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

Chr.1:147759234 on build GRCh38
Cytoband
1q21.2
Assay ID Hs02123034_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:

 Overlaps Intron 3 - Exon 4
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GJA5 NM_005266.6 NP_005257.2
NM_181703.3 NP_859054.1
XM_005272951.4 XP_005273008.1
XM_017001044.1 XP_016856533.1
BC013313.2 AAH13313.1
BQ231177.1
BQ924948.1
BT019415.1 AAV38222.1
BT019416.1 AAV38223.1
BX377692.2
DR003194.1
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 LOC101928979 HYDIN2 BCL9 NBPF11 NOTCH2NL LOC100132057 LOC105371226 CH17-408M7.1 LOC101927468 CHD1L PRKAB2 NBPF14 LOC105371242 RNVU1-1 RNVU1-7 MIR5087 LOC284561 LINC00624 GJA5 NUDT4P2 NUDT4P1 NBPF12 NBPF10 FMO5 GPR89B MIR6077 RNVU1-6 GJA8 LOC728989 RNVU1-8 LOC100505824 RNU1-13P PDIA3P1 PDZK1P1 RNVU1-3 LOC100996763 ACP6 NBPF13P PPIAL4G PDE4DIP LOC100996517 LINC01138
nsv1005055 Chr.1:145642988 - 148991068 on Build GRCh38 Loss LOC101928979 NUDT17 NOTCH2NL GPR89A LOC100132057 CH17-408M7.1 PRKAB2 GNRHR2 RNF115 NBPF14 LOC105371242 ANKRD34A PDZK1 MIR5087 LOC284561 GJA5 NUDT4P2 FMO5 GPR89B RBM8A LOC728989 RNVU1-8 PDIA3P1 RNVU1-3 ACP6 NBPF13P PPIAL4G PDE4DIP HYDIN2 LIX1L BCL9 NBPF11 POLR3GL LOC105371226 CD160 LOC101927468 HFE2 CHD1L PEX11B ANKRD35 RNVU1-1 RNVU1-7 TXNIP MIR6736 ITGA10 PIAS3 LINC00624 NUDT4P1 NBPF12 NBPF10 MIR6077 RNVU1-6 GJA8 LOC100505824 RNU1-13P POLR3C PDZK1P1 LOC100996763 LOC100996517 LINC01138
esv2761299 Chr.1:146068341 - 148926801 on Build GRCh38 Gain+Loss HYDIN2 BCL9 NBPF11 NOTCH2NL LOC100132057 LOC105371226 CH17-408M7.1 LOC101927468 CHD1L PRKAB2 NBPF14 LOC105371242 RNVU1-1 RNVU1-7 MIR5087 LOC284561 LINC00624 GJA5 NUDT4P2 NUDT4P1 NBPF12 NBPF10 FMO5 GPR89B MIR6077 GJA8 LOC728989 RNVU1-8 LOC100505824 RNU1-13P PDIA3P1 PDZK1P1 RNVU1-3 LOC100996763 ACP6 NBPF13P PPIAL4G PDE4DIP LOC100996517 LINC01138
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion LOC101928979 HYDIN2 LIX1L BCL9 NBPF11 POLR3GL NOTCH2NL LOC100132057 LOC105371226 CH17-408M7.1 LOC101927468 HFE2 CHD1L PRKAB2 NBPF14 LOC105371242 RNVU1-1 ANKRD34A RNVU1-7 TXNIP MIR5087 LOC284561 LINC00624 GJA5 NUDT4P2 NUDT4P1 NBPF12 NBPF10 FMO5 GPR89B MIR6077 RNVU1-6 GJA8 LOC728989 RNVU1-8 LOC100505824 RNU1-13P PDIA3P1 PDZK1P1 RNVU1-3 LOC100996763 ACP6 NBPF13P PPIAL4G PDE4DIP LOC100996517 LINC01138
nsv1132304 Chr.1:146186094 - 148977674 on Build GRCh38 Duplication HYDIN2 BCL9 NBPF11 NOTCH2NL LOC100132057 LOC105371226 CH17-408M7.1 LOC101927468 CHD1L PRKAB2 NBPF14 LOC105371242 RNVU1-1 RNVU1-7 MIR5087 LOC284561 LINC00624 GJA5 NUDT4P2 NUDT4P1 NBPF12 FMO5 GPR89B MIR6077 GJA8 LOC728989 RNVU1-8 LOC100505824 RNU1-13P PDIA3P1 PDZK1P1 RNVU1-3 LOC100996763 ACP6 NBPF13P PPIAL4G PDE4DIP LOC100996517 LINC01138
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 BCL9 ACP6
nsv1003688 Chr.1:146036817 - 148934526 on Build GRCh38 Gain LOC101928979 HYDIN2 BCL9 NBPF11 NOTCH2NL LOC100132057 LOC105371226 CH17-408M7.1 LOC101927468 CHD1L PRKAB2 NBPF14 LOC105371242 RNVU1-1 RNVU1-7 MIR5087 LOC284561 LINC00624 GJA5 NUDT4P2 NUDT4P1 NBPF12 NBPF10 FMO5 GPR89B MIR6077 RNVU1-6 GJA8 LOC728989 RNVU1-8 LOC100505824 RNU1-13P PDIA3P1 PDZK1P1 RNVU1-3 LOC100996763 ACP6 NBPF13P PPIAL4G PDE4DIP LOC100996517 LINC01138
dgv66e199 Chr.1:146055970 - 149056514 on Build GRCh38 Deletion LOC101928979 HYDIN2 BCL9 NBPF11 NOTCH2NL LOC100132057 LOC105371226 CH17-408M7.1 LOC101927468 CHD1L PRKAB2 NBPF14 LOC105371242 RNVU1-1 RNVU1-7 MIR5087 LOC284561 LINC00624 GJA5 NUDT4P2 NUDT4P1 NBPF12 NBPF10 FMO5 GPR89B MIR6077 GJA8 LOC728989 RNVU1-8 LOC100505824 RNU1-13P PDIA3P1 NBPF9 PDZK1P1 RNVU1-3 LOC100996763 ACP6 NBPF13P PPIAL4G PDE4DIP LOC100996517 LINC01138

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More Information


Set Membership:

 Intragenic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

gap junction

Gene Ontology Categories:

Function(s) Process(es)


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