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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:JUP-DDX41 (FusionGDB2 ID:40877)

Fusion Gene Summary for JUP-DDX41

check button Fusion gene summary
Fusion gene informationFusion gene name: JUP-DDX41
Fusion gene ID: 40877
HgeneTgene
Gene symbol

JUP

DDX41

Gene ID

3728

51428

Gene namejunction plakoglobinDEAD-box helicase 41
SynonymsCTNNG|DP3|DPIII|PDGB|PKGBABS|MPLPF
Cytomap

17q21.2

5q35.3

Type of geneprotein-codingprotein-coding
Descriptionjunction plakoglobincatenin (cadherin-associated protein), gamma 80kDadesmoplakin IIIdesmoplakin-3probable ATP-dependent RNA helicase DDX41DEAD (Asp-Glu-Ala-Asp) box polypeptide 41DEAD box protein 41DEAD box protein abstrakt homologDEAD-box protein abstraktputative RNA helicase
Modification date2020031320200320
UniProtAcc

P14923

Q9UJV9

Ensembl transtripts involved in fusion geneENST00000540235, ENST00000393930, 
ENST00000393931, ENST00000310706, 
ENST00000507955, ENST00000506965, 
Fusion gene scores* DoF score22 X 25 X 12=66001 X 1 X 1=1
# samples 321
** MAII scorelog2(32/6600*10)=-4.36632221424582
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: JUP [Title/Abstract] AND DDX41 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointJUP(39913672)-DDX41(176938901), # samples:1
Anticipated loss of major functional domain due to fusion event.JUP-DDX41 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
JUP-DDX41 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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


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.

check buttonFusion gene breakpoints across DDX41 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChiTaRS5.0N/ABE075620JUPchr17

39913672

-DDX41chr5

176938901

-


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Fusion Gene ORF analysis for JUP-DDX41

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000540235ENST00000507955JUPchr17

39913672

-DDX41chr5

176938901

-
intron-intronENST00000540235ENST00000506965JUPchr17

39913672

-DDX41chr5

176938901

-
In-frameENST00000393930ENST00000507955JUPchr17

39913672

-DDX41chr5

176938901

-
5CDS-intronENST00000393930ENST00000506965JUPchr17

39913672

-DDX41chr5

176938901

-
Frame-shiftENST00000393931ENST00000507955JUPchr17

39913672

-DDX41chr5

176938901

-
5CDS-intronENST00000393931ENST00000506965JUPchr17

39913672

-DDX41chr5

176938901

-
In-frameENST00000310706ENST00000507955JUPchr17

39913672

-DDX41chr5

176938901

-
5CDS-intronENST00000310706ENST00000506965JUPchr17

39913672

-DDX41chr5

176938901

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000393930JUPchr1739913672-ENST00000507955DDX41chr5176938901-258722632172586790
ENST00000310706JUPchr1739913672-ENST00000507955DDX41chr5176938901-248921651192488790

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
ENST00000393930ENST00000507955JUPchr1739913672-DDX41chr5176938901-0.46433170.53566825
ENST00000310706ENST00000507955JUPchr1739913672-DDX41chr5176938901-0.19123390.8087661

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Fusion Genomic Features for JUP-DDX41


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for JUP-DDX41


check button Go to

FGviewer for the breakpoints of chr17:39913672-chr5:176938901

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

P14923

DDX41

Q9UJV9

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: Probable ATP-dependent RNA helicase. Is required during post-transcriptional gene expression. May be involved in pre-mRNA splicing. {ECO:0000269|PubMed:25920683}.

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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneJUPchr17:39913672chr5:176938901ENST00000310706-1215132_171682.0968.6666666666666RepeatNote=ARM 1
HgeneJUPchr17:39913672chr5:176938901ENST00000310706-1215172_215682.0968.6666666666666RepeatNote=ARM 2
HgeneJUPchr17:39913672chr5:176938901ENST00000310706-1215216_255682.0968.6666666666666RepeatNote=ARM 3
HgeneJUPchr17:39913672chr5:176938901ENST00000310706-1215258_297682.0968.6666666666666RepeatNote=ARM 4
HgeneJUPchr17:39913672chr5:176938901ENST00000310706-1215298_341682.0968.6666666666666RepeatNote=ARM 5
HgeneJUPchr17:39913672chr5:176938901ENST00000310706-1215342_381682.0968.6666666666666RepeatNote=ARM 6
HgeneJUPchr17:39913672chr5:176938901ENST00000310706-1215383_420682.0968.6666666666666RepeatNote=ARM 7
HgeneJUPchr17:39913672chr5:176938901ENST00000310706-1215423_464682.0968.6666666666666RepeatNote=ARM 8
HgeneJUPchr17:39913672chr5:176938901ENST00000310706-1215470_510682.0968.6666666666666RepeatNote=ARM 9
HgeneJUPchr17:39913672chr5:176938901ENST00000310706-1215512_551682.0968.6666666666666RepeatNote=ARM 10
HgeneJUPchr17:39913672chr5:176938901ENST00000310706-1215574_613682.0968.6666666666666RepeatNote=ARM 11
HgeneJUPchr17:39913672chr5:176938901ENST00000310706-1215615_661682.0968.6666666666666RepeatNote=ARM 12
HgeneJUPchr17:39913672chr5:176938901ENST00000393930-1215132_171682.0936.0RepeatNote=ARM 1
HgeneJUPchr17:39913672chr5:176938901ENST00000393930-1215172_215682.0936.0RepeatNote=ARM 2
HgeneJUPchr17:39913672chr5:176938901ENST00000393930-1215216_255682.0936.0RepeatNote=ARM 3
HgeneJUPchr17:39913672chr5:176938901ENST00000393930-1215258_297682.0936.0RepeatNote=ARM 4
HgeneJUPchr17:39913672chr5:176938901ENST00000393930-1215298_341682.0936.0RepeatNote=ARM 5
HgeneJUPchr17:39913672chr5:176938901ENST00000393930-1215342_381682.0936.0RepeatNote=ARM 6
HgeneJUPchr17:39913672chr5:176938901ENST00000393930-1215383_420682.0936.0RepeatNote=ARM 7
HgeneJUPchr17:39913672chr5:176938901ENST00000393930-1215423_464682.0936.0RepeatNote=ARM 8
HgeneJUPchr17:39913672chr5:176938901ENST00000393930-1215470_510682.0936.0RepeatNote=ARM 9
HgeneJUPchr17:39913672chr5:176938901ENST00000393930-1215512_551682.0936.0RepeatNote=ARM 10
HgeneJUPchr17:39913672chr5:176938901ENST00000393930-1215574_613682.0936.0RepeatNote=ARM 11
HgeneJUPchr17:39913672chr5:176938901ENST00000393930-1215615_661682.0936.0RepeatNote=ARM 12
HgeneJUPchr17:39913672chr5:176938901ENST00000393931-1214132_171682.0746.0RepeatNote=ARM 1
HgeneJUPchr17:39913672chr5:176938901ENST00000393931-1214172_215682.0746.0RepeatNote=ARM 2
HgeneJUPchr17:39913672chr5:176938901ENST00000393931-1214216_255682.0746.0RepeatNote=ARM 3
HgeneJUPchr17:39913672chr5:176938901ENST00000393931-1214258_297682.0746.0RepeatNote=ARM 4
HgeneJUPchr17:39913672chr5:176938901ENST00000393931-1214298_341682.0746.0RepeatNote=ARM 5
HgeneJUPchr17:39913672chr5:176938901ENST00000393931-1214342_381682.0746.0RepeatNote=ARM 6
HgeneJUPchr17:39913672chr5:176938901ENST00000393931-1214383_420682.0746.0RepeatNote=ARM 7
HgeneJUPchr17:39913672chr5:176938901ENST00000393931-1214423_464682.0746.0RepeatNote=ARM 8
HgeneJUPchr17:39913672chr5:176938901ENST00000393931-1214470_510682.0746.0RepeatNote=ARM 9
HgeneJUPchr17:39913672chr5:176938901ENST00000393931-1214512_551682.0746.0RepeatNote=ARM 10
HgeneJUPchr17:39913672chr5:176938901ENST00000393931-1214574_613682.0746.0RepeatNote=ARM 11
HgeneJUPchr17:39913672chr5:176938901ENST00000393931-1214615_661682.0746.0RepeatNote=ARM 12
TgeneDDX41chr17:39913672chr5:176938901ENST00000507955017212_3960623.0DomainHelicase ATP-binding
TgeneDDX41chr17:39913672chr5:176938901ENST00000507955017407_5670623.0DomainHelicase C-terminal
TgeneDDX41chr17:39913672chr5:176938901ENST00000507955017181_2090623.0MotifQ motif
TgeneDDX41chr17:39913672chr5:176938901ENST00000507955017344_3470623.0MotifDEAD box
TgeneDDX41chr17:39913672chr5:176938901ENST00000507955017225_2320623.0Nucleotide bindingATP
TgeneDDX41chr17:39913672chr5:176938901ENST00000507955017580_5970623.0Zinc fingerNote=CCHC-type

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for JUP-DDX41


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000393930_ENST00000507955_BE075620_JUP_chr17_39913672_-_DDX41_chr5_176938901_length(transcript)=2587nt_BP=2263nt
CATGCTTTCTGGAGGCCTGCACAGACCTTTCCCACCCGCTTTCCTGAAAGAATTTGACAGGGAAAGTGAGACCGCAGGAAGGCTTTTTGG
GGGAAGGTTTCTTCAATGCTAGACTCTCTCAGGCAGAGCTGCATCGGGCCCCCTGCCTTCCCTGCTCCCAATTTCCTGAGACCGCCCCCC
CCCACCCAGAATTGGGGATCTTGATCAGGTAGCCACGATGGAGGTGATGAACCTGATGGAGCAGCCTATCAAGGTGACTGAGTGGCAGCA
GACATACACCTACGACTCGGGTATCCACTCGGGCGCCAACACCTGCGTGCCCTCCGTCAGCAGCAAGGGCATCATGGAGGAGGATGAGGC
CTGCGGGCGCCAGTACACGCTCAAGAAAACCACCACTTACACCCAGGGGGTGCCCCCCAGCCAAGGTGATCTGGAGTACCAGATGTCCAC
AACAGCCAGGGCCAAACGGGTGCGGGAGGCCATGTGCCCTGGTGTGTCAGGCGAGGACAGCTCGCTTCTGCTGGCCACCCAGGTGGAGGG
GCAGGCCACCAACCTGCAGCGACTGGCCGAGCCGTCCCAGCTGCTCAAGTCGGCCATTGTGCATCTCATCAACTACCAGGACGATGCCGA
GCTGGCCACTCGCGCCCTGCCCGAGCTCACCAAACTGCTCAACGACGAGGACCCGGTGGTGGTGACCAAGGCGGCCATGATTGTGAACCA
GCTGTCGAAGAAGGAGGCGTCGCGGCGGGCCCTGATGGGCTCGCCCCAGCTGGTGGCCGCTGTCGTGCGTACCATGCAGAATACCAGCGA
CCTGGACACAGCCCGCTGCACCACCAGCATCCTGCACAACCTCTCCCACCACCGGGAGGGGCTGCTCGCCATCTTCAAGTCGGGTGGCAT
CCCTGCTCTGGTCCGCATGCTCAGCTCCCCTGTGGAGTCGGTCCTGTTCTATGCCATCACCACGCTGCACAACCTGCTCCTGTACCAGGA
GGGCGCCAAGATGGCCGTGCGCCTGGCCGACGGGCTGCAAAAGATGGTGCCCCTGCTCAACAAGAACAACCCCAAGTTCCTGGCCATCAC
CACCGACTGCCTGCAGCTCCTGGCCTACGGCAACCAGGAGAGCAAGCTGATCATCCTGGCCAATGGTGGGCCCCAGGCCCTCGTGCAGAT
