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

Chr.1:147766528 on build GRCh38
Cytoband
1q21.2
Assay ID Hs06572834_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 NUDT4P1 LOC100132057 LOC100996763 ACP6 PDE4DIP GPR89B RNU1-13P CHD1L NBPF12 LOC101927468 BCL9 RNVU1-1 PRKAB2 MIR5087 MIR6077 CH17-408M7.1 NOTCH2NL FMO5 LINC01138 RNVU1-6 LOC100996517 HYDIN2 RNVU1-7 LINC00624 NBPF10 LOC284561 RNVU1-3 PDZK1P1 LOC105371242 LOC728989 NUDT4P2 NBPF13P LOC105371226 LOC100505824 NBPF11 LOC101928979 GJA5 PDIA3P1 PPIAL4G NBPF14 RNVU1-8 GJA8
nsv1005055 Chr.1:145642988 - 148991068 on Build GRCh38 Loss NUDT4P1 ACP6 PDE4DIP RNU1-13P PIAS3 CHD1L NBPF12 LOC101927468 BCL9 RNVU1-1 ITGA10 CH17-408M7.1 TXNIP FMO5 RNVU1-6 LOC100996517 LINC00624 GNRHR2 RBM8A LIX1L PDZK1P1 NUDT17 LOC105371242 LOC728989 NUDT4P2 NBPF13P LOC100505824 NBPF11 GJA5 PDIA3P1 CD160 GJA8 PDZK1 POLR3C LOC100132057 ANKRD35 LOC100996763 ANKRD34A GPR89B POLR3GL PRKAB2 MIR5087 MIR6077 NOTCH2NL HFE2 LINC01138 HYDIN2 RNVU1-7 NBPF10 LOC284561 RNVU1-3 MIR6736 LOC105371226 LOC101928979 PEX11B GPR89A PPIAL4G NBPF14 RNVU1-8 RNF115
esv2761299 Chr.1:146068341 - 148926801 on Build GRCh38 Gain+Loss NUDT4P1 LOC100132057 LOC100996763 ACP6 PDE4DIP GPR89B RNU1-13P CHD1L NBPF12 LOC101927468 BCL9 RNVU1-1 PRKAB2 MIR5087 MIR6077 CH17-408M7.1 NOTCH2NL FMO5 LINC01138 LOC100996517 HYDIN2 RNVU1-7 LINC00624 NBPF10 LOC284561 RNVU1-3 PDZK1P1 LOC105371242 LOC728989 NUDT4P2 NBPF13P LOC105371226 LOC100505824 NBPF11 GJA5 PDIA3P1 PPIAL4G NBPF14 RNVU1-8 GJA8
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion NUDT4P1 LOC100132057 LOC100996763 ACP6 PDE4DIP ANKRD34A GPR89B RNU1-13P CHD1L NBPF12 LOC101927468 POLR3GL BCL9 RNVU1-1 PRKAB2 MIR5087 MIR6077 CH17-408M7.1 NOTCH2NL TXNIP FMO5 HFE2 LINC01138 RNVU1-6 LOC100996517 HYDIN2 RNVU1-7 LINC00624 NBPF10 LIX1L LOC284561 RNVU1-3 PDZK1P1 LOC105371242 LOC728989 NUDT4P2 NBPF13P LOC105371226 LOC100505824 NBPF11 LOC101928979 GJA5 PDIA3P1 PPIAL4G NBPF14 RNVU1-8 GJA8
nsv831437 Chr.1:147762499 - 147920878 on Build GRCh38 Loss GJA5 GJA8
nsv1132304 Chr.1:146186094 - 148977674 on Build GRCh38 Duplication NUDT4P1 LOC100132057 LOC100996763 ACP6 PDE4DIP GPR89B RNU1-13P CHD1L NBPF12 LOC101927468 BCL9 RNVU1-1 PRKAB2 MIR5087 MIR6077 CH17-408M7.1 NOTCH2NL FMO5 LINC01138 LOC100996517 HYDIN2 RNVU1-7 LINC00624 LOC284561 RNVU1-3 PDZK1P1 LOC105371242 LOC728989 NUDT4P2 NBPF13P LOC105371226 LOC100505824 NBPF11 GJA5 PDIA3P1 PPIAL4G NBPF14 RNVU1-8 GJA8
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 BCL9 GJA5 ACP6
nsv1003688 Chr.1:146036817 - 148934526 on Build GRCh38 Gain NUDT4P1 LOC100132057 LOC100996763 ACP6 PDE4DIP GPR89B RNU1-13P CHD1L NBPF12 LOC101927468 BCL9 RNVU1-1 PRKAB2 MIR5087 MIR6077 CH17-408M7.1 NOTCH2NL FMO5 LINC01138 RNVU1-6 LOC100996517 HYDIN2 RNVU1-7 LINC00624 NBPF10 LOC284561 RNVU1-3 PDZK1P1 LOC105371242 LOC728989 NUDT4P2 NBPF13P LOC105371226 LOC100505824 NBPF11 LOC101928979 GJA5 PDIA3P1 PPIAL4G NBPF14 RNVU1-8 GJA8
dgv66e199 Chr.1:146055970 - 149056514 on Build GRCh38 Deletion NUDT4P1 LOC100132057 LOC100996763 ACP6 PDE4DIP GPR89B RNU1-13P CHD1L NBPF12 LOC101927468 BCL9 RNVU1-1 PRKAB2 MIR5087 MIR6077 CH17-408M7.1 NOTCH2NL FMO5 LINC01138 LOC100996517 HYDIN2 RNVU1-7 LINC00624 NBPF10 LOC284561 RNVU1-3 PDZK1P1 LOC105371242 LOC728989 NUDT4P2 NBPF13P LOC105371226 LOC100505824 NBPF11 LOC101928979 GJA5 PDIA3P1 PPIAL4G NBPF14 RNVU1-8 NBPF9 GJA8

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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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