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

Chr.1:147762630 on build GRCh38
Cytoband
1q21.2
Assay ID Hs05784180_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 Intron 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GJA5 NM_005266.6 NP_005257.2
XM_005272951.4 XP_005273008.1
XM_017001044.1 XP_016856533.1
BQ231177.1
BQ924948.1
DR003194.1

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 ITGA10 TXNIP BCL9 PPIAL4G PEX11B RNF115 FMO5 ACP6 GJA8 NOTCH2NL GJA5 MIR5087 POLR3C RNVU1-6 LOC100996517 PDE4DIP NBPF10 RBM8A LOC105371242 ANKRD34A HFE2 CD160 CHD1L PIAS3 POLR3GL GNRHR2 HYDIN2 LIX1L ANKRD35 LOC100996763 LOC101927468 LOC105371226 NBPF14 RNVU1-1 LOC284561 MIR6736 LINC00624 RNU1-13P NBPF13P RNVU1-7 LOC100505824 NUDT4P1 PRKAB2 GPR89A CH17-408M7.1 MIR6077 NUDT4P2 NBPF12 NBPF11 RNVU1-8 PDZK1 LOC101928979 RNVU1-3 GPR89B PDZK1P1 NUDT17 LINC01138 PDIA3P1 LOC728989 LOC100132057
dgv327n100 Chr.1:146028214 - 148860637 on Build GRCh38 Gain BCL9 PPIAL4G LINC00624 RNU1-13P FMO5 ACP6 NBPF13P GJA8 NOTCH2NL GJA5 RNVU1-7 LOC100505824 MIR5087 NUDT4P1 PRKAB2 RNVU1-6 CH17-408M7.1 LOC100996517 PDE4DIP NBPF10 MIR6077 NUDT4P2 LOC105371242 NBPF12 CHD1L NBPF11 RNVU1-8 LOC101928979 RNVU1-3 GPR89B HYDIN2 PDZK1P1 LOC100996763 LOC101927468 LINC01138 LOC105371226 NBPF14 PDIA3P1 RNVU1-1 LOC728989 LOC100132057 LOC284561
esv2761299 Chr.1:146068341 - 148926801 on Build GRCh38 Gain+Loss BCL9 PPIAL4G LINC00624 RNU1-13P FMO5 ACP6 NBPF13P GJA8 NOTCH2NL GJA5 RNVU1-7 LOC100505824 MIR5087 NUDT4P1 PRKAB2 CH17-408M7.1 LOC100996517 PDE4DIP NBPF10 MIR6077 NUDT4P2 LOC105371242 NBPF12 CHD1L NBPF11 RNVU1-8 RNVU1-3 GPR89B HYDIN2 PDZK1P1 LOC100996763 LOC101927468 LINC01138 LOC105371226 NBPF14 PDIA3P1 RNVU1-1 LOC728989 LOC100132057 LOC284561
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion TXNIP BCL9 PPIAL4G LINC00624 RNU1-13P FMO5 ACP6 NBPF13P GJA8 NOTCH2NL GJA5 RNVU1-7 LOC100505824 MIR5087 NUDT4P1 PRKAB2 RNVU1-6 CH17-408M7.1 LOC100996517 PDE4DIP NBPF10 MIR6077 NUDT4P2 LOC105371242 ANKRD34A HFE2 NBPF12 CHD1L NBPF11 RNVU1-8 LOC101928979 POLR3GL RNVU1-3 GPR89B HYDIN2 LIX1L PDZK1P1 LOC100996763 LOC101927468 LINC01138 LOC105371226 NBPF14 PDIA3P1 RNVU1-1 LOC728989 LOC100132057 LOC284561
nsv1132304 Chr.1:146186094 - 148977674 on Build GRCh38 Duplication BCL9 PPIAL4G LINC00624 RNU1-13P FMO5 ACP6 NBPF13P GJA8 NOTCH2NL GJA5 RNVU1-7 LOC100505824 MIR5087 NUDT4P1 PRKAB2 CH17-408M7.1 LOC100996517 PDE4DIP MIR6077 NUDT4P2 LOC105371242 NBPF12 CHD1L NBPF11 RNVU1-8 RNVU1-3 GPR89B HYDIN2 PDZK1P1 LOC100996763 LOC101927468 LINC01138 LOC105371226 NBPF14 PDIA3P1 RNVU1-1 LOC728989 LOC100132057 LOC284561
nsv831437 Chr.1:147762499 - 147920878 on Build GRCh38 Loss GJA8 GJA5
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 BCL9 PPIAL4G LINC00624 RNU1-13P FMO5 ACP6 NBPF13P GJA8 NOTCH2NL GJA5 RNVU1-7 LOC100505824 MIR5087 NUDT4P1 PRKAB2 RNVU1-6 CH17-408M7.1 LOC100996517 PDE4DIP NBPF10 MIR6077 NUDT4P2 LOC105371242 NBPF12 CHD1L NBPF11 RNVU1-8 LOC101928979 RNVU1-3 GPR89B HYDIN2 PDZK1P1 LOC100996763 LOC101927468 LINC01138 LOC105371226 NBPF14 PDIA3P1 RNVU1-1 LOC728989 LOC100132057 LOC284561
nsv831426 Chr.1:147618125 - 147793153 on Build GRCh38 Loss BCL9 GJA5 ACP6
dgv66e199 Chr.1:146055970 - 149056514 on Build GRCh38 Deletion BCL9 PPIAL4G LINC00624 RNU1-13P NBPF9 FMO5 ACP6 NBPF13P GJA8 NOTCH2NL GJA5 RNVU1-7 LOC100505824 MIR5087 NUDT4P1 PRKAB2 CH17-408M7.1 LOC100996517 PDE4DIP NBPF10 MIR6077 NUDT4P2 LOC105371242 NBPF12 CHD1L NBPF11 RNVU1-8 LOC101928979 RNVU1-3 GPR89B HYDIN2 PDZK1P1 LOC100996763 LOC101927468 LINC01138 LOC105371226 NBPF14 PDIA3P1 RNVU1-1 LOC728989 LOC100132057 LOC284561

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

gap junction

Gene Ontology Categories:

Function(s) Process(es)


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