CATGCGTAACTACAGTTATGAAAAGCTGCTCTGGACCACCAGTCGTGTGCTCAAGGTGCTATCCGTGTGTCCCAGCAATAAGCCTGCCAT
TGTGGAGGCTGGTGGGATGCAGGCCCTGGGCAAGCACCTGACCAGCAACAGCCCCCGCCTGGTGCAGAACTGCCTGTGGACCCTGCGCAA
CCTCTCAGATGTGGCCACCAAGCAGGAGGGCCTGGAGAGTGTGCTGAAGATTCTGGTGAATCAGCTGAGTGTGGATGACGTCAACGTCCT
CACCTGTGCCACGGGCACACTCTCCAACCTGACATGCAACAACAGCAAGAACAAGACGCTGGTGACACAGAACAGCGGTGTGGAGGCTCT
CATCCATGCCATCCTGCGTGCTGGTGACAAGGACGACATCACGGAGCCTGCCGTCTGCGCTCTGCGCCACCTCACTAGCCGCCACCCTGA
GGCCGAGATGGCCCAGAACTCTGTGCGTCTCAACTATGGCATCCCAGCCATCGTGAAGCTGCTCAACCAGCCCAACCAGTGGCCACTGGT
CAAGGCAACCATCGGCTTGATCAGGAATCTGGCCCTGTGCCCAGCCAACCATGCCCCGCTGCAGGAGGCAGCGGTCATCCCCCGCCTCGT
CCAACTGCTGGTGAAGGCCCACCAGGATGCCCAGCGCCACGTAGCTGCAGGCACACAGCAGCCCTACACGGATGGTGTGAGGATGGAGGA
GATTGTGGAGGGCTGCACCGGAGCACTGCACATCCTCGCCCGGGACCCCATGAACCGCATGGAGATCTTCCGGCTCAACACCATTCCCCT
GTTTGTGCAGCTCCTGTACTCGTCGGTGGAGAACATCCAGCGCGTGGCTGCCGGGGTGCTGTGTGAGCTGGCCCAGGACAAGGAGGCGGC
CGACGCCATTGATGCAGAGGGGGCCTCGGCCCCACTCATGGAGTTGCTGCACTCCCGCAACGAGGGCACTGCCACCTACGCTGCTGCCGT
CCTGTTCCGCATCTCCGAGGACAAGAACCCAGACTACCGGAAGCGCGTGTCCGTGGAGCTCACCAACTCCCTCTTCAAGCATGACCCGGC
TGCCTGGGAGGCTGCCTGGGTCATCGGATCACTGACTGCCCCAAACTCGAGGCTATGCAGACCAAGCAGGTCAGCAACATCGGTCGCAAG
GACTACCTGGCCCACAGCTCCATGGACTTCTGAGCCGACAGTCTTCCCTTCTCTCCAAGAGGCCTCAGTCCCCAAGACTGCCACCAGTCT
ACACATACAGCAGCCCCCTGGACAGAATCAGCATTTCAGCTCAGCTGGCCTGGGATGGGCCAGGCTGGTCCTGGCTGCCTGTTCCCTGTG

