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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:JUP-PTN

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: JUP-PTN
FusionPDB ID: 41078
FusionGDB2.0 ID: 41078
HgeneTgene
Gene symbol

JUP

PTN

Gene ID

3728

5764

Gene namejunction plakoglobinpleiotrophin
SynonymsCTNNG|DP3|DPIII|PDGB|PKGBHARP|HB-GAM|HBBM|HBGF-8|HBGF8|HBNF|HBNF-1|NEGF1|OSF-1
Cytomap

17q21.2

7q33

Type of geneprotein-codingprotein-coding
Descriptionjunction plakoglobincatenin (cadherin-associated protein), gamma 80kDadesmoplakin IIIdesmoplakin-3pleiotrophinheparin affin regulatory proteinheparin-binding brain mitogenheparin-binding growth factor 8heparin-binding growth-associated moleculeheparin-binding neurite outgrowth promoting factorheparin-binding neurite outgrowth-promoting factor 1
Modification date2020031320200313
UniProtAcc

P14923

.
Ensembl transtripts involved in fusion geneENST idsENST00000393931, ENST00000310706, 
ENST00000393930, ENST00000540235, 
ENST00000348225, ENST00000393083, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score22 X 25 X 12=66008 X 3 X 7=168
# samples 328
** MAII scorelog2(32/6600*10)=-4.36632221424582
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: JUP [Title/Abstract] AND PTN [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)JUP(39910856)-PTN(136938384), # samples:1
Anticipated loss of major functional domain due to fusion event.JUP-PTN seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
JUP-PTN seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
JUP-PTN seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneJUP

GO:0002159

desmosome assembly

22889254

HgeneJUP

GO:0042127

regulation of cell proliferation

17924338

HgeneJUP

GO:0042307

positive regulation of protein import into nucleus

10825188|14661054

HgeneJUP

GO:0050982

detection of mechanical stimulus

18937352

HgeneJUP

GO:0051091

positive regulation of DNA-binding transcription factor activity

14661054

HgeneJUP

GO:0071681

cellular response to indole-3-methanol

10868478

HgeneJUP

GO:0098609

cell-cell adhesion

18937352

TgenePTN

GO:0007229

integrin-mediated signaling pathway

19141530

TgenePTN

GO:0008284

positive regulation of cell proliferation

1733956

TgenePTN

GO:0043113

receptor clustering

27445335

TgenePTN

GO:0043932

ossification involved in bone remodeling

19442624

TgenePTN

GO:0048714

positive regulation of oligodendrocyte differentiation

27445335


check buttonFusion gene breakpoints across JUP (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across PTN (3'-gene)
* 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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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4CESCTCGA-C5-A1MP-01AJUPchr17

39910856

-PTNchr7

136938384

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000393930JUPchr1739910856-ENST00000348225PTNchr7136938384-436932982172454745
ENST00000393930JUPchr1739910856-ENST00000393083PTNchr7136938384-444532982172454745
ENST00000310706JUPchr1739910856-ENST00000348225PTNchr7136938384-427132001192356745
ENST00000310706JUPchr1739910856-ENST00000393083PTNchr7136938384-434732001192356745

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000393930ENST00000348225JUPchr1739910856-PTNchr7136938384-0.0041849020.9958151
ENST00000393930ENST00000393083JUPchr1739910856-PTNchr7136938384-0.004163620.9958364
ENST00000310706ENST00000348225JUPchr1739910856-PTNchr7136938384-0.0040863170.9959137
ENST00000310706ENST00000393083JUPchr1739910856-PTNchr7136938384-0.0040882780.9959117

