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

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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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