>In-frame_ENST00000393930_ENST00000507955_BE075620_JUP_chr17_39913672_-_DDX41_chr5_176938901_length(amino acids)=790AA_start in transcript=217_stop in transcript=2586
MEVMNLMEQPIKVTEWQQTYTYDSGIHSGANTCVPSVSSKGIMEEDEACGRQYTLKKTTTYTQGVPPSQGDLEYQMSTTARAKRVREAMC
PGVSGEDSSLLLATQVEGQATNLQRLAEPSQLLKSAIVHLINYQDDAELATRALPELTKLLNDEDPVVVTKAAMIVNQLSKKEASRRALM
GSPQLVAAVVRTMQNTSDLDTARCTTSILHNLSHHREGLLAIFKSGGIPALVRMLSSPVESVLFYAITTLHNLLLYQEGAKMAVRLADGL
QKMVPLLNKNNPKFLAITTDCLQLLAYGNQESKLIILANGGPQALVQIMRNYSYEKLLWTTSRVLKVLSVCPSNKPAIVEAGGMQALGKH
LTSNSPRLVQNCLWTLRNLSDVATKQEGLESVLKILVNQLSVDDVNVLTCATGTLSNLTCNNSKNKTLVTQNSGVEALIHAILRAGDKDD
ITEPAVCALRHLTSRHPEAEMAQNSVRLNYGIPAIVKLLNQPNQWPLVKATIGLIRNLALCPANHAPLQEAAVIPRLVQLLVKAHQDAQR
HVAAGTQQPYTDGVRMEEIVEGCTGALHILARDPMNRMEIFRLNTIPLFVQLLYSSVENIQRVAAGVLCELAQDKEAADAIDAEGASAPL
MELLHSRNEGTATYAAAVLFRISEDKNPDYRKRVSVELTNSLFKHDPAAWEAAWVIGSLTAPNSRLCRPSRSATSVARTTWPTAPWTSEP

--------------------------------------------------------------
>In-frame_ENST00000310706_ENST00000507955_BE075620_JUP_chr17_39913672_-_DDX41_chr5_176938901_length(transcript)=2489nt_BP=2165nt
GGCCAGAGTCCGGAGCAGCCGCCGCCCGACCACGCCGAGCTCAGTTCGCTGTCCGCGCCGGCTCCCACCCCGGCCCGACCCCGACCCGGC
CCGGTCAGGCCCCATACTCAGTAGCCACGATGGAGGTGATGAACCTGATGGAGCAGCCTATCAAGGTGACTGAGTGGCAGCAGACATACA
CCTACGACTCGGGTATCCACTCGGGCGCCAACACCTGCGTGCCCTCCGTCAGCAGCAAGGGCATCATGGAGGAGGATGAGGCCTGCGGGC
GCCAGTACACGCTCAAGAAAACCACCACTTACACCCAGGGGGTGCCCCCCAGCCAAGGTGATCTGGAGTACCAGATGTCCACAACAGCCA
GGGCCAAACGGGTGCGGGAGGCCATGTGCCCTGGTGTGTCAGGCGAGGACAGCTCGCTTCTGCTGGCCACCCAGGTGGAGGGGCAGGCCA
CCAACCTGCAGCGACTGGCCGAGCCGTCCCAGCTGCTCAAGTCGGCCATTGTGCATCTCATCAACTACCAGGACGATGCCGAGCTGGCCA
CTCGCGCCCTGCCCGAGCTCACCAAACTGCTCAACGACGAGGACCCGGTGGTGGTGACCAAGGCGGCCATGATTGTGAACCAGCTGTCGA
AGAAGGAGGCGTCGCGGCGGGCCCTGATGGGCTCGCCCCAGCTGGTGGCCGCTGTCGTGCGTACCATGCAGAATACCAGCGACCTGGACA
CAGCCCGCTGCACCACCAGCATCCTGCACAACCTCTCCCACCACCGGGAGGGGCTGCTCGCCATCTTCAAGTCGGGTGGCATCCCTGCTC
TGGTCCGCATGCTCAGCTCCCCTGTGGAGTCGGTCCTGTTCTATGCCATCACCACGCTGCACAACCTGCTCCTGTACCAGGAGGGCGCCA
AGATGGCCGTGCGCCTGGCCGACGGGCTGCAAAAGATGGTGCCCCTGCTCAACAAGAACAACCCCAAGTTCCTGGCCATCACCACCGACT
GCCTGCAGCTCCTGGCCTACGGCAACCAGGAGAGCAAGCTGATCATCCTGGCCAATGGTGGGCCCCAGGCCCTCGTGCAGATCATGCGTA
ACTACAGTTATGAAAAGCTGCTCTGGACCACCAGTCGTGTGCTCAAGGTGCTATCCGTGTGTCCCAGCAATAAGCCTGCCATTGTGGAGG
CTGGTGGGATGCAGGCCCTGGGCAAGCACCTGACCAGCAACAGCCCCCGCCTGGTGCAGAACTGCCTGTGGACCCTGCGCAACCTCTCAG
ATGTGGCCACCAAGCAGGAGGGCCTGGAGAGTGTGCTGAAGATTCTGGTGAATCAGCTGAGTGTGGATGACGTCAACGTCCTCACCTGTG
CCACGGGCACACTCTCCAACCTGACATGCAACAACAGCAAGAACAAGACGCTGGTGACACAGAACAGCGGTGTGGAGGCTCTCATCCATG
CCATCCTGCGTGCTGGTGACAAGGACGACATCACGGAGCCTGCCGTCTGCGCTCTGCGCCACCTCACTAGCCGCCACCCTGAGGCCGAGA
TGGCCCAGAACTCTGTGCGTCTCAACTATGGCATCCCAGCCATCGTGAAGCTGCTCAACCAGCCCAACCAGTGGCCACTGGTCAAGGCAA
CCATCGGCTTGATCAGGAATCTGGCCCTGTGCCCAGCCAACCATGCCCCGCTGCAGGAGGCAGCGGTCATCCCCCGCCTCGTCCAACTGC
TGGTGAAGGCCCACCAGGATGCCCAGCGCCACGTAGCTGCAGGCACACAGCAGCCCTACACGGATGGTGTGAGGATGGAGGAGATTGTGG
AGGGCTGCACCGGAGCACTGCACATCCTCGCCCGGGACCCCATGAACCGCATGGAGATCTTCCGGCTCAACACCATTCCCCTGTTTGTGC
AGCTCCTGTACTCGTCGGTGGAGAACATCCAGCGCGTGGCTGCCGGGGTGCTGTGTGAGCTGGCCCAGGACAAGGAGGCGGCCGACGCCA
TTGATGCAGAGGGGGCCTCGGCCCCACTCATGGAGTTGCTGCACTCCCGCAACGAGGGCACTGCCACCTACGCTGCTGCCGTCCTGTTCC
GCATCTCCGAGGACAAGAACCCAGACTACCGGAAGCGCGTGTCCGTGGAGCTCACCAACTCCCTCTTCAAGCATGACCCGGCTGCCTGGG
AGGCTGCCTGGGTCATCGGATCACTGACTGCCCCAAACTCGAGGCTATGCAGACCAAGCAGGTCAGCAACATCGGTCGCAAGGACTACCT
GGCCCACAGCTCCATGGACTTCTGAGCCGACAGTCTTCCCTTCTCTCCAAGAGGCCTCAGTCCCCAAGACTGCCACCAGTCTACACATAC
AGCAGCCCCCTGGACAGAATCAGCATTTCAGCTCAGCTGGCCTGGGATGGGCCAGGCTGGTCCTGGCTGCCTGTTCCCTGTGCTCTTCAG

