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

Chr.1:147768115 on build GRCh38
Cytoband
1q21.2
Assay ID Hs04542773_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 Intron 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GJA5 NM_005266.6 NP_005257.2
XM_005272951.4 XP_005273008.1
XM_017001044.1 XP_016856533.1
BQ231177.1
BQ924948.1
DR003194.1

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

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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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