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>41078_41078_1_JUP-PTN_JUP_chr17_39910856_ENST00000310706_PTN_chr7_136938384_ENST00000348225_length(amino acids)=745AA_BP=
MEVMNLMEQPIKVTEWQQTYTYDSGIHSGANTCVPSVSSKGIMEEDEACGRQYTLKKTTTYTQGVPPSQGDLEYQMSTTARAKRVREAMC
PGVSGEDSSLLLATQVEGQATNLQRLAEPSQLLKSAIVHLINYQDDAELATRALPELTKLLNDEDPVVVTKAAMIVNQLSKKEASRRALM
GSPQLVAAVVRTMQNTSDLDTARCTTSILHNLSHHREGLLAIFKSGGIPALVRMLSSPVESVLFYAITTLHNLLLYQEGAKMAVRLADGL
QKMVPLLNKNNPKFLAITTDCLQLLAYGNQESKLIILANGGPQALVQIMRNYSYEKLLWTTSRVLKVLSVCPSNKPAIVEAGGMQALGKH
LTSNSPRLVQNCLWTLRNLSDVATKQEGLESVLKILVNQLSVDDVNVLTCATGTLSNLTCNNSKNKTLVTQNSGVEALIHAILRAGDKDD
ITEPAVCALRHLTSRHPEAEMAQNSVRLNYGIPAIVKLLNQPNQWPLVKATIGLIRNLALCPANHAPLQEAAVIPRLVQLLVKAHQDAQR
HVAAGTQQPYTDGVRMEEIVEGCTGALHILARDPMNRMEIFRLNTIPLFVQLLYSSVENIQRVAAGVLCELAQDKEAADAIDAEGASAPL
MELLHSRNEGTATYAAAVLFRISEDKNPDYRKRVSVELTNSLFKHDPAAWEAAQSMIPINEPYGDDMDATYRPMYSSDVPLDPLEMHMDM

--------------------------------------------------------------

>41078_41078_2_JUP-PTN_JUP_chr17_39910856_ENST00000310706_PTN_chr7_136938384_ENST00000393083_length(amino acids)=745AA_BP=
MEVMNLMEQPIKVTEWQQTYTYDSGIHSGANTCVPSVSSKGIMEEDEACGRQYTLKKTTTYTQGVPPSQGDLEYQMSTTARAKRVREAMC
PGVSGEDSSLLLATQVEGQATNLQRLAEPSQLLKSAIVHLINYQDDAELATRALPELTKLLNDEDPVVVTKAAMIVNQLSKKEASRRALM
GSPQLVAAVVRTMQNTSDLDTARCTTSILHNLSHHREGLLAIFKSGGIPALVRMLSSPVESVLFYAITTLHNLLLYQEGAKMAVRLADGL
QKMVPLLNKNNPKFLAITTDCLQLLAYGNQESKLIILANGGPQALVQIMRNYSYEKLLWTTSRVLKVLSVCPSNKPAIVEAGGMQALGKH
LTSNSPRLVQNCLWTLRNLSDVATKQEGLESVLKILVNQLSVDDVNVLTCATGTLSNLTCNNSKNKTLVTQNSGVEALIHAILRAGDKDD
ITEPAVCALRHLTSRHPEAEMAQNSVRLNYGIPAIVKLLNQPNQWPLVKATIGLIRNLALCPANHAPLQEAAVIPRLVQLLVKAHQDAQR
HVAAGTQQPYTDGVRMEEIVEGCTGALHILARDPMNRMEIFRLNTIPLFVQLLYSSVENIQRVAAGVLCELAQDKEAADAIDAEGASAPL
MELLHSRNEGTATYAAAVLFRISEDKNPDYRKRVSVELTNSLFKHDPAAWEAAQSMIPINEPYGDDMDATYRPMYSSDVPLDPLEMHMDM

--------------------------------------------------------------

>41078_41078_3_JUP-PTN_JUP_chr17_39910856_ENST00000393930_PTN_chr7_136938384_ENST00000348225_length(amino acids)=745AA_BP=
MEVMNLMEQPIKVTEWQQTYTYDSGIHSGANTCVPSVSSKGIMEEDEACGRQYTLKKTTTYTQGVPPSQGDLEYQMSTTARAKRVREAMC
PGVSGEDSSLLLATQVEGQATNLQRLAEPSQLLKSAIVHLINYQDDAELATRALPELTKLLNDEDPVVVTKAAMIVNQLSKKEASRRALM
GSPQLVAAVVRTMQNTSDLDTARCTTSILHNLSHHREGLLAIFKSGGIPALVRMLSSPVESVLFYAITTLHNLLLYQEGAKMAVRLADGL
QKMVPLLNKNNPKFLAITTDCLQLLAYGNQESKLIILANGGPQALVQIMRNYSYEKLLWTTSRVLKVLSVCPSNKPAIVEAGGMQALGKH
LTSNSPRLVQNCLWTLRNLSDVATKQEGLESVLKILVNQLSVDDVNVLTCATGTLSNLTCNNSKNKTLVTQNSGVEALIHAILRAGDKDD
ITEPAVCALRHLTSRHPEAEMAQNSVRLNYGIPAIVKLLNQPNQWPLVKATIGLIRNLALCPANHAPLQEAAVIPRLVQLLVKAHQDAQR
HVAAGTQQPYTDGVRMEEIVEGCTGALHILARDPMNRMEIFRLNTIPLFVQLLYSSVENIQRVAAGVLCELAQDKEAADAIDAEGASAPL
MELLHSRNEGTATYAAAVLFRISEDKNPDYRKRVSVELTNSLFKHDPAAWEAAQSMIPINEPYGDDMDATYRPMYSSDVPLDPLEMHMDM

