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

Chr.1:147758131 on build GRCh38
Cytoband
1q21.2
Assay ID Hs00435607_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 1252 NP_005257.2
NM_181703.3 2 1249 NP_859054.1
XM_005272951.4 2 1602 XP_005273008.1
XM_017001044.1 3 3291 XP_016856533.1
BC013313.2 2 1220 AAH13313.1
BT019415.1 AAV38222.1
BT019416.1 AAV38223.1
KJ534844.1

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

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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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