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See other GJA8 CNV Assays ›
Gene Symbol
GJA8
Assay Reference Genome
Location

Chr.1:147907465 on build GRCh38
Cytoband
1q21.2
Assay ID Hs05738998_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

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 Exon 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GJA8 NM_005267.4 NP_005258.2
XM_011509416.1 1 310 XP_011507718.1
XM_011509417.1 1 310 XP_011507719.1
CD674975.1

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

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