--------------------------------------------------------------

>41078_41078_4_JUP-PTN_JUP_chr17_39910856_ENST00000393930_PTN_chr7_136938384_ENST00000393083_length(amino acids)=745AA_BP=
MEVMNLMEQPIKVTEWQQTYTYDSGIHSGANTCVPSVSSKGIMEEDEACGRQYTLKKTTTYTQGVPPSQGDLEYQMSTTARAKRVREAMC
PGVSGEDSSLLLATQVEGQATNLQRLAEPSQLLKSAIVHLINYQDDAELATRALPELTKLLNDEDPVVVTKAAMIVNQLSKKEASRRALM
GSPQLVAAVVRTMQNTSDLDTARCTTSILHNLSHHREGLLAIFKSGGIPALVRMLSSPVESVLFYAITTLHNLLLYQEGAKMAVRLADGL
QKMVPLLNKNNPKFLAITTDCLQLLAYGNQESKLIILANGGPQALVQIMRNYSYEKLLWTTSRVLKVLSVCPSNKPAIVEAGGMQALGKH
LTSNSPRLVQNCLWTLRNLSDVATKQEGLESVLKILVNQLSVDDVNVLTCATGTLSNLTCNNSKNKTLVTQNSGVEALIHAILRAGDKDD
ITEPAVCALRHLTSRHPEAEMAQNSVRLNYGIPAIVKLLNQPNQWPLVKATIGLIRNLALCPANHAPLQEAAVIPRLVQLLVKAHQDAQR
HVAAGTQQPYTDGVRMEEIVEGCTGALHILARDPMNRMEIFRLNTIPLFVQLLYSSVENIQRVAAGVLCELAQDKEAADAIDAEGASAPL
MELLHSRNEGTATYAAAVLFRISEDKNPDYRKRVSVELTNSLFKHDPAAWEAAQSMIPINEPYGDDMDATYRPMYSSDVPLDPLEMHMDM

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:39910856/chr7:136938384)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
JUP

