Hs06525460_cn

• Gene Symbol: GJA5
• Assay Reference Genome Location: Chr.1:147769879 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 Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GJA5	NM_005266.6			NP_005257.2
	XM_005272951.4			XP_005273008.1
	XM_017001044.1			XP_016856533.1
	BQ231177.1
	BQ924948.1
	DR003194.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3894123	Chr.1:147766386 - 147903855 on Build GRCh38	Gain	GJA5 GJA8
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	PDE4DIP LOC101927468 LOC284561 LOC728989 LINC00624 BCL9 HYDIN2 GJA8 RNVU1-1 RNU1-13P LOC105371226 PPIAL4G LOC100996763 LOC100996517 RNVU1-6 RNVU1-8 MIR5087 NUDT4P1 NBPF14 NBPF13P NBPF11 GPR89B MIR6077 ACP6 LOC101928979 LOC105371242 PDZK1P1 RNVU1-3 CH17-408M7.1 RNVU1-7 PRKAB2 NBPF12 NBPF10 NUDT4P2 LINC01138 GJA5 NOTCH2NL LOC100505824 LOC100132057 PDIA3P1 CHD1L FMO5
nsv1005055	Chr.1:145642988 - 148991068 on Build GRCh38	Loss	PDE4DIP POLR3C LOC728989 RNF115 LINC00624 ANKRD35 PDZK1 BCL9 LIX1L GNRHR2 LOC105371226 LOC100996763 LOC100996517 RNVU1-6 RNVU1-8 NUDT4P1 NBPF14 NBPF13P MIR6077 ACP6 TXNIP LOC101928979 GPR89A RNVU1-3 NBPF12 HFE2 NBPF10 GJA5 NOTCH2NL LOC100505824 PDIA3P1 LOC101927468 LOC284561 POLR3GL HYDIN2 PEX11B GJA8 RBM8A PIAS3 RNVU1-1 RNU1-13P PPIAL4G CD160 MIR5087 NBPF11 GPR89B MIR6736 LOC105371242 PDZK1P1 CH17-408M7.1 RNVU1-7 PRKAB2 NUDT4P2 LINC01138 ANKRD34A NUDT17 LOC100132057 CHD1L ITGA10 FMO5
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	PDE4DIP LOC101927468 LOC284561 LOC728989 LINC00624 BCL9 HYDIN2 GJA8 RNVU1-1 RNU1-13P LOC105371226 PPIAL4G LOC100996763 LOC100996517 RNVU1-8 MIR5087 NUDT4P1 NBPF14 NBPF13P NBPF11 GPR89B MIR6077 ACP6 LOC105371242 PDZK1P1 RNVU1-3 CH17-408M7.1 RNVU1-7 PRKAB2 NBPF12 NBPF10 NUDT4P2 LINC01138 GJA5 NOTCH2NL LOC100505824 LOC100132057 PDIA3P1 CHD1L FMO5
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	PDE4DIP LOC101927468 LOC284561 POLR3GL LOC728989 LINC00624 BCL9 HYDIN2 GJA8 RNVU1-1 LIX1L RNU1-13P LOC105371226 PPIAL4G LOC100996763 LOC100996517 RNVU1-6 RNVU1-8 MIR5087 NUDT4P1 NBPF14 NBPF13P NBPF11 GPR89B MIR6077 ACP6 TXNIP LOC101928979 LOC105371242 PDZK1P1 RNVU1-3 CH17-408M7.1 RNVU1-7 PRKAB2 NBPF12 HFE2 NBPF10 NUDT4P2 LINC01138 ANKRD34A GJA5 NOTCH2NL LOC100505824 LOC100132057 PDIA3P1 CHD1L FMO5
nsv831437	Chr.1:147762499 - 147920878 on Build GRCh38	Loss	GJA5 GJA8
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	PDE4DIP LOC101927468 LOC284561 LOC728989 LINC00624 BCL9 HYDIN2 GJA8 RNVU1-1 RNU1-13P LOC105371226 PPIAL4G LOC100996763 LOC100996517 RNVU1-8 MIR5087 NUDT4P1 NBPF14 NBPF13P NBPF11 GPR89B MIR6077 ACP6 LOC105371242 PDZK1P1 RNVU1-3 CH17-408M7.1 RNVU1-7 PRKAB2 NBPF12 NUDT4P2 LINC01138 GJA5 NOTCH2NL LOC100505824 LOC100132057 PDIA3P1 CHD1L FMO5
nsv547677	Chr.1:147719707 - 147837308 on Build GRCh38	Gain	GJA5
nsv997330	Chr.1:147713804 - 147841832 on Build GRCh38	Gain	GJA5
nsv831426	Chr.1:147618125 - 147793153 on Build GRCh38	Loss	ACP6 GJA5 BCL9
nsv1003688	Chr.1:146036817 - 148934526 on Build GRCh38	Gain	PDE4DIP LOC101927468 LOC284561 LOC728989 LINC00624 BCL9 HYDIN2 GJA8 RNVU1-1 RNU1-13P LOC105371226 PPIAL4G LOC100996763 LOC100996517 RNVU1-6 RNVU1-8 MIR5087 NUDT4P1 NBPF14 NBPF13P NBPF11 GPR89B MIR6077 ACP6 LOC101928979 LOC105371242 PDZK1P1 RNVU1-3 CH17-408M7.1 RNVU1-7 PRKAB2 NBPF12 NBPF10 NUDT4P2 LINC01138 GJA5 NOTCH2NL LOC100505824 LOC100132057 PDIA3P1 CHD1L FMO5
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	PDE4DIP LOC101927468 LOC284561 LOC728989 LINC00624 BCL9 HYDIN2 GJA8 RNVU1-1 RNU1-13P LOC105371226 PPIAL4G LOC100996763 LOC100996517 RNVU1-8 MIR5087 NUDT4P1 NBPF14 NBPF9 NBPF13P NBPF11 GPR89B MIR6077 ACP6 LOC101928979 LOC105371242 PDZK1P1 RNVU1-3 CH17-408M7.1 RNVU1-7 PRKAB2 NBPF12 NBPF10 NUDT4P2 LINC01138 GJA5 NOTCH2NL LOC100505824 LOC100132057 PDIA3P1 CHD1L FMO5

More Information

• Set Membership: Intragenic, Intronic, Non-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