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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:DIAPH3-DOK5 (FusionGDB2 ID:HG81624TG55816)

Fusion Gene Summary for DIAPH3-DOK5

check button Fusion gene summary
Fusion gene informationFusion gene name: DIAPH3-DOK5
Fusion gene ID: hg81624tg55816
HgeneTgene
Gene symbol

DIAPH3

DOK5

Gene ID

81624

55816

Gene namediaphanous related formin 3docking protein 5
SynonymsAN|AUNA1|DIA2|DRF3|NSDAN|diap3|mDia2C20orf180|IRS-6|IRS6
Cytomap('DIAPH3')('DOK5')

13q21.2

20q13.2

Type of geneprotein-codingprotein-coding
Descriptionprotein diaphanous homolog 3diaphanous homolog 3docking protein 5downstream of tyrosine kinase 5insulin receptor substrate 6
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000267215, ENST00000377908, 
ENST00000400319, ