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

Chr.1:147769155 on build GRCh38
Cytoband
1q21.2
Assay ID Hs05791838_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
dgv327n100 Chr.1:146028214 - 148860637 on Build GRCh38 Gain FMO5 LOC100505824 NUDT4P2 HYDIN2 RNVU1-7 LOC105371242 GPR89B PRKAB2 MIR6077 LOC728989 NUDT4P1 NBPF14 LOC105371226 LOC101928979 NOTCH2NL LOC284561 PDE4DIP MIR5087 NBPF10 BCL9 PPIAL4G GJA5 CH17-408M7.1 RNVU1-8 NBPF11 NBPF13P GJA8 RNVU1-6 LINC00624 PDZK1P1 LOC100996517 ACP6 RNU1-13P CHD1L LOC100132057 PDIA3P1 LOC101927468 RNVU1-3 NBPF12 RNVU1-1 LOC100996763 LINC01138
nsv1005055 Chr.1:145642988 - 148991068 on Build GRCh38 Loss PEX11B FMO5 NUDT4P2 HYDIN2 ANKRD35 LOC105371242 GPR89A NUDT17 POLR3GL NBPF14 LOC105371226 PDE4DIP MIR5087 PPIAL4G CH17-408M7.1 NBPF13P GJA8 RNF115 PDZK1P1 ANKRD34A LOC100996517 CHD1L PDZK1 PIAS3 RNVU1-1 LOC100996763 LINC01138 RBM8A LOC100505824 RNVU1-7 GPR89B PRKAB2 MIR6077 LOC728989 NUDT4P1 LOC101928979 NOTCH2NL LOC284561 NBPF10 ITGA10 LIX1L BCL9 POLR3C GJA5 RNVU1-8 NBPF11 HFE2 MIR6736 RNVU1-6 GNRHR2 LINC00624 ACP6 RNU1-13P TXNIP LOC100132057 PDIA3P1 CD160 LOC101927468 RNVU1-3 NBPF12
esv2761299 Chr.1:146068341 - 148926801 on Build GRCh38 Gain+Loss FMO5 LOC100505824 NUDT4P2 HYDIN2 RNVU1-7 LOC105371242 GPR89B PRKAB2 MIR6077 LOC728989 NUDT4P1 NBPF14 LOC105371226 NOTCH2NL LOC284561 PDE4DIP MIR5087 NBPF10 BCL9 PPIAL4G GJA5 CH17-408M7.1 RNVU1-8 NBPF11 NBPF13P GJA8 LINC00624 PDZK1P1 LOC100996517 ACP6 RNU1-13P CHD1L LOC100132057 PDIA3P1 LOC101927468 RNVU1-3 NBPF12 RNVU1-1 LOC100996763 LINC01138
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion FMO5 LOC100505824 NUDT4P2 HYDIN2 RNVU1-7 LOC105371242 GPR89B PRKAB2 MIR6077 LOC728989 POLR3GL NUDT4P1 NBPF14 LOC105371226 LOC101928979 NOTCH2NL LOC284561 PDE4DIP MIR5087 NBPF10 LIX1L BCL9 PPIAL4G GJA5 CH17-408M7.1 RNVU1-8 NBPF11 HFE2 NBPF13P GJA8 RNVU1-6 LINC00624 PDZK1P1 ANKRD34A LOC100996517 ACP6 RNU1-13P CHD1L TXNIP LOC100132057 PDIA3P1 LOC101927468 RNVU1-3 NBPF12 RNVU1-1 LOC100996763 LINC01138
nsv831437 Chr.1:147762499 - 147920878 on Build GRCh38 Loss GJA5 GJA8
nsv1132304 Chr.1:146186094 - 148977674 on Build GRCh38 Duplication FMO5 LOC100505824 NUDT4P2 HYDIN2 RNVU1-7 LOC105371242 GPR89B PRKAB2 MIR6077 LOC728989 NUDT4P1 NBPF14 LOC105371226 NOTCH2NL LOC284561 PDE4DIP MIR5087 BCL9 PPIAL4G GJA5 CH17-408M7.1 RNVU1-8 NBPF11 NBPF13P GJA8 LINC00624 PDZK1P1 LOC100996517 ACP6 RNU1-13P CHD1L LOC100132057 PDIA3P1 LOC101927468 RNVU1-3 NBPF12 RNVU1-1 LOC100996763 LINC01138
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 FMO5 LOC100505824 NUDT4P2 HYDIN2 RNVU1-7 LOC105371242 GPR89B PRKAB2 MIR6077 LOC728989 NUDT4P1 NBPF14 LOC105371226 LOC101928979 NOTCH2NL LOC284561 PDE4DIP MIR5087 NBPF10 BCL9 PPIAL4G GJA5 CH17-408M7.1 RNVU1-8 NBPF11 NBPF13P GJA8 RNVU1-6 LINC00624 PDZK1P1 LOC100996517 ACP6 RNU1-13P CHD1L LOC100132057 PDIA3P1 LOC101927468 RNVU1-3 NBPF12 RNVU1-1 LOC100996763 LINC01138
dgv66e199 Chr.1:146055970 - 149056514 on Build GRCh38 Deletion FMO5 LOC100505824 NUDT4P2 HYDIN2 RNVU1-7 LOC105371242 GPR89B PRKAB2 MIR6077 LOC728989 NUDT4P1 NBPF9 NBPF14 LOC105371226 LOC101928979 NOTCH2NL LOC284561 PDE4DIP MIR5087 NBPF10 BCL9 PPIAL4G GJA5 CH17-408M7.1 RNVU1-8 NBPF11 NBPF13P GJA8 LINC00624 PDZK1P1 LOC100996517 ACP6 RNU1-13P CHD1L LOC100132057 PDIA3P1 LOC101927468 RNVU1-3 NBPF12 RNVU1-1 LOC100996763 LINC01138

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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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