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

Chr.1:147757042 on build GRCh38
Cytoband
1q21.2
Assay ID Hs02573332_cn
Size
Availability Made To Order
Catalog # 4400291
Price 4,505.00
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4505.0
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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 2341 NP_005257.2
NM_181703.3 2 2338 NP_859054.1
XM_005272951.4 2 2691 XP_005273008.1
XM_017001044.1 3 4380 XP_016856533.1
AF074995.1 1 294

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

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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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