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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 GJA5 GJA8
nsv1005055 Chr.1:145642988 - 148991068 on Build GRCh38 Loss NBPF12 HFE2 LOC105371226 NOTCH2NL NBPF11 PPIAL4G PDZK1 LOC101928979 FMO5 LOC100132057 PIAS3 LOC105371242 PDIA3P1 HYDIN2 RNVU1-6 ANKRD35 RNF115 PRKAB2 ITGA10 RNVU1-7 LOC100505824 NBPF14 PDZK1P1 RNVU1-3 GNRHR2 NBPF10 POLR3GL RNVU1-8 LOC100996517 NUDT4P1 GPR89B RBM8A ANKRD34A NUDT17 BCL9 GJA5 LOC284561 NUDT4P2 POLR3C GPR89A GJA8 LOC728989 PEX11B LOC100996763 LOC101927468 PDE4DIP RNU1-13P MIR6077 NBPF13P LIX1L LINC01138 RNVU1-1 CD160 ACP6 CH17-408M7.1 MIR5087 MIR6736 TXNIP LINC00624 CHD1L
dgv327n100 Chr.1:146028214 - 148860637 on Build GRCh38 Gain NBPF14 NBPF12 LOC105371226 NOTCH2NL PDZK1P1 NBPF11 PPIAL4G RNVU1-3 NBPF10 RNVU1-8 LOC100996517 LOC101928979 NUDT4P1 GPR89B FMO5 LOC100132057 BCL9 GJA5 LOC284561 LOC105371242 PDIA3P1 NUDT4P2 HYDIN2 RNVU1-6 GJA8 LOC728989 LOC100996763 LOC101927468 PDE4DIP RNU1-13P MIR6077 NBPF13P LINC01138 RNVU1-1 ACP6 CH17-408M7.1 PRKAB2 RNVU1-7 MIR5087 LINC00624 LOC100505824 CHD1L
esv2761299 Chr.1:146068341 - 148926801 on Build GRCh38 Gain+Loss NBPF14 NBPF12 LOC105371226 NOTCH2NL PDZK1P1 NBPF11 PPIAL4G RNVU1-3 NBPF10 RNVU1-8 LOC100996517 NUDT4P1 GPR89B FMO5 LOC100132057 BCL9 GJA5 LOC284561 LOC105371242 PDIA3P1 NUDT4P2 HYDIN2 GJA8 LOC728989 LOC100996763 LOC101927468 PDE4DIP RNU1-13P MIR6077 NBPF13P LINC01138 RNVU1-1 ACP6 CH17-408M7.1 PRKAB2 RNVU1-7 MIR5087 LINC00624 LOC100505824 CHD1L
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion NBPF14 NBPF12 HFE2 LOC105371226 NOTCH2NL PDZK1P1 NBPF11 PPIAL4G RNVU1-3 NBPF10 POLR3GL RNVU1-8 LOC100996517 LOC101928979 NUDT4P1 GPR89B ANKRD34A FMO5 LOC100132057 BCL9 GJA5 LOC284561 LOC105371242 PDIA3P1 NUDT4P2 HYDIN2 RNVU1-6 GJA8 LOC728989 LOC100996763 LOC101927468 PDE4DIP RNU1-13P MIR6077 NBPF13P LIX1L LINC01138 RNVU1-1 ACP6 CH17-408M7.1 PRKAB2 RNVU1-7 MIR5087 TXNIP LINC00624 LOC100505824 CHD1L
nsv1132304 Chr.1:146186094 - 148977674 on Build GRCh38 Duplication NBPF14 NBPF12 LOC105371226 NOTCH2NL PDZK1P1 NBPF11 PPIAL4G RNVU1-3 RNVU1-8 LOC100996517 NUDT4P1 GPR89B FMO5 LOC100132057 BCL9 GJA5 LOC284561 LOC105371242 PDIA3P1 NUDT4P2 HYDIN2 GJA8 LOC728989 LOC100996763 LOC101927468 PDE4DIP RNU1-13P MIR6077 NBPF13P LINC01138 RNVU1-1 ACP6 CH17-408M7.1 PRKAB2 RNVU1-7 MIR5087 LINC00624 LOC100505824 CHD1L
nsv831437 Chr.1:147762499 - 147920878 on Build GRCh38 Loss GJA5 GJA8
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 NBPF14 NBPF12 LOC105371226 NOTCH2NL PDZK1P1 NBPF11 PPIAL4G RNVU1-3 NBPF10 RNVU1-8 LOC100996517 LOC101928979 NUDT4P1 GPR89B FMO5 LOC100132057 BCL9 GJA5 LOC284561 LOC105371242 PDIA3P1 NUDT4P2 HYDIN2 RNVU1-6 GJA8 LOC728989 LOC100996763 LOC101927468 PDE4DIP RNU1-13P MIR6077 NBPF13P LINC01138 RNVU1-1 ACP6 CH17-408M7.1 PRKAB2 RNVU1-7 MIR5087 LINC00624 LOC100505824 CHD1L
nsv831426 Chr.1:147618125 - 147793153 on Build GRCh38 Loss BCL9 ACP6 GJA5
dgv66e199 Chr.1:146055970 - 149056514 on Build GRCh38 Deletion NBPF14 NBPF12 LOC105371226 NOTCH2NL PDZK1P1 NBPF11 PPIAL4G RNVU1-3 NBPF10 RNVU1-8 NBPF9 LOC100996517 LOC101928979 NUDT4P1 GPR89B FMO5 LOC100132057 BCL9 GJA5 LOC284561 LOC105371242 PDIA3P1 NUDT4P2 HYDIN2 GJA8 LOC728989 LOC100996763 LOC101927468 PDE4DIP RNU1-13P MIR6077 NBPF13P LINC01138 RNVU1-1 ACP6 CH17-408M7.1 PRKAB2 RNVU1-7 MIR5087 LINC00624 LOC100505824 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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