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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
dgv327n100 Chr.1:146028214 - 148860637 on Build GRCh38 Gain NUDT4P2 RNVU1-3 LOC100132057 PRKAB2 GJA8 GJA5 LOC105371226 RNVU1-8 NBPF10 RNVU1-6 HYDIN2 NBPF14 FMO5 LOC100996517 BCL9 GPR89B LINC00624 LOC101928979 NBPF12 ACP6 LINC01138 PDIA3P1 LOC284561 NOTCH2NL RNVU1-1 MIR6077 LOC101927468 NUDT4P1 CH17-408M7.1 LOC105371242 CHD1L RNU1-13P PDE4DIP LOC100505824 LOC728989 PPIAL4G MIR5087 RNVU1-7 PDZK1P1 LOC100996763 NBPF11 NBPF13P
nsv1005055 Chr.1:145642988 - 148991068 on Build GRCh38 Loss ANKRD35 PRKAB2 GJA5 LOC105371226 RNVU1-8 PDZK1 PEX11B LOC100996517 CD160 ACP6 MIR6077 NUDT4P1 NUDT17 GNRHR2 LOC105371242 MIR6736 CHD1L POLR3GL PIAS3 ITGA10 LOC728989 RNVU1-7 RBM8A PDZK1P1 LOC100996763 NBPF13P NUDT4P2 RNVU1-3 RNF115 LOC100132057 GJA8 NBPF10 GPR89A RNVU1-6 HYDIN2 NBPF14 FMO5 BCL9 GPR89B LINC00624 LOC101928979 NBPF12 LINC01138 PDIA3P1 LOC284561 NOTCH2NL RNVU1-1 LOC101927468 TXNIP CH17-408M7.1 HFE2 LIX1L ANKRD34A RNU1-13P PDE4DIP LOC100505824 PPIAL4G POLR3C MIR5087 NBPF11
esv2761299 Chr.1:146068341 - 148926801 on Build GRCh38 Gain+Loss NUDT4P2 RNVU1-3 LOC100132057 PRKAB2 GJA8 GJA5 LOC105371226 RNVU1-8 NBPF10 HYDIN2 NBPF14 FMO5 LOC100996517 BCL9 GPR89B LINC00624 NBPF12 ACP6 LINC01138 PDIA3P1 LOC284561 NOTCH2NL RNVU1-1 MIR6077 LOC101927468 NUDT4P1 CH17-408M7.1 LOC105371242 CHD1L RNU1-13P PDE4DIP LOC100505824 LOC728989 PPIAL4G MIR5087 RNVU1-7 PDZK1P1 LOC100996763 NBPF11 NBPF13P
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion NUDT4P2 RNVU1-3 LOC100132057 PRKAB2 GJA8 GJA5 LOC105371226 RNVU1-8 NBPF10 RNVU1-6 HYDIN2 NBPF14 FMO5 LOC100996517 BCL9 GPR89B LINC00624 LOC101928979 NBPF12 ACP6 LINC01138 PDIA3P1 LOC284561 NOTCH2NL RNVU1-1 MIR6077 LOC101927468 NUDT4P1 TXNIP CH17-408M7.1 LOC105371242 HFE2 CHD1L POLR3GL LIX1L ANKRD34A RNU1-13P PDE4DIP LOC100505824 LOC728989 PPIAL4G MIR5087 RNVU1-7 PDZK1P1 LOC100996763 NBPF11 NBPF13P
nsv1132304 Chr.1:146186094 - 148977674 on Build GRCh38 Duplication NUDT4P2 RNVU1-3 LOC100132057 PRKAB2 GJA8 GJA5 LOC105371226 RNVU1-8 HYDIN2 NBPF14 FMO5 LOC100996517 BCL9 GPR89B LINC00624 NBPF12 ACP6 LINC01138 PDIA3P1 LOC284561 NOTCH2NL RNVU1-1 MIR6077 LOC101927468 NUDT4P1 CH17-408M7.1 LOC105371242 CHD1L RNU1-13P PDE4DIP LOC100505824 LOC728989 PPIAL4G MIR5087 RNVU1-7 PDZK1P1 LOC100996763 NBPF11 NBPF13P
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 GJA5 BCL9 ACP6
nsv1003688 Chr.1:146036817 - 148934526 on Build GRCh38 Gain NUDT4P2 RNVU1-3 LOC100132057 PRKAB2 GJA8 GJA5 LOC105371226 RNVU1-8 NBPF10 RNVU1-6 HYDIN2 NBPF14 FMO5 LOC100996517 BCL9 GPR89B LINC00624 LOC101928979 NBPF12 ACP6 LINC01138 PDIA3P1 LOC284561 NOTCH2NL RNVU1-1 MIR6077 LOC101927468 NUDT4P1 CH17-408M7.1 LOC105371242 CHD1L RNU1-13P PDE4DIP LOC100505824 LOC728989 PPIAL4G MIR5087 RNVU1-7 PDZK1P1 LOC100996763 NBPF11 NBPF13P
dgv66e199 Chr.1:146055970 - 149056514 on Build GRCh38 Deletion NUDT4P2 RNVU1-3 LOC100132057 PRKAB2 GJA8 GJA5 LOC105371226 RNVU1-8 NBPF10 HYDIN2 NBPF14 FMO5 LOC100996517 BCL9 GPR89B LINC00624 LOC101928979 NBPF12 ACP6 LINC01138 PDIA3P1 LOC284561 NOTCH2NL RNVU1-1 MIR6077 NBPF9 LOC101927468 NUDT4P1 CH17-408M7.1 LOC105371242 CHD1L RNU1-13P PDE4DIP LOC100505824 LOC728989 PPIAL4G MIR5087 RNVU1-7 PDZK1P1 LOC100996763 NBPF11 NBPF13P

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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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