>In-frame_ENST00000310706_ENST00000507955_BE075620_JUP_chr17_39913672_-_DDX41_chr5_176938901_length(amino acids)=790AA_start in transcript=119_stop in transcript=2488
MEVMNLMEQPIKVTEWQQTYTYDSGIHSGANTCVPSVSSKGIMEEDEACGRQYTLKKTTTYTQGVPPSQGDLEYQMSTTARAKRVREAMC
PGVSGEDSSLLLATQVEGQATNLQRLAEPSQLLKSAIVHLINYQDDAELATRALPELTKLLNDEDPVVVTKAAMIVNQLSKKEASRRALM
GSPQLVAAVVRTMQNTSDLDTARCTTSILHNLSHHREGLLAIFKSGGIPALVRMLSSPVESVLFYAITTLHNLLLYQEGAKMAVRLADGL
QKMVPLLNKNNPKFLAITTDCLQLLAYGNQESKLIILANGGPQALVQIMRNYSYEKLLWTTSRVLKVLSVCPSNKPAIVEAGGMQALGKH
LTSNSPRLVQNCLWTLRNLSDVATKQEGLESVLKILVNQLSVDDVNVLTCATGTLSNLTCNNSKNKTLVTQNSGVEALIHAILRAGDKDD
ITEPAVCALRHLTSRHPEAEMAQNSVRLNYGIPAIVKLLNQPNQWPLVKATIGLIRNLALCPANHAPLQEAAVIPRLVQLLVKAHQDAQR
HVAAGTQQPYTDGVRMEEIVEGCTGALHILARDPMNRMEIFRLNTIPLFVQLLYSSVENIQRVAAGVLCELAQDKEAADAIDAEGASAPL
MELLHSRNEGTATYAAAVLFRISEDKNPDYRKRVSVELTNSLFKHDPAAWEAAWVIGSLTAPNSRLCRPSRSATSVARTTWPTAPWTSEP

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Fusion Gene PPI Analysis for JUP-DDX41


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
HgeneJUPchr17:39913672chr5:176938901ENST00000310706-1215574_661682.0968.6666666666666DSC1
HgeneJUPchr17:39913672chr5:176938901ENST00000393930-1215574_661682.0936.0DSC1
HgeneJUPchr17:39913672chr5:176938901ENST00000393931-1214574_661682.0746.0DSC1
HgeneJUPchr17:39913672chr5:176938901ENST00000310706-1215132_297682.0968.6666666666666DSC1 and DSG1
HgeneJUPchr17:39913672chr5:176938901ENST00000393930-1215132_297682.0936.0DSC1 and DSG1
HgeneJUPchr17:39913672chr5:176938901ENST00000393931-1214132_297682.0746.0DSC1 and DSG1


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for JUP-DDX41


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneJUPP14923DB01593ZincSmall moleculeApproved|Investigational
HgeneJUPP14923DB01593ZincSmall moleculeApproved|Investigational
HgeneJUPP14923DB01593ZincSmall moleculeApproved|Investigational
HgeneJUPP14923DB14487Zinc acetateSmall moleculeApproved|Investigational
HgeneJUPP14923DB14487Zinc acetateSmall moleculeApproved|Investigational
HgeneJUPP14923DB14487Zinc acetateSmall moleculeApproved|Investigational

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Related Diseases for JUP-DDX41


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneJUPC1832600Naxos disease5CTD_human;GENOMICS_ENGLAND
HgeneJUPC1969081Arrhythmogenic Right Ventricular Dysplasia, Familial, 124CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneJUPC0023895Liver diseases1CTD_human
HgeneJUPC0033578Prostatic Neoplasms1CTD_human
HgeneJUPC0086565Liver Dysfunction1CTD_human
HgeneJUPC0232347No-Reflow Phenomenon1CTD_human
HgeneJUPC0376358Malignant neoplasm of prostate1CTD_human
HgeneJUPC1864826Epidermolysis bullosa, lethal acantholytic1ORPHANET
HgeneJUPC2713615Slow-Flow Phenomenon1CTD_human
TgeneDDX41C4225174MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneDDX41C0023473Myeloid Leukemia, Chronic1GENOMICS_ENGLAND
TgeneDDX41C1853118Severe congenital neutropenia1GENOMICS_ENGLAND
TgeneDDX41C2930974Acute erythroleukemia1CTD_human
TgeneDDX41C2930975Acute erythroleukemia - M6a subtype1CTD_human
TgeneDDX41C2930976Acute myeloid leukemia FAB-M61CTD_human
TgeneDDX41C2930977Acute erythroleukemia - M6b subtype1CTD_human