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

Chr.1:147911038 on build GRCh38
Cytoband
1q21.2
Assay ID Hs05736085_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 Intron 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GJA8 XM_011509416.1 XP_011507718.1
XM_011509417.1 XP_011507719.1

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

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

gap junction

Gene Ontology Categories:

Function(s) Process(es)


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