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

Chr.1:147758266 on build GRCh38
Cytoband
1q21.2
Assay ID Hs02241779_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 1117 NP_005257.2
NM_181703.3 2 1114 NP_859054.1
XM_005272951.4 2 1467 XP_005273008.1
XM_017001044.1 3 3156 XP_016856533.1
BC013313.2 2 1085 AAH13313.1
BT019415.1 1 973 AAV38222.1
BT019416.1 1 973 AAV38223.1
BX377692.2
KJ534844.1 1 973

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

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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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