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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for JUP

check button Gene summary
Gene informationGene symbol

JUP

Gene ID

3728

Gene namejunction plakoglobin
SynonymsCTNNG|DP3|DPIII|PDGB|PKGB
Cytomap

17q21.2

Type of geneprotein-coding
Descriptionjunction plakoglobincatenin (cadherin-associated protein), gamma 80kDadesmoplakin IIIdesmoplakin-3
Modification date20180523
UniProtAcc

P14923

ContextPubMed: JUP [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
JUP

GO:0002159

desmosome assembly

22889254

JUP

GO:0042127

regulation of cell proliferation

17924338

JUP

GO:0042307

positive regulation of protein import into nucleus

10825188|14661054

JUP

GO:0050982

detection of mechanical stimulus

18937352

JUP

GO:0051091

positive regulation of DNA binding transcription factor activity

14661054

JUP

GO:0071681

cellular response to indole-3-methanol

10868478

JUP

GO:0098609

cell-cell adhesion

18937352


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Exon skipping events across known transcript of Ensembl for JUP from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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Gene isoform structures and expression levels for JUP

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for JUP

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_2896231739910855:39911684:39911981:39912147:39912426:3991246639911981:39912147ENSG00000173801.12ENST00000393930.1,ENST00000310706.5
exon_skip_2896271739913885:39914036:39914650:39914770:39914966:3991512239914650:39914770ENSG00000173801.12ENST00000393930.1,ENST00000393931.3,ENST00000310706.5
exon_skip_2896331739914966:39915122:39919234:39919573:39920964:3992106839919234:39919573ENSG00000173801.12ENST00000393930.1,ENST00000393931.3,ENST00000310706.5
exon_skip_2896381739919234:39919573:39920964:39921068:39921174:3992131939920964:39921068ENSG00000173801.12ENST00000393930.1,ENST00000393931.3,ENST00000310706.5
exon_skip_2896421739921174:39921319:39923630:39923832:39925220:3992537539923630:39923832ENSG00000173801.12ENST00000393930.1,ENST00000393931.3,ENST00000310706.5
exon_skip_2896451739925220:39925459:39925669:39925929:39927898:3992810639925669:39925929ENSG00000173801.12ENST00000393930.1,ENST00000393931.3,ENST00000449889.1,ENST00000310706.5,ENST00000420370.1,ENST00000424457.1,ENST00000437187.1
exon_skip_2896901739928098:39928114:39929069:39929178:39941198:3994140739929069:39929178ENSG00000173801.12ENST00000437369.1
exon_skip_2896921739928098:39928114:39929069:39929178:39942154:3994232239929069:39929178ENSG00000173801.12ENST00000465293.1
exon_skip_2896971739928098:39928114:39929069:39929178:39942839:3994295039929069:39929178ENSG00000173801.12ENST00000424457.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for JUP

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_2896231739910855:39911684:39911981:39912147:39912426:3991246639911981:39912147ENSG00000173801.12ENST00000393930.1,ENST00000310706.5
exon_skip_2896271739913885:39914036:39914650:39914770:39914966:3991512239914650:39914770ENSG00000173801.12ENST00000393930.1,ENST00000310706.5,ENST00000393931.3
exon_skip_2896331739914966:39915122:39919234:39919573:39920964:3992106839919234:39919573ENSG00000173801.12ENST00000393930.1,ENST00000310706.5,ENST00000393931.3
exon_skip_2896381739919234:39919573:39920964:39921068:39921174:3992131939920964:39921068ENSG00000173801.12ENST00000393930.1,ENST00000310706.5,ENST00000393931.3
exon_skip_2896421739921174:39921319:39923630:39923832:39925220:3992537539923630:39923832ENSG00000173801.12ENST00000393930.1,ENST00000310706.5,ENST00000393931.3
exon_skip_2896451739925220:39925459:39925669:39925929:39927898:3992810639925669:39925929ENSG00000173801.12ENST00000393930.1,ENST00000310706.5,ENST00000393931.3,ENST00000449889.1,ENST00000437187.1,ENST00000420370.1,ENST00000424457.1
exon_skip_2896901739928098:39928114:39929069:39929178:39941198:3994140739929069:39929178ENSG00000173801.12ENST00000437369.1
exon_skip_2896921739928098:39928114:39929069:39929178:39942154:3994232239929069:39929178ENSG00000173801.12ENST00000465293.1
exon_skip_2896971739928098:39928114:39929069:39929178:39942839:3994295039929069:39929178ENSG00000173801.12ENST00000424457.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for JUP

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000031070639911981399121475CDS-5UTR
ENST0000039393039911981399121475CDS-5UTR
ENST000003107063992096439921068Frame-shift
ENST000003939303992096439921068Frame-shift
ENST000003939313992096439921068Frame-shift
ENST000003107063992363039923832Frame-shift
ENST000003939303992363039923832Frame-shift
ENST000003939313992363039923832Frame-shift
ENST000003107063992566939925929Frame-shift
ENST000003939303992566939925929Frame-shift
ENST000003939313992566939925929Frame-shift
ENST000003107063991465039914770In-frame
ENST000003939303991465039914770In-frame
ENST000003939313991465039914770In-frame
ENST000003107063991923439919573In-frame
ENST000003939303991923439919573In-frame
ENST000003939313991923439919573In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000031070639911981399121475CDS-5UTR
ENST0000039393039911981399121475CDS-5UTR
ENST000003107063992096439921068Frame-shift
ENST000003939303992096439921068Frame-shift
ENST000003939313992096439921068Frame-shift
ENST000003107063992363039923832Frame-shift
ENST000003939303992363039923832Frame-shift
ENST000003939313992363039923832Frame-shift
ENST000003107063992566939925929Frame-shift
ENST000003939303992566939925929Frame-shift
ENST000003939313992566939925929Frame-shift
ENST000003107063991465039914770In-frame
ENST000003939303991465039914770In-frame
ENST000003939313991465039914770In-frame
ENST000003107063991923439919573In-frame
ENST000003939303991923439919573In-frame
ENST000003939313991923439919573In-frame

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Infer the effects of exon skipping event on protein functional features for JUP

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003107063217745399192343991957312781616386499
ENST000003939303315745399192343991957313761714386499
ENST000003939313514745399192343991957312781616386499
ENST000003107063217745399146503991477017731892551591
ENST000003939303315745399146503991477018711990551591
ENST000003939313514745399146503991477017731892551591

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003107063217745399192343991957312781616386499
ENST000003939303315745399192343991957313761714386499
ENST000003939313514745399192343991957312781616386499
ENST000003107063217745399146503991477017731892551591
ENST000003939303315745399146503991477018711990551591
ENST000003939313514745399146503991477017731892551591

check button Lost protein functional features of individual exon skipping events in TCGA.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
P14923386499464466Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499464466Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499464466Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P149233864991745ChainID=PRO_0000064278;Note=Junction plakoglobin
P149233864991745ChainID=PRO_0000064278;Note=Junction plakoglobin
P149233864991745ChainID=PRO_0000064278;Note=Junction plakoglobin
P14923386499390397HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499390397HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499390397HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499405418HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499405418HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499405418HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499423429HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499423429HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499423429HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499434445HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499434445HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499434445HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499449462HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499449462HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499449462HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499469477HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499469477HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499469477HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499481487HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499481487HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499481487HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499488490HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499488490HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499488490HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499495508HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499495508HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499495508HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499383420RepeatNote=ARM 7
P14923386499383420RepeatNote=ARM 7
P14923386499383420RepeatNote=ARM 7
P14923386499423464RepeatNote=ARM 8
P14923386499423464RepeatNote=ARM 8
P14923386499423464RepeatNote=ARM 8
P14923386499470510RepeatNote=ARM 9
P14923386499470510RepeatNote=ARM 9
P14923386499470510RepeatNote=ARM 9
P14923386499398401TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499398401TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499398401TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499419421TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499419421TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499419421TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499430433TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499430433TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499430433TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499478480TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499478480TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499478480TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P149235515911745ChainID=PRO_0000064278;Note=Junction plakoglobin
P149235515911745ChainID=PRO_0000064278;Note=Junction plakoglobin
P149235515911745ChainID=PRO_0000064278;Note=Junction plakoglobin
P14923551591556570HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923551591556570HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923551591556570HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923551591574582HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923551591574582HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923551591574582HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923551591586592HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923551591586592HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923551591586592HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923551591574661RegionNote=Interaction with DSC1
P14923551591574661RegionNote=Interaction with DSC1
P14923551591574661RegionNote=Interaction with DSC1
P14923551591512551RepeatNote=ARM 10
P14923551591512551RepeatNote=ARM 10
P14923551591512551RepeatNote=ARM 10
P14923551591574613RepeatNote=ARM 11
P14923551591574613RepeatNote=ARM 11
P14923551591574613RepeatNote=ARM 11


