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

Chr.1:147770911 on build GRCh38
Cytoband
1q21.2
Assay ID Hs06578107_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 LOC728989 NBPF11 LOC284561 GPR89B PDE4DIP PRKAB2 LOC100996763 NBPF14 GJA5 RNVU1-3 RNVU1-8 LINC00624 LOC105371242 RNVU1-1 LINC01138 LOC100996517 PPIAL4G BCL9 MIR5087 NBPF10 NUDT4P1 GJA8 CH17-408M7.1 ACP6 RNVU1-7 NBPF12 FMO5 MIR6077 PDZK1P1 PDIA3P1 RNVU1-6 NUDT4P2 LOC101928979 LOC101927468 LOC100505824 LOC100132057 NBPF13P HYDIN2 NOTCH2NL RNU1-13P LOC105371226 CHD1L
nsv1005055 Chr.1:145642988 - 148991068 on Build GRCh38 Loss PRKAB2 NBPF14 CD160 GNRHR2 RNVU1-3 LINC00624 GPR89A LINC01138 LOC100996517 PPIAL4G BCL9 MIR5087 PIAS3 NUDT4P1 TXNIP RNVU1-7 NBPF12 FMO5 PEX11B ANKRD35 MIR6736 ANKRD34A LOC100505824 LOC100132057 NBPF13P HYDIN2 LOC728989 NBPF11 LOC284561 GPR89B PDE4DIP LOC100996763 GJA5 RBM8A RNVU1-8 RNF115 POLR3C LOC105371242 RNVU1-1 POLR3GL ITGA10 LIX1L NBPF10 GJA8 NUDT17 CH17-408M7.1 ACP6 MIR6077 PDZK1P1 PDIA3P1 RNVU1-6 NUDT4P2 LOC101928979 HFE2 LOC101927468 NOTCH2NL RNU1-13P LOC105371226 CHD1L PDZK1
esv2761299 Chr.1:146068341 - 148926801 on Build GRCh38 Gain+Loss LOC728989 NBPF11 LOC284561 GPR89B PDE4DIP PRKAB2 LOC100996763 NBPF14 GJA5 RNVU1-3 RNVU1-8 LINC00624 LOC105371242 RNVU1-1 LINC01138 LOC100996517 PPIAL4G BCL9 MIR5087 NBPF10 NUDT4P1 GJA8 CH17-408M7.1 ACP6 RNVU1-7 NBPF12 FMO5 MIR6077 PDZK1P1 PDIA3P1 NUDT4P2 LOC101927468 LOC100505824 LOC100132057 NBPF13P HYDIN2 NOTCH2NL RNU1-13P LOC105371226 CHD1L
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion LOC728989 NBPF11 LOC284561 GPR89B PDE4DIP PRKAB2 LOC100996763 NBPF14 GJA5 RNVU1-3 RNVU1-8 LINC00624 LOC105371242 RNVU1-1 POLR3GL LINC01138 LOC100996517 PPIAL4G LIX1L BCL9 MIR5087 NBPF10 NUDT4P1 TXNIP GJA8 CH17-408M7.1 ACP6 RNVU1-7 NBPF12 FMO5 MIR6077 PDZK1P1 PDIA3P1 RNVU1-6 NUDT4P2 LOC101928979 HFE2 LOC101927468 ANKRD34A LOC100505824 LOC100132057 NBPF13P HYDIN2 NOTCH2NL RNU1-13P LOC105371226 CHD1L
nsv831437 Chr.1:147762499 - 147920878 on Build GRCh38 Loss GJA8 GJA5
nsv1132304 Chr.1:146186094 - 148977674 on Build GRCh38 Duplication LOC728989 NBPF11 LOC284561 GPR89B PDE4DIP PRKAB2 LOC100996763 NBPF14 GJA5 RNVU1-3 RNVU1-8 LINC00624 LOC105371242 RNVU1-1 LINC01138 LOC100996517 PPIAL4G BCL9 MIR5087 NUDT4P1 GJA8 CH17-408M7.1 ACP6 RNVU1-7 NBPF12 FMO5 MIR6077 PDZK1P1 PDIA3P1 NUDT4P2 LOC101927468 LOC100505824 LOC100132057 NBPF13P HYDIN2 NOTCH2NL RNU1-13P LOC105371226 CHD1L
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 GJA5 BCL9
nsv1003688 Chr.1:146036817 - 148934526 on Build GRCh38 Gain LOC728989 NBPF11 LOC284561 GPR89B PDE4DIP PRKAB2 LOC100996763 NBPF14 GJA5 RNVU1-3 RNVU1-8 LINC00624 LOC105371242 RNVU1-1 LINC01138 LOC100996517 PPIAL4G BCL9 MIR5087 NBPF10 NUDT4P1 GJA8 CH17-408M7.1 ACP6 RNVU1-7 NBPF12 FMO5 MIR6077 PDZK1P1 PDIA3P1 RNVU1-6 NUDT4P2 LOC101928979 LOC101927468 LOC100505824 LOC100132057 NBPF13P HYDIN2 NOTCH2NL RNU1-13P LOC105371226 CHD1L
dgv66e199 Chr.1:146055970 - 149056514 on Build GRCh38 Deletion LOC728989 NBPF11 LOC284561 GPR89B PDE4DIP PRKAB2 LOC100996763 NBPF14 GJA5 RNVU1-3 RNVU1-8 LINC00624 LOC105371242 RNVU1-1 LINC01138 LOC100996517 NBPF9 PPIAL4G BCL9 MIR5087 NBPF10 NUDT4P1 GJA8 CH17-408M7.1 ACP6 RNVU1-7 NBPF12 FMO5 MIR6077 PDZK1P1 PDIA3P1 NUDT4P2 LOC101928979 LOC101927468 LOC100505824 LOC100132057 NBPF13P HYDIN2 NOTCH2NL RNU1-13P LOC105371226 CHD1L

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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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