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