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

Chr.1:147771897 on build GRCh38
Cytoband
1q21.2
Assay ID Hs05777430_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 GJA8 GJA5
dgv327n100 Chr.1:146028214 - 148860637 on Build GRCh38 Gain GJA8 PRKAB2 PDIA3P1 NBPF11 NUDT4P1 NBPF10 NBPF14 RNVU1-8 ACP6 MIR6077 LINC01138 LOC728989 RNVU1-3 HYDIN2 LOC101927468 LOC100996517 NUDT4P2 GJA5 RNVU1-1 LINC00624 MIR5087 LOC105371242 BCL9 NOTCH2NL PDZK1P1 FMO5 LOC100996763 PDE4DIP RNVU1-7 LOC101928979 NBPF12 LOC100132057 NBPF13P GPR89B RNU1-13P LOC105371226 PPIAL4G CHD1L RNVU1-6 LOC284561 CH17-408M7.1 LOC100505824
nsv1005055 Chr.1:145642988 - 148991068 on Build GRCh38 Loss GJA8 PRKAB2 PDIA3P1 ANKRD34A NBPF10 NBPF14 PIAS3 LIX1L LINC01138 RNVU1-3 PDZK1 NUDT4P2 PEX11B GJA5 RNVU1-1 POLR3C LOC105371242 NOTCH2NL RBM8A NUDT17 PDZK1P1 FMO5 NBPF12 LOC100132057 NBPF13P GPR89B RNU1-13P CHD1L LOC284561 CD160 NBPF11 NUDT4P1 RNVU1-8 GPR89A HFE2 ACP6 MIR6077 LOC728989 ITGA10 HYDIN2 LOC101927468 LOC100996517 LINC00624 MIR5087 RNF115 BCL9 MIR6736 LOC100996763 PDE4DIP GNRHR2 POLR3GL RNVU1-7 LOC101928979 ANKRD35 TXNIP LOC105371226 PPIAL4G RNVU1-6 CH17-408M7.1 LOC100505824
esv2761299 Chr.1:146068341 - 148926801 on Build GRCh38 Gain+Loss GJA8 PRKAB2 PDIA3P1 NBPF11 NUDT4P1 NBPF10 NBPF14 RNVU1-8 ACP6 MIR6077 LINC01138 LOC728989 RNVU1-3 HYDIN2 LOC101927468 LOC100996517 NUDT4P2 GJA5 RNVU1-1 LINC00624 MIR5087 LOC105371242 BCL9 NOTCH2NL PDZK1P1 FMO5 LOC100996763 PDE4DIP RNVU1-7 NBPF12 LOC100132057 NBPF13P GPR89B RNU1-13P LOC105371226 PPIAL4G CHD1L LOC284561 CH17-408M7.1 LOC100505824
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion GJA8 PRKAB2 PDIA3P1 NBPF11 ANKRD34A NUDT4P1 NBPF10 NBPF14 RNVU1-8 HFE2 LIX1L ACP6 MIR6077 LINC01138 LOC728989 RNVU1-3 HYDIN2 LOC101927468 LOC100996517 NUDT4P2 GJA5 RNVU1-1 LINC00624 MIR5087 LOC105371242 BCL9 NOTCH2NL PDZK1P1 FMO5 LOC100996763 PDE4DIP POLR3GL RNVU1-7 LOC101928979 NBPF12 TXNIP LOC100132057 NBPF13P GPR89B RNU1-13P LOC105371226 PPIAL4G CHD1L RNVU1-6 LOC284561 CH17-408M7.1 LOC100505824
nsv831437 Chr.1:147762499 - 147920878 on Build GRCh38 Loss GJA8 GJA5
nsv1132304 Chr.1:146186094 - 148977674 on Build GRCh38 Duplication GJA8 PRKAB2 PDIA3P1 NBPF11 NUDT4P1 NBPF14 RNVU1-8 ACP6 MIR6077 LINC01138 LOC728989 RNVU1-3 HYDIN2 LOC101927468 LOC100996517 NUDT4P2 GJA5 RNVU1-1 LINC00624 MIR5087 LOC105371242 BCL9 NOTCH2NL PDZK1P1 FMO5 LOC100996763 PDE4DIP RNVU1-7 NBPF12 LOC100132057 NBPF13P GPR89B RNU1-13P LOC105371226 PPIAL4G CHD1L LOC284561 CH17-408M7.1 LOC100505824
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 GJA8 PRKAB2 PDIA3P1 NBPF11 NUDT4P1 NBPF10 NBPF14 RNVU1-8 ACP6 MIR6077 LINC01138 LOC728989 RNVU1-3 HYDIN2 LOC101927468 LOC100996517 NUDT4P2 GJA5 RNVU1-1 LINC00624 MIR5087 LOC105371242 BCL9 NOTCH2NL PDZK1P1 FMO5 LOC100996763 PDE4DIP RNVU1-7 LOC101928979 NBPF12 LOC100132057 NBPF13P GPR89B RNU1-13P LOC105371226 PPIAL4G CHD1L RNVU1-6 LOC284561 CH17-408M7.1 LOC100505824
dgv66e199 Chr.1:146055970 - 149056514 on Build GRCh38 Deletion GJA8 PRKAB2 PDIA3P1 NBPF11 NUDT4P1 NBPF9 NBPF10 NBPF14 RNVU1-8 ACP6 MIR6077 LINC01138 LOC728989 RNVU1-3 HYDIN2 LOC101927468 LOC100996517 NUDT4P2 GJA5 RNVU1-1 LINC00624 MIR5087 LOC105371242 BCL9 NOTCH2NL PDZK1P1 FMO5 LOC100996763 PDE4DIP RNVU1-7 LOC101928979 NBPF12 LOC100132057 NBPF13P GPR89B RNU1-13P LOC105371226 PPIAL4G CHD1L LOC284561 CH17-408M7.1 LOC100505824

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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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