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

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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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