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

Chr.1:147908036 on build GRCh38
Cytoband
1q21.2
Assay ID Hs02814340_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 2 134 NP_005258.2
XM_011509416.1 1 881 XP_011507718.1
XM_011509417.1 1 881 XP_011507719.1
CD674975.1 2 134
KJ534845.1 1 81

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

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