P14923

.
FUNCTION: Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By similarity). {ECO:0000250}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneJUPchr17:39910856chr7:136938384ENST00000310706-1515132_1711027.0968.6666666666666RepeatNote=ARM 1
HgeneJUPchr17:39910856chr7:136938384ENST00000310706-1515172_2151027.0968.6666666666666RepeatNote=ARM 2
HgeneJUPchr17:39910856chr7:136938384ENST00000310706-1515216_2551027.0968.6666666666666RepeatNote=ARM 3
HgeneJUPchr17:39910856chr7:136938384ENST00000310706-1515258_2971027.0968.6666666666666RepeatNote=ARM 4
HgeneJUPchr17:39910856chr7:136938384ENST00000310706-1515298_3411027.0968.6666666666666RepeatNote=ARM 5
HgeneJUPchr17:39910856chr7:136938384ENST00000310706-1515342_3811027.0968.6666666666666RepeatNote=ARM 6
HgeneJUPchr17:39910856chr7:136938384ENST00000310706-1515383_4201027.0968.6666666666666RepeatNote=ARM 7
HgeneJUPchr17:39910856chr7:136938384ENST00000310706-1515423_4641027.0968.6666666666666RepeatNote=ARM 8
HgeneJUPchr17:39910856chr7:136938384ENST00000310706-1515470_5101027.0968.6666666666666RepeatNote=ARM 9
HgeneJUPchr17:39910856chr7:136938384ENST00000310706-1515512_5511027.0968.6666666666666RepeatNote=ARM 10
HgeneJUPchr17:39910856chr7:136938384ENST00000310706-1515574_6131027.0968.6666666666666RepeatNote=ARM 11
HgeneJUPchr17:39910856chr7:136938384ENST00000310706-1515615_6611027.0968.6666666666666RepeatNote=ARM 12
HgeneJUPchr17:39910856chr7:136938384ENST00000393930-1515132_1711027.0936.0RepeatNote=ARM 1
HgeneJUPchr17:39910856chr7:136938384ENST00000393930-1515172_2151027.0936.0RepeatNote=ARM 2
HgeneJUPchr17:39910856chr7:136938384ENST00000393930-1515216_2551027.0936.0RepeatNote=ARM 3
HgeneJUPchr17:39910856chr7:136938384ENST00000393930-1515258_2971027.0936.0RepeatNote=ARM 4
HgeneJUPchr17:39910856chr7:136938384ENST00000393930-1515298_3411027.0936.0RepeatNote=ARM 5
HgeneJUPchr17:39910856chr7:136938384ENST00000393930-1515342_3811027.0936.0RepeatNote=ARM 6
HgeneJUPchr17:39910856chr7:136938384ENST00000393930-1515383_4201027.0936.0RepeatNote=ARM 7
HgeneJUPchr17:39910856chr7:136938384ENST00000393930-1515423_4641027.0936.0RepeatNote=ARM 8
HgeneJUPchr17:39910856chr7:136938384ENST00000393930-1515470_5101027.0936.0RepeatNote=ARM 9
HgeneJUPchr17:39910856chr7:136938384ENST00000393930-1515512_5511027.0936.0RepeatNote=ARM 10
HgeneJUPchr17:39910856chr7:136938384ENST00000393930-1515574_6131027.0936.0RepeatNote=ARM 11
HgeneJUPchr17:39910856chr7:136938384ENST00000393930-1515615_6611027.0936.0RepeatNote=ARM 12
HgeneJUPchr17:39910856chr7:136938384ENST00000393931-1414132_1711126.0746.0RepeatNote=ARM 1
HgeneJUPchr17:39910856chr7:136938384ENST00000393931-1414172_2151126.0746.0RepeatNote=ARM 2
HgeneJUPchr17:39910856chr7:136938384ENST00000393931-1414216_2551126.0746.0RepeatNote=ARM 3
HgeneJUPchr17:39910856chr7:136938384ENST00000393931-1414258_2971126.0746.0RepeatNote=ARM 4
HgeneJUPchr17:39910856chr7:136938384ENST00000393931-1414298_3411126.0746.0RepeatNote=ARM 5
HgeneJUPchr17:39910856chr7:136938384ENST00000393931-1414342_3811126.0746.0RepeatNote=ARM 6
HgeneJUPchr17:39910856chr7:136938384ENST00000393931-1414383_4201126.0746.0RepeatNote=ARM 7
HgeneJUPchr17:39910856chr7:136938384ENST00000393931-1414423_4641126.0746.0RepeatNote=ARM 8
HgeneJUPchr17:39910856chr7:136938384ENST00000393931-1414470_5101126.0746.0RepeatNote=ARM 9
HgeneJUPchr17:39910856chr7:136938384ENST00000393931-1414512_5511126.0746.0RepeatNote=ARM 10
HgeneJUPchr17:39910856chr7:136938384ENST00000393931-1414574_6131126.0746.0RepeatNote=ARM 11
HgeneJUPchr17:39910856chr7:136938384ENST00000393931-1414615_6611126.0746.0RepeatNote=ARM 12
TgenePTNchr17:39910856chr7:136938384ENST0000034822515123_13138.333333333333336169.0RegionChondroitin sulfate binding
TgenePTNchr17:39910856chr7:136938384ENST0000034822515147_16838.333333333333336169.0RegionChondroitin sulfate A binding
TgenePTNchr17:39910856chr7:136938384ENST000003482251592_9938.333333333333336169.0RegionChondroitin sulfate binding

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
JUP
PTN


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to JUP-PTN


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to JUP-PTN


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource