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

Chr.1:147908280 on build GRCh38
Cytoband
1q21.2
Assay ID Hs00146971_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 2 378 NP_005258.2
XM_011509416.1 1 1125 XP_011507718.1
XM_011509417.1 1 1125 XP_011507719.1
CD674975.1 2 378
DB476698.1
KJ534845.1 1 325

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

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