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

Chr.1:147759076 on build GRCh38
Cytoband
1q21.2
Assay ID Hs00286387_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 2 307 NP_005257.2
NM_181703.3 2 304 NP_859054.1
XM_005272951.4 2 657 XP_005273008.1
XM_017001044.1 3 2346 XP_016856533.1
BC013313.2 2 275 AAH13313.1
BQ231177.1 2 283
BQ924948.1 2 299
BT019415.1 1 163 AAV38222.1
BT019416.1 1 163 AAV38223.1
BX377692.2 2 304
DR003194.1 2 307
KJ534844.1 1 163

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

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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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