Hs01412089_cn

• Gene Symbol: GJA5
• Assay Reference Genome Location: Chr.1:147757639 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	1744	NP_005257.2
	NM_181703.3	2	1741	NP_859054.1
	XM_005272951.4	2	2094	XP_005273008.1
	XM_017001044.1	3	3783	XP_016856533.1
	BC013313.2	2	1712	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	PIAS3 ACP6 GPR89A POLR3C NBPF12 NUDT17 ANKRD34A NOTCH2NL RNVU1-3 RNVU1-7 GNRHR2 GJA8 GPR89B LOC101928979 LOC101927468 RNF115 NBPF13P HYDIN2 BCL9 NUDT4P2 PDZK1P1 LOC105371242 PDE4DIP TXNIP MIR6736 LINC01138 NUDT4P1 NBPF11 GJA5 RBM8A CD160 POLR3GL CHD1L RNVU1-6 PPIAL4G PDZK1 NBPF10 FMO5 CH17-408M7.1 ANKRD35 NBPF14 PRKAB2 LOC100132057 MIR6077 RNVU1-1 LOC100505824 LINC00624 MIR5087 LOC105371226 LIX1L PEX11B LOC100996517 RNU1-13P LOC284561 LOC100996763 ITGA10 LOC728989 HFE2 PDIA3P1 RNVU1-8
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	CHD1L ACP6 RNVU1-6 PPIAL4G NBPF12 NBPF10 FMO5 NOTCH2NL RNVU1-3 CH17-408M7.1 RNVU1-7 NBPF14 PRKAB2 LOC100132057 MIR6077 GJA8 GPR89B LOC101928979 RNVU1-1 LOC101927468 LOC100505824 NBPF13P HYDIN2 BCL9 NUDT4P2 PDZK1P1 LOC105371242 LINC00624 PDE4DIP MIR5087 LOC105371226 LINC01138 NUDT4P1 LOC100996517 RNU1-13P LOC284561 NBPF11 LOC100996763 GJA5 LOC728989 PDIA3P1 RNVU1-8
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	CHD1L ACP6 PPIAL4G NBPF12 NBPF10 FMO5 NOTCH2NL RNVU1-3 CH17-408M7.1 RNVU1-7 NBPF14 PRKAB2 LOC100132057 MIR6077 GJA8 GPR89B RNVU1-1 LOC101927468 LOC100505824 NBPF13P HYDIN2 BCL9 NUDT4P2 PDZK1P1 LOC105371242 LINC00624 PDE4DIP MIR5087 LOC105371226 LINC01138 NUDT4P1 LOC100996517 RNU1-13P LOC284561 NBPF11 LOC100996763 GJA5 LOC728989 PDIA3P1 RNVU1-8
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	POLR3GL CHD1L ACP6 RNVU1-6 PPIAL4G NBPF12 NBPF10 FMO5 ANKRD34A NOTCH2NL RNVU1-3 CH17-408M7.1 RNVU1-7 NBPF14 PRKAB2 LOC100132057 MIR6077 GJA8 GPR89B LOC101928979 RNVU1-1 LOC101927468 LOC100505824 NBPF13P HYDIN2 BCL9 NUDT4P2 PDZK1P1 LOC105371242 LINC00624 PDE4DIP TXNIP MIR5087 LOC105371226 LIX1L LINC01138 NUDT4P1 LOC100996517 RNU1-13P LOC284561 NBPF11 LOC100996763 GJA5 LOC728989 HFE2 PDIA3P1 RNVU1-8
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	CHD1L ACP6 PPIAL4G NBPF12 FMO5 NOTCH2NL RNVU1-3 CH17-408M7.1 RNVU1-7 NBPF14 PRKAB2 LOC100132057 MIR6077 GJA8 GPR89B RNVU1-1 LOC101927468 LOC100505824 NBPF13P HYDIN2 BCL9 NUDT4P2 PDZK1P1 LOC105371242 LINC00624 PDE4DIP MIR5087 LOC105371226 LINC01138 NUDT4P1 LOC100996517 RNU1-13P LOC284561 NBPF11 LOC100996763 GJA5 LOC728989 PDIA3P1 RNVU1-8
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	CHD1L ACP6 RNVU1-6 PPIAL4G NBPF12 NBPF10 FMO5 NOTCH2NL RNVU1-3 CH17-408M7.1 RNVU1-7 NBPF14 PRKAB2 LOC100132057 MIR6077 GJA8 GPR89B LOC101928979 RNVU1-1 LOC101927468 LOC100505824 NBPF13P HYDIN2 BCL9 NUDT4P2 PDZK1P1 LOC105371242 LINC00624 PDE4DIP MIR5087 LOC105371226 LINC01138 NUDT4P1 LOC100996517 RNU1-13P LOC284561 NBPF11 LOC100996763 GJA5 LOC728989 PDIA3P1 RNVU1-8
nsv831426	Chr.1:147618125 - 147793153 on Build GRCh38	Loss	ACP6 GJA5 BCL9
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	CHD1L ACP6 PPIAL4G NBPF12 NBPF10 FMO5 NOTCH2NL RNVU1-3 CH17-408M7.1 RNVU1-7 NBPF14 PRKAB2 LOC100132057 MIR6077 GJA8 GPR89B LOC101928979 RNVU1-1 LOC101927468 LOC100505824 NBPF13P HYDIN2 BCL9 NUDT4P2 PDZK1P1 LOC105371242 LINC00624 PDE4DIP NBPF9 MIR5087 LOC105371226 LINC01138 NUDT4P1 LOC100996517 RNU1-13P LOC284561 NBPF11 LOC100996763 GJA5 LOC728989 PDIA3P1 RNVU1-8

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