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

Chr.1:147757380 on build GRCh38
Cytoband
1q21.2
Assay ID Hs00357845_cn
Size
Availability Made To Order
Catalog # 4400291
Price 475.00
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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 2003 NP_005257.2
NM_181703.3 2 2000 NP_859054.1
XM_005272951.4 2 2353 XP_005273008.1
XM_017001044.1 3 4042 XP_016856533.1
AF074995.1
BC013313.2 2 1971 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 GPR89B LOC728989 NBPF14 GJA5 FMO5 NOTCH2NL CHD1L NBPF13P LOC105371226 LOC101927468 RNVU1-8 CH17-408M7.1 MIR6077 LINC00624 LOC105371242 PDZK1P1 ACP6 HYDIN2 NUDT4P1 LINC01138 PRKAB2 BCL9 RNVU1-6 MIR5087 PDIA3P1 RNVU1-3 GJA8 LOC100996763 LOC101928979 LOC100996517 RNVU1-7 NBPF11 LOC284561 NBPF10 NBPF12 RNU1-13P LOC100132057 RNVU1-1 PPIAL4G PDE4DIP LOC100505824 NUDT4P2
nsv1005055 Chr.1:145642988 - 148991068 on Build GRCh38 Loss CHD1L RNF115 POLR3GL LOC101927468 RNVU1-8 GNRHR2 HFE2 CH17-408M7.1 MIR6077 LINC00624 LOC105371242 PDZK1P1 HYDIN2 NUDT4P1 LINC01138 PRKAB2 RBM8A GPR89A PIAS3 MIR5087 PDIA3P1 RNVU1-3 ANKRD35 RNVU1-7 POLR3C NBPF10 RNU1-13P RNVU1-1 ITGA10 GPR89B LOC728989 NBPF14 GJA5 FMO5 PDZK1 NOTCH2NL NBPF13P LOC105371226 MIR6736 ANKRD34A ACP6 BCL9 TXNIP RNVU1-6 GJA8 LOC100996763 LIX1L LOC101928979 LOC100996517 CD160 NBPF11 LOC284561 PEX11B NBPF12 LOC100132057 NUDT17 PPIAL4G PDE4DIP LOC100505824 NUDT4P2
esv2761299 Chr.1:146068341 - 148926801 on Build GRCh38 Gain+Loss GPR89B LOC728989 NBPF14 GJA5 FMO5 NOTCH2NL CHD1L NBPF13P LOC105371226 LOC101927468 RNVU1-8 CH17-408M7.1 MIR6077 LINC00624 LOC105371242 PDZK1P1 ACP6 HYDIN2 NUDT4P1 LINC01138 PRKAB2 BCL9 MIR5087 PDIA3P1 RNVU1-3 GJA8 LOC100996763 LOC100996517 RNVU1-7 NBPF11 LOC284561 NBPF10 NBPF12 RNU1-13P LOC100132057 RNVU1-1 PPIAL4G PDE4DIP LOC100505824 NUDT4P2
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion GPR89B LOC728989 NBPF14 GJA5 FMO5 NOTCH2NL CHD1L NBPF13P POLR3GL LOC105371226 LOC101927468 RNVU1-8 HFE2 ANKRD34A CH17-408M7.1 MIR6077 LINC00624 LOC105371242 PDZK1P1 ACP6 HYDIN2 NUDT4P1 LINC01138 PRKAB2 BCL9 TXNIP RNVU1-6 MIR5087 PDIA3P1 RNVU1-3 GJA8 LOC100996763 LIX1L LOC101928979 LOC100996517 RNVU1-7 NBPF11 LOC284561 NBPF10 NBPF12 RNU1-13P LOC100132057 RNVU1-1 PPIAL4G PDE4DIP LOC100505824 NUDT4P2
nsv1132304 Chr.1:146186094 - 148977674 on Build GRCh38 Duplication GPR89B LOC728989 NBPF14 GJA5 FMO5 NOTCH2NL CHD1L NBPF13P LOC105371226 LOC101927468 RNVU1-8 CH17-408M7.1 MIR6077 LINC00624 LOC105371242 PDZK1P1 ACP6 HYDIN2 NUDT4P1 LINC01138 PRKAB2 BCL9 MIR5087 PDIA3P1 RNVU1-3 GJA8 LOC100996763 LOC100996517 RNVU1-7 NBPF11 LOC284561 NBPF12 RNU1-13P LOC100132057 RNVU1-1 PPIAL4G PDE4DIP LOC100505824 NUDT4P2
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 GPR89B LOC728989 NBPF14 GJA5 FMO5 NOTCH2NL CHD1L NBPF13P LOC105371226 LOC101927468 RNVU1-8 CH17-408M7.1 MIR6077 LINC00624 LOC105371242 PDZK1P1 ACP6 HYDIN2 NUDT4P1 LINC01138 PRKAB2 BCL9 RNVU1-6 MIR5087 PDIA3P1 RNVU1-3 GJA8 LOC100996763 LOC101928979 LOC100996517 RNVU1-7 NBPF11 LOC284561 NBPF10 NBPF12 RNU1-13P LOC100132057 RNVU1-1 PPIAL4G PDE4DIP LOC100505824 NUDT4P2
dgv66e199 Chr.1:146055970 - 149056514 on Build GRCh38 Deletion GPR89B LOC728989 NBPF14 GJA5 FMO5 NOTCH2NL CHD1L NBPF13P LOC105371226 LOC101927468 RNVU1-8 CH17-408M7.1 MIR6077 LINC00624 LOC105371242 PDZK1P1 ACP6 HYDIN2 NUDT4P1 NBPF9 LINC01138 PRKAB2 BCL9 MIR5087 PDIA3P1 RNVU1-3 GJA8 LOC100996763 LOC101928979 LOC100996517 RNVU1-7 NBPF11 LOC284561 NBPF10 NBPF12 RNU1-13P LOC100132057 RNVU1-1 PPIAL4G PDE4DIP LOC100505824 NUDT4P2

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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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