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

Chr.1:147909128 on build GRCh38
Cytoband
1q21.2
Assay ID Hs02227050_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 1226 NP_005258.2
XM_011509416.1 1 1973 XP_011507718.1
XM_011509417.1 1 1973 XP_011507719.1
AI364417.1 1 139
BQ184886.1 1 157
KJ534845.1 1 1173

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

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