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

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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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