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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
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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
nsv1005055 Chr.1:145642988 - 148991068 on Build GRCh38 Loss PDZK1 LOC101928979 CHD1L NBPF11 CH17-408M7.1 NUDT4P2 MIR6736 LOC105371226 NBPF13P RNVU1-8 LIX1L NUDT4P1 NBPF14 MIR6077 RNVU1-3 GPR89A PDIA3P1 PIAS3 PPIAL4G LOC100505824 RNVU1-1 LINC01138 RNF115 LOC100132057 GJA8 ACP6 LOC728989 GJA5 ANKRD35 NBPF12 CD160 LOC284561 RNU1-13P RNVU1-6 LOC100996517 LOC100996763 BCL9 PDE4DIP PDZK1P1 LOC105371242 TXNIP PRKAB2 NUDT17 LOC101927468 HFE2 ITGA10 RBM8A POLR3GL HYDIN2 NOTCH2NL NBPF10 ANKRD34A GNRHR2 RNVU1-7 PEX11B POLR3C FMO5 LINC00624 MIR5087 GPR89B
dgv327n100 Chr.1:146028214 - 148860637 on Build GRCh38 Gain LOC284561 RNU1-13P RNVU1-6 LOC100996517 LOC100996763 BCL9 PDE4DIP LOC101928979 CHD1L PDZK1P1 LOC105371242 NBPF11 CH17-408M7.1 NUDT4P2 PRKAB2 LOC105371226 NBPF13P RNVU1-8 LOC101927468 NUDT4P1 NBPF14 MIR6077 HYDIN2 RNVU1-3 NOTCH2NL NBPF10 PDIA3P1 RNVU1-7 PPIAL4G LOC100505824 RNVU1-1 FMO5 LINC01138 LINC00624 MIR5087 GPR89B LOC100132057 GJA8 ACP6 LOC728989 GJA5 NBPF12
esv2761299 Chr.1:146068341 - 148926801 on Build GRCh38 Gain+Loss LOC284561 RNU1-13P LOC100996517 LOC100996763 BCL9 PDE4DIP CHD1L PDZK1P1 LOC105371242 NBPF11 CH17-408M7.1 NUDT4P2 PRKAB2 LOC105371226 NBPF13P RNVU1-8 LOC101927468 NUDT4P1 NBPF14 MIR6077 HYDIN2 RNVU1-3 NOTCH2NL NBPF10 PDIA3P1 RNVU1-7 PPIAL4G LOC100505824 RNVU1-1 FMO5 LINC01138 LINC00624 MIR5087 GPR89B LOC100132057 GJA8 ACP6 LOC728989 GJA5 NBPF12
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion LOC284561 RNU1-13P RNVU1-6 LOC100996517 LOC100996763 BCL9 PDE4DIP LOC101928979 CHD1L PDZK1P1 LOC105371242 TXNIP NBPF11 CH17-408M7.1 NUDT4P2 PRKAB2 LOC105371226 NBPF13P RNVU1-8 LOC101927468 LIX1L HFE2 NUDT4P1 NBPF14 MIR6077 POLR3GL HYDIN2 RNVU1-3 NOTCH2NL NBPF10 ANKRD34A PDIA3P1 RNVU1-7 PPIAL4G LOC100505824 RNVU1-1 FMO5 LINC01138 LINC00624 MIR5087 GPR89B LOC100132057 GJA8 ACP6 LOC728989 GJA5 NBPF12
nsv1132304 Chr.1:146186094 - 148977674 on Build GRCh38 Duplication LOC284561 RNU1-13P LOC100996517 LOC100996763 BCL9 PDE4DIP CHD1L PDZK1P1 LOC105371242 NBPF11 CH17-408M7.1 NUDT4P2 PRKAB2 LOC105371226 NBPF13P RNVU1-8 LOC101927468 NUDT4P1 NBPF14 MIR6077 HYDIN2 RNVU1-3 NOTCH2NL PDIA3P1 RNVU1-7 PPIAL4G LOC100505824 RNVU1-1 FMO5 LINC01138 LINC00624 MIR5087 GPR89B LOC100132057 GJA8 ACP6 LOC728989 GJA5 NBPF12
nsv997330 Chr.1:147713804 - 147841832 on Build GRCh38 Gain GJA5
nsv463506 Chr.1:147719707 - 147837308 on Build GRCh38 Gain GJA5
nsv1003688 Chr.1:146036817 - 148934526 on Build GRCh38 Gain LOC284561 RNU1-13P RNVU1-6 LOC100996517 LOC100996763 BCL9 PDE4DIP LOC101928979 CHD1L PDZK1P1 LOC105371242 NBPF11 CH17-408M7.1 NUDT4P2 PRKAB2 LOC105371226 NBPF13P RNVU1-8 LOC101927468 NUDT4P1 NBPF14 MIR6077 HYDIN2 RNVU1-3 NOTCH2NL NBPF10 PDIA3P1 RNVU1-7 PPIAL4G LOC100505824 RNVU1-1 FMO5 LINC01138 LINC00624 MIR5087 GPR89B LOC100132057 GJA8 ACP6 LOC728989 GJA5 NBPF12
nsv831426 Chr.1:147618125 - 147793153 on Build GRCh38 Loss BCL9 ACP6 GJA5
dgv66e199 Chr.1:146055970 - 149056514 on Build GRCh38 Deletion LOC284561 RNU1-13P LOC100996517 LOC100996763 BCL9 PDE4DIP NBPF9 LOC101928979 CHD1L PDZK1P1 LOC105371242 NBPF11 CH17-408M7.1 NUDT4P2 PRKAB2 LOC105371226 NBPF13P RNVU1-8 LOC101927468 NUDT4P1 NBPF14 MIR6077 HYDIN2 RNVU1-3 NOTCH2NL NBPF10 PDIA3P1 RNVU1-7 PPIAL4G LOC100505824 RNVU1-1 FMO5 LINC01138 LINC00624 MIR5087 GPR89B LOC100132057 GJA8 ACP6 LOC728989 GJA5 NBPF12

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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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