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

Chr.1:147908721 on build GRCh38
Cytoband
1q21.2
Assay ID Hs02290971_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 2 819 NP_005258.2
XM_011509416.1 1 1566 XP_011507718.1
XM_011509417.1 1 1566 XP_011507719.1
BQ184886.1
DB476698.1 1 456
KJ534845.1 1 766

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

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