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See other GJA5 CNV Assays ›
Gene Symbol
GJA5
Assay Reference Genome
Location

Chr.1:147773303 on build GRCh38
Cytoband
1q21.2
Assay ID Hs02863766_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 2702

Gene Name:

 gap junction protein alpha 5

Gene Aliases:

 ATFB11, CX40

Location:

 Chr.1:147756199-147781127 on Build GRCh38

Assay Gene Location:

 Within Exon 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GJA5 NM_005266.6 1 60 NP_005257.2
XM_005272951.4 XP_005273008.1
XM_017001044.1 1 113 XP_016856533.1
BQ231177.1
BQ924948.1 1 52
DR003194.1 1 62

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv3894123 Chr.1:147766386 - 147903855 on Build GRCh38 Gain GJA8 GJA5
dgv327n100 Chr.1:146028214 - 148860637 on Build GRCh38 Gain RNVU1-8 LINC00624 RNU1-13P GJA8 NBPF14 NBPF10 CHD1L LOC100505824 CH17-408M7.1 NBPF12 LOC105371242 PRKAB2 LOC100996517 MIR6077 LOC101927468 NUDT4P2 RNVU1-1 LOC284561 RNVU1-6 GPR89B NUDT4P1 ACP6 GJA5 RNVU1-7 HYDIN2 LOC100996763 PDE4DIP PPIAL4G LOC101928979 MIR5087 NOTCH2NL RNVU1-3 PDZK1P1 NBPF13P NBPF11 PDIA3P1 LOC100132057 BCL9 LINC01138 LOC105371226 LOC728989 FMO5
nsv1005055 Chr.1:145642988 - 148991068 on Build GRCh38 Loss RNVU1-8 RNU1-13P LIX1L GJA8 TXNIP RBM8A PEX11B CHD1L LOC100505824 NBPF12 LOC105371242 PDZK1 ITGA10 MIR6077 LOC101927468 CD160 RNVU1-1 RNVU1-6 HFE2 GJA5 PDE4DIP LOC101928979 MIR5087 RNVU1-3 PDZK1P1 RNF115 NBPF11 LINC01138 LOC105371226 LOC728989 FMO5 GNRHR2 PIAS3 LINC00624 NBPF14 NBPF10 MIR6736 GPR89A CH17-408M7.1 POLR3GL PRKAB2 LOC100996517 NUDT17 NUDT4P2 LOC284561 GPR89B NUDT4P1 ACP6 RNVU1-7 HYDIN2 LOC100996763 PPIAL4G NOTCH2NL ANKRD34A NBPF13P PDIA3P1 LOC100132057 ANKRD35 BCL9 POLR3C
esv2761299 Chr.1:146068341 - 148926801 on Build GRCh38 Gain+Loss RNVU1-8 LINC00624 RNU1-13P GJA8 NBPF14 NBPF10 CHD1L LOC100505824 CH17-408M7.1 NBPF12 LOC105371242 PRKAB2 LOC100996517 MIR6077 LOC101927468 NUDT4P2 RNVU1-1 LOC284561 GPR89B NUDT4P1 ACP6 GJA5 RNVU1-7 HYDIN2 LOC100996763 PDE4DIP PPIAL4G MIR5087 NOTCH2NL RNVU1-3 PDZK1P1 NBPF13P NBPF11 PDIA3P1 LOC100132057 BCL9 LINC01138 LOC105371226 LOC728989 FMO5
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion RNVU1-8 LINC00624 RNU1-13P LIX1L GJA8 TXNIP NBPF14 NBPF10 CHD1L LOC100505824 CH17-408M7.1 NBPF12 POLR3GL LOC105371242 PRKAB2 LOC100996517 MIR6077 LOC101927468 NUDT4P2 RNVU1-1 LOC284561 RNVU1-6 GPR89B NUDT4P1 HFE2 ACP6 GJA5 RNVU1-7 HYDIN2 LOC100996763 PDE4DIP PPIAL4G LOC101928979 MIR5087 NOTCH2NL ANKRD34A RNVU1-3 PDZK1P1 NBPF13P NBPF11 PDIA3P1 LOC100132057 BCL9 LINC01138 LOC105371226 LOC728989 FMO5
nsv831437 Chr.1:147762499 - 147920878 on Build GRCh38 Loss GJA8 GJA5
nsv1132304 Chr.1:146186094 - 148977674 on Build GRCh38 Duplication RNVU1-8 LINC00624 RNU1-13P GJA8 NBPF14 CHD1L LOC100505824 CH17-408M7.1 NBPF12 LOC105371242 PRKAB2 LOC100996517 MIR6077 LOC101927468 NUDT4P2 RNVU1-1 LOC284561 GPR89B NUDT4P1 ACP6 GJA5 RNVU1-7 HYDIN2 LOC100996763 PDE4DIP PPIAL4G MIR5087 NOTCH2NL RNVU1-3 PDZK1P1 NBPF13P NBPF11 PDIA3P1 LOC100132057 BCL9 LINC01138 LOC105371226 LOC728989 FMO5
nsv547677 Chr.1:147719707 - 147837308 on Build GRCh38 Gain GJA5
nsv997330 Chr.1:147713804 - 147841832 on Build GRCh38 Gain GJA5
nsv831426 Chr.1:147618125 - 147793153 on Build GRCh38 Loss BCL9 ACP6 GJA5
nsv1003688 Chr.1:146036817 - 148934526 on Build GRCh38 Gain RNVU1-8 LINC00624 RNU1-13P GJA8 NBPF14 NBPF10 CHD1L LOC100505824 CH17-408M7.1 NBPF12 LOC105371242 PRKAB2 LOC100996517 MIR6077 LOC101927468 NUDT4P2 RNVU1-1 LOC284561 RNVU1-6 GPR89B NUDT4P1 ACP6 GJA5 RNVU1-7 HYDIN2 LOC100996763 PDE4DIP PPIAL4G LOC101928979 MIR5087 NOTCH2NL RNVU1-3 PDZK1P1 NBPF13P NBPF11 PDIA3P1 LOC100132057 BCL9 LINC01138 LOC105371226 LOC728989 FMO5
dgv66e199 Chr.1:146055970 - 149056514 on Build GRCh38 Deletion RNVU1-8 LINC00624 RNU1-13P GJA8 NBPF14 NBPF10 CHD1L LOC100505824 CH17-408M7.1 NBPF12 LOC105371242 PRKAB2 LOC100996517 MIR6077 LOC101927468 NUDT4P2 RNVU1-1 LOC284561 GPR89B NUDT4P1 ACP6 GJA5 RNVU1-7 HYDIN2 LOC100996763 PDE4DIP PPIAL4G LOC101928979 MIR5087 NOTCH2NL RNVU1-3 PDZK1P1 NBPF13P NBPF9 NBPF11 PDIA3P1 LOC100132057 BCL9 LINC01138 LOC105371226 LOC728989 FMO5

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Panther Classification:

Molecular Function -

gap junction

Gene Ontology Categories:

Function(s) Process(es)


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