Hs06533085_cn

• Gene Symbol: GJA8
• Assay Reference Genome Location: Chr.1:147903750 on build GRCh38
• Cytoband: 1q21.2

Target Gene Details

• Entrez Gene ID: 2703
• Gene Name: gap junction protein alpha 8
• Gene Aliases: CAE, CAE1, CTRCT1, CX50, CZP1, MP70
• Location: Chr.1:147902820-147915287 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GJA8	NM_005267.4			NP_005258.2
	CD674975.1

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	GJA8 GJA5
nsv1005055	Chr.1:145642988 - 148991068 on Build GRCh38	Loss	PDZK1P1 LOC100505824 LOC100132057 GPR89A PEX11B RNVU1-6 GJA8 PRKAB2 MIR5087 HFE2 LOC284561 HYDIN2 CHD1L LOC728989 TXNIP GPR89B NUDT4P2 RNVU1-7 LOC105371226 NBPF10 LOC100996517 RBM8A POLR3C ANKRD35 NBPF14 CH17-408M7.1 RNF115 CD160 NOTCH2NL PDE4DIP MIR6077 ITGA10 MIR6736 LINC01138 ACP6 PIAS3 RNVU1-8 GNRHR2 RNU1-13P RNVU1-1 PPIAL4G NUDT4P1 LOC101927468 LOC101928979 NBPF11 LOC105371242 NUDT17 RNVU1-3 NBPF12 LINC00624 LOC100996763 FMO5 ANKRD34A PDIA3P1 PDZK1 LIX1L NBPF13P BCL9 GJA5 POLR3GL
dgv327n100	Chr.1:146028214 - 148860637 on Build GRCh38	Gain	NOTCH2NL PDE4DIP PDZK1P1 LOC100505824 LOC100132057 MIR6077 LINC01138 RNVU1-6 ACP6 RNVU1-8 GJA8 RNU1-13P PRKAB2 MIR5087 RNVU1-1 LOC284561 HYDIN2 PPIAL4G NUDT4P1 LOC101927468 CHD1L LOC728989 GPR89B NUDT4P2 LOC101928979 RNVU1-7 NBPF11 LOC105371226 NBPF10 LOC100996517 LOC105371242 NBPF14 RNVU1-3 NBPF12 LINC00624 LOC100996763 FMO5 PDIA3P1 NBPF13P CH17-408M7.1 BCL9 GJA5
nsv1000564	Chr.1:147867836 - 148359038 on Build GRCh38	Gain	GJA8 GPR89B RNVU1-7 MIR5087 NBPF11 LOC105371226 LOC284561 PDZK1P1 LOC100505824 LOC101927468
esv2761299	Chr.1:146068341 - 148926801 on Build GRCh38	Gain+Loss	NOTCH2NL PDE4DIP PDZK1P1 LOC100505824 LOC100132057 MIR6077 LINC01138 ACP6 RNVU1-8 GJA8 RNU1-13P PRKAB2 MIR5087 RNVU1-1 LOC284561 HYDIN2 PPIAL4G NUDT4P1 LOC101927468 CHD1L LOC728989 GPR89B NUDT4P2 RNVU1-7 NBPF11 LOC105371226 NBPF10 LOC100996517 LOC105371242 NBPF14 RNVU1-3 NBPF12 LINC00624 LOC100996763 FMO5 PDIA3P1 NBPF13P CH17-408M7.1 BCL9 GJA5
esv3587448	Chr.1:147776078 - 147927610 on Build GRCh38	Gain	GJA8 GJA5
nsv509457	Chr.1:145948024 - 149021821 on Build GRCh38	Insertion	NOTCH2NL PDE4DIP PDZK1P1 LOC100505824 LOC100132057 MIR6077 LINC01138 RNVU1-6 ACP6 RNVU1-8 GJA8 RNU1-13P PRKAB2 MIR5087 RNVU1-1 HFE2 LOC284561 HYDIN2 PPIAL4G NUDT4P1 LOC101927468 CHD1L LOC728989 TXNIP GPR89B NUDT4P2 LOC101928979 RNVU1-7 NBPF11 LOC105371226 NBPF10 LOC100996517 LOC105371242 NBPF14 RNVU1-3 NBPF12 LINC00624 LOC100996763 FMO5 ANKRD34A PDIA3P1 LIX1L NBPF13P CH17-408M7.1 BCL9 GJA5 POLR3GL
nsv1132304	Chr.1:146186094 - 148977674 on Build GRCh38	Duplication	NOTCH2NL PDE4DIP PDZK1P1 LOC100505824 LOC100132057 MIR6077 LINC01138 ACP6 RNVU1-8 GJA8 RNU1-13P PRKAB2 MIR5087 RNVU1-1 LOC284561 HYDIN2 PPIAL4G NUDT4P1 LOC101927468 CHD1L LOC728989 GPR89B NUDT4P2 RNVU1-7 NBPF11 LOC105371226 LOC100996517 LOC105371242 NBPF14 RNVU1-3 NBPF12 LINC00624 LOC100996763 FMO5 PDIA3P1 NBPF13P CH17-408M7.1 BCL9 GJA5
nsv831437	Chr.1:147762499 - 147920878 on Build GRCh38	Loss	GJA8 GJA5
nsv547678	Chr.1:147719707 - 147903855 on Build GRCh38	Gain	GJA8 GJA5
nsv1003688	Chr.1:146036817 - 148934526 on Build GRCh38	Gain	NOTCH2NL PDE4DIP PDZK1P1 LOC100505824 LOC100132057 MIR6077 LINC01138 RNVU1-6 ACP6 RNVU1-8 GJA8 RNU1-13P PRKAB2 MIR5087 RNVU1-1 LOC284561 HYDIN2 PPIAL4G NUDT4P1 LOC101927468 CHD1L LOC728989 GPR89B NUDT4P2 LOC101928979 RNVU1-7 NBPF11 LOC105371226 NBPF10 LOC100996517 LOC105371242 NBPF14 RNVU1-3 NBPF12 LINC00624 LOC100996763 FMO5 PDIA3P1 NBPF13P CH17-408M7.1 BCL9 GJA5
dgv66e199	Chr.1:146055970 - 149056514 on Build GRCh38	Deletion	NOTCH2NL PDE4DIP PDZK1P1 LOC100505824 LOC100132057 MIR6077 LINC01138 ACP6 RNVU1-8 GJA8 RNU1-13P PRKAB2 MIR5087 RNVU1-1 LOC284561 HYDIN2 PPIAL4G NUDT4P1 LOC101927468 CHD1L NBPF9 LOC728989 GPR89B NUDT4P2 LOC101928979 RNVU1-7 NBPF11 LOC105371226 NBPF10 LOC100996517 LOC105371242 NBPF14 RNVU1-3 NBPF12 LINC00624 LOC100996763 FMO5 PDIA3P1 NBPF13P CH17-408M7.1 BCL9 GJA5

More Information

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

Panther Classification:

Molecular Function -

gap junction

Gene Ontology Categories:

Process(es)

lens development in camera-type eye
transport
cell-cell signaling
visual perception
protein homooligomerization
transmembrane transport

Function(s)

gap junction channel activity
channel activity