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

Chr.1:147758726 on build GRCh38
Cytoband
1q21.2
Assay ID Hs00597111_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 2 657 NP_005257.2
NM_181703.3 2 654 NP_859054.1
XM_005272951.4 2 1007 XP_005273008.1
XM_017001044.1 3 2696 XP_016856533.1
BC013313.2 2 625 AAH13313.1
BQ231177.1 2 633
BQ924948.1 2 649
BT019415.1 1 513 AAV38222.1
BT019416.1 1 513 AAV38223.1
BX377692.2 2 654
DR003194.1
KJ534844.1 1 513

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

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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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