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

Chr.1:147758532 on build GRCh38
Cytoband
1q21.2
Assay ID Hs02173382_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 Exon 4
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GJA5 NM_005266.6 2 851 NP_005257.2
NM_181703.3 2 848 NP_859054.1
XM_005272951.4 2 1201 XP_005273008.1
XM_017001044.1 3 2890 XP_016856533.1
BC013313.2 2 819 AAH13313.1
BQ231177.1 2 827
BQ924948.1 2 843
BT019415.1 1 707 AAV38222.1
BT019416.1 1 707 AAV38223.1
BX377692.2 2 848
KJ534844.1 1 707

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1005055 Chr.1:145642988 - 148991068 on Build GRCh38 Loss PDE4DIP RBM8A ANKRD35 LOC100132057 GNRHR2 NOTCH2NL BCL9 LOC105371242 GJA5 PEX11B TXNIP NUDT4P1 CH17-408M7.1 NUDT17 CD160 ITGA10 LOC100996763 PDIA3P1 POLR3C RNVU1-6 LINC01138 POLR3GL ACP6 PDZK1 CHD1L LOC101927468 GJA8 LOC728989 LOC100505824 LOC100996517 LINC00624 RNVU1-7 PPIAL4G LOC101928979 RNVU1-3 GPR89B PRKAB2 LOC284561 NBPF12 NBPF13P RNF115 FMO5 RNVU1-1 PIAS3 PDZK1P1 NUDT4P2 RNU1-13P LIX1L HYDIN2 NBPF10 HFE2 MIR6736 GPR89A MIR5087 RNVU1-8 ANKRD34A MIR6077 NBPF11 NBPF14 LOC105371226
dgv327n100 Chr.1:146028214 - 148860637 on Build GRCh38 Gain PDE4DIP LOC100996517 LINC00624 LOC100132057 RNVU1-7 PPIAL4G LOC101928979 RNVU1-3 GPR89B NOTCH2NL PRKAB2 LOC284561 BCL9 LOC105371242 NBPF12 NBPF13P GJA5 FMO5 RNVU1-1 PDZK1P1 NUDT4P2 NUDT4P1 CH17-408M7.1 RNU1-13P HYDIN2 NBPF10 LOC100996763 PDIA3P1 RNVU1-6 MIR5087 RNVU1-8 LINC01138 ACP6 MIR6077 CHD1L LOC101927468 NBPF11 GJA8 NBPF14 LOC728989 LOC100505824 LOC105371226
esv2761299 Chr.1:146068341 - 148926801 on Build GRCh38 Gain+Loss PDE4DIP LOC100996517 LINC00624 LOC100132057 RNVU1-7 PPIAL4G RNVU1-3 GPR89B NOTCH2NL PRKAB2 LOC284561 BCL9 LOC105371242 NBPF12 NBPF13P GJA5 FMO5 RNVU1-1 PDZK1P1 NUDT4P2 NUDT4P1 CH17-408M7.1 RNU1-13P HYDIN2 NBPF10 LOC100996763 PDIA3P1 MIR5087 RNVU1-8 LINC01138 ACP6 MIR6077 CHD1L LOC101927468 NBPF11 GJA8 NBPF14 LOC728989 LOC100505824 LOC105371226
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion PDE4DIP LOC100996517 LINC00624 LOC100132057 RNVU1-7 PPIAL4G LOC101928979 RNVU1-3 GPR89B NOTCH2NL PRKAB2 LOC284561 BCL9 LOC105371242 NBPF12 NBPF13P GJA5 FMO5 RNVU1-1 PDZK1P1 TXNIP NUDT4P2 NUDT4P1 CH17-408M7.1 RNU1-13P LIX1L HYDIN2 NBPF10 LOC100996763 HFE2 PDIA3P1 RNVU1-6 MIR5087 RNVU1-8 LINC01138 POLR3GL ACP6 ANKRD34A MIR6077 CHD1L LOC101927468 NBPF11 GJA8 NBPF14 LOC728989 LOC100505824 LOC105371226
nsv1132304 Chr.1:146186094 - 148977674 on Build GRCh38 Duplication PDE4DIP LOC100996517 LINC00624 LOC100132057 RNVU1-7 PPIAL4G RNVU1-3 GPR89B NOTCH2NL PRKAB2 LOC284561 BCL9 LOC105371242 NBPF12 NBPF13P GJA5 FMO5 RNVU1-1 PDZK1P1 NUDT4P2 NUDT4P1 CH17-408M7.1 RNU1-13P HYDIN2 LOC100996763 PDIA3P1 MIR5087 RNVU1-8 LINC01138 ACP6 MIR6077 CHD1L LOC101927468 NBPF11 GJA8 NBPF14 LOC728989 LOC100505824 LOC105371226
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 PDE4DIP LOC100996517 LINC00624 LOC100132057 RNVU1-7 PPIAL4G LOC101928979 RNVU1-3 GPR89B NOTCH2NL PRKAB2 LOC284561 BCL9 LOC105371242 NBPF12 NBPF13P GJA5 FMO5 RNVU1-1 PDZK1P1 NUDT4P2 NUDT4P1 CH17-408M7.1 RNU1-13P HYDIN2 NBPF10 LOC100996763 PDIA3P1 RNVU1-6 MIR5087 RNVU1-8 LINC01138 ACP6 MIR6077 CHD1L LOC101927468 NBPF11 GJA8 NBPF14 LOC728989 LOC100505824 LOC105371226
nsv831426 Chr.1:147618125 - 147793153 on Build GRCh38 Loss ACP6 GJA5 BCL9
dgv66e199 Chr.1:146055970 - 149056514 on Build GRCh38 Deletion PDE4DIP LOC100996517 LINC00624 LOC100132057 RNVU1-7 PPIAL4G LOC101928979 RNVU1-3 GPR89B NOTCH2NL PRKAB2 LOC284561 BCL9 LOC105371242 NBPF12 NBPF13P GJA5 FMO5 RNVU1-1 PDZK1P1 NUDT4P2 NUDT4P1 CH17-408M7.1 RNU1-13P HYDIN2 NBPF10 LOC100996763 PDIA3P1 MIR5087 RNVU1-8 LINC01138 ACP6 NBPF9 MIR6077 CHD1L LOC101927468 NBPF11 GJA8 NBPF14 LOC728989 LOC100505824 LOC105371226

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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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