check button Lost protein functional features of individual exon skipping events in GTEx.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
P14923386499464466Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499464466Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499464466Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P149233864991745ChainID=PRO_0000064278;Note=Junction plakoglobin
P149233864991745ChainID=PRO_0000064278;Note=Junction plakoglobin
P149233864991745ChainID=PRO_0000064278;Note=Junction plakoglobin
P14923386499390397HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499390397HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499390397HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499405418HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499405418HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499405418HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499423429HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499423429HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499423429HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499434445HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499434445HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499434445HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499449462HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499449462HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499449462HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499469477HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499469477HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499469477HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499481487HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499481487HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499481487HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499488490HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499488490HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499488490HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499495508HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499495508HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499495508HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499383420RepeatNote=ARM 7
P14923386499383420RepeatNote=ARM 7
P14923386499383420RepeatNote=ARM 7
P14923386499423464RepeatNote=ARM 8
P14923386499423464RepeatNote=ARM 8
P14923386499423464RepeatNote=ARM 8
P14923386499470510RepeatNote=ARM 9
P14923386499470510RepeatNote=ARM 9
P14923386499470510RepeatNote=ARM 9
P14923386499398401TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499398401TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499398401TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499419421TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499419421TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499419421TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499430433TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499430433TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499430433TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499478480TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499478480TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923386499478480TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P149235515911745ChainID=PRO_0000064278;Note=Junction plakoglobin
P149235515911745ChainID=PRO_0000064278;Note=Junction plakoglobin
P149235515911745ChainID=PRO_0000064278;Note=Junction plakoglobin
P14923551591556570HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923551591556570HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923551591556570HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923551591574582HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923551591574582HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923551591574582HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923551591586592HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923551591586592HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923551591586592HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3IFQ
P14923551591574661RegionNote=Interaction with DSC1
P14923551591574661RegionNote=Interaction with DSC1
P14923551591574661RegionNote=Interaction with DSC1
P14923551591512551RepeatNote=ARM 10
P14923551591512551RepeatNote=ARM 10
P14923551591512551RepeatNote=ARM 10
P14923551591574613RepeatNote=ARM 11
P14923551591574613RepeatNote=ARM 11
P14923551591574613RepeatNote=ARM 11


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SNVs in the skipped exons for JUP

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-G3-A3CJ-01exon_skip_289633
39919235399195733991948239919482Frame_Shift_DelT-p.N417fs
LIHCTCGA-DD-A1EG-01exon_skip_289642
39923631399238323992372539923725Frame_Shift_DelT-p.K272fs
LIHCTCGA-DD-A3A0-01exon_skip_289645
39925670399259293992580139925801Frame_Shift_DelG-p.L113fs
UCECTCGA-DI-A0WH-01exon_skip_289627
39914651399147703991474339914743Nonsense_MutationCAp.E561*
COADTCGA-G4-6588-01exon_skip_289627
39914651399147703991475539914755Nonsense_MutationCAp.E557X
SARCTCGA-QC-A7B5-01exon_skip_289645
39925670399259293992577739925777Nonsense_MutationGAp.Q121*
SKCMTCGA-D3-A5GL-06exon_skip_289645
39925670399259293992585239925852Nonsense_MutationCAp.E96*
UCECTCGA-BG-A0M4-01exon_skip_289642
39923631399238323992383439923835Splice_Site-Gp.S236_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HPAC_PANCREAS39925670399259293992574439925746In_Frame_DelTGA-p.I131del
HEC59_ENDOMETRIUM39911982399121473991207739912077Missense_MutationGTp.D719E
EN_ENDOMETRIUM39914651399147703991470139914701Missense_MutationTCp.M575V
EN_ENDOMETRIUM39914651399147703991476339914763Missense_MutationAGp.V554A
NCIH2085_LUNG39919235399195733991932139919321Missense_MutationTCp.M471V
WM1552C_SKIN39920965399210683992098439920984Missense_MutationGAp.S380L
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE39920965399210683992099339920993Missense_MutationCTp.R377H
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE39920965399210683992099339920993Missense_MutationCTp.R377H
SNU349_KIDNEY39920965399210683992102439921024Missense_MutationGAp.R367C
VMRCRCW_KIDNEY39923631399238323992373139923731Missense_MutationATp.L270Q
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE39923631399238323992374639923746Missense_MutationCTp.R265H
NCIH196_LUNG39925670399259293992569539925695Missense_MutationGCp.T148S
201T_LUNG39925670399259293992578639925786Missense_MutationCTp.E118K
NCIH1573_LUNG39925670399259293992579439925794Missense_MutationCAp.R115L
CORL47_LUNG39925670399259293992586439925864Missense_MutationCAp.G92C
SW1271_LUNG39925670399259293992588739925887Missense_MutationCGp.R84P
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE39914651399147703991465339914653Nonsense_MutationGAp.Q591*
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE39919235399195733991924739919247Nonsense_MutationCTp.W495*
SW962_VULVA39925670399259293992582539925825Nonsense_MutationGAp.Q105*
HEC59_ENDOMETRIUM39923631399238323992363239923632Splice_SiteTCp.K303R

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for JUP

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for JUP


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for JUP


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RelatedDrugs for JUP

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
P14923DB01593ZincJunction plakoglobinsmall moleculeapproved|investigational
P14923DB14487Zinc acetateJunction plakoglobinsmall moleculeapproved|investigational
P14923DB14533Zinc chlorideJunction plakoglobinsmall moleculeapproved|investigational

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RelatedDiseases for JUP

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
JUPC0023895Liver diseases1CTD_human
JUPC0033578Prostatic Neoplasms1CTD_human
JUPC0232347No-Reflow Phenomenon1CTD_human
JUPC1969081Arrhythmogenic Right Ventricular Dysplasia, Familial, 121CTD_human;UNIPROT