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

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