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

Chr.1:147758950 on build GRCh38
Cytoband
1q21.2
Assay ID Hs01403147_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 2 433 NP_005257.2
NM_181703.3 2 430 NP_859054.1
XM_005272951.4 2 783 XP_005273008.1
XM_017001044.1 3 2472 XP_016856533.1
BC013313.2 2 401 AAH13313.1
BQ231177.1 2 409
BQ924948.1 2 425
BT019415.1 1 289 AAV38222.1
BT019416.1 1 289 AAV38223.1
BX377692.2 2 430
DR003194.1 2 433
KJ534844.1 1 289

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

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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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