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

Chr.1:147757639 on build GRCh38
Cytoband
1q21.2
Assay ID Hs01412089_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 4
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GJA5 NM_005266.6 2 1744 NP_005257.2
NM_181703.3 2 1741 NP_859054.1
XM_005272951.4 2 2094 XP_005273008.1
XM_017001044.1 3 3783 XP_016856533.1
BC013313.2 2 1712 AAH13313.1

Target Copy Number Variation Details

DGV Version:

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

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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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