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

Chr.1:147908415 on build GRCh38
Cytoband
1q21.2
Assay ID Hs00956256_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 2 513 NP_005258.2
XM_011509416.1 1 1260 XP_011507718.1
XM_011509417.1 1 1260 XP_011507719.1
CD674975.1
DB476698.1 1 150
KJ534845.1 1 460

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

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