 LOC100132057 LOC728989 PDZK1P1 NUDT4P2 RNVU1-8 RNVU1-1 LOC100996517 NBPF12 LOC100505824 ACP6
nsv997330	Chr.1:147713804 - 147841832 on Build GRCh38	Gain	GJA5
nsv463506	Chr.1:147719707 - 147837308 on Build GRCh38	Gain	GJA5
nsv1003688	Chr.1:146036817 - 148934526 on Build GRCh38	Gain	RNVU1-3 RNU1-13P LOC105371242 PDIA3P1 GPR89B LOC101927468 HYDIN2 FMO5 CHD1L NOTCH2NL LINC01138 MIR5087 LOC100996763 CH17-408M7.1 PDE4DIP NUDT4P1 NBPF11 BCL9 MIR6077 NBPF14 NBPF10 LOC284561 LOC105371226 GJA8 RNVU1-7 NBPF13P PPIAL4G LINC00624 PRKAB2 GJA5 LOC100132057 RNVU1-6 LOC728989 PDZK1P1 NUDT4P2 RNVU1-8 RNVU1-1 LOC100996517 NBPF12 LOC100505824 ACP6 LOC101928979
nsv831426	Chr.1:147618125 - 147793153 on Build GRCh38	Loss	BCL9 GJA5 ACP6
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	RNVU1-3 RNU1-13P LOC105371242 PDIA3P1 GPR89B LOC101927468 HYDIN2 FMO5 CHD1L NOTCH2NL LINC01138 MIR5087 LOC100996763 CH17-408M7.1 PDE4DIP NUDT4P1 NBPF11 BCL9 MIR6077 NBPF14 NBPF10 LOC284561 LOC105371226 GJA8 RNVU1-7 NBPF13P PPIAL4G LINC00624 PRKAB2 NBPF9 GJA5 LOC100132057 LOC728989 PDZK1P1 NUDT4P2 RNVU1-8 RNVU1-1 LOC100996517 NBPF12 LOC100505824 ACP6 LOC101928979

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

gap junction

Gene Ontology Categories:

Process(es)

skeletal system development
angiogenesis
negative regulation of glomerular filtration
outflow tract morphogenesis
endothelium development
cardiac conduction system development
mitral valve development
pulmonary valve formation
ventricular septum development
atrial septum development
septum primum development
atrial ventricular junction remodeling
potassium ion transport
cell communication by chemical coupling
positive regulation of cell communication by chemical coupling
gap junction assembly
embryonic limb morphogenesis
embryonic heart tube development
foramen ovale closure
negative regulation of blood pressure
positive regulation of vasoconstriction
positive regulation of vasodilation
artery morphogenesis
protein oligomerization
transmembrane transport
regulation of cardiac muscle contraction
regulation of ventricular cardiac muscle cell membrane repolarization
regulation of atrial cardiac muscle cell membrane depolarization
regulation of ventricular cardiac muscle cell membrane depolarization
ventricular septum morphogenesis
atrial septum morphogenesis
ventricular cardiac muscle cell action potential
SA node cell action potential
AV node cell to bundle of His cell communication by electrical coupling
bundle of His cell to Purkinje myocyte communication by electrical coupling
cell communication by electrical coupling involved in cardiac conduction
regulation of heart rate by cardiac conduction
regulation of AV node cell action potential
regulation of bundle of His cell action potential
regulation of Purkinje myocyte action potential
regulation of atrial cardiac muscle cell action potential
regulation of renin secretion into blood stream
regulation of membrane depolarization during cardiac muscle cell action potential
vasomotion

Function(s)

gap junction hemi-channel activity
connexin binding
gap junction channel activity involved in cardiac conduction electrical coupling
gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling