JUP junction plakoglobin

Information
Symbol
JUP
Type
protein-coding
Description
junction plakoglobin
Entrez Gene ID
3728
Genome
hg19
Position
chr17:39,910,861-39,942,963
Genome
hg38
Position
chr17:41,754,609-41,786,711
MIM
173325 OMIM
HGNC
HGNC:6207 HGNC
Ensembl
ENSG00000173801 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 38
Likely pathogenic 0 10
Benign 0 146
Likely benign 0 792
Conflicting classifications of pathogenicity 0 266
Uncertain significance 0 1,150
Ranking
ClinVar
0
0
694
1,356
14
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CTNNG
SYNONYM DP3
SYNONYM DPIII
SYNONYM PDGB
SYNONYM PG
SYNONYM PKGB
MIM 173325 OMIM
HGNC HGNC:6207 HGNC
Ensembl ENSG00000173801 Ensembl
AllianceGenome HGNC:6207
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000310706.9 hg38 chr17 41,754,604 41,786,698 32,095
ENST00000393930.5 hg38 chr17 41,754,604 41,785,155 30,552
ENST00000393931.8 hg38 chr17 41,754,609 41,786,711 32,103
ENST00000393930.5 hg19 chr17 39,910,856 39,941,407 30,552
ENST00000310706.9 hg19 chr17 39,910,856 39,942,950 32,095
ENST00000393931.8 hg19 chr17 39,910,861 39,942,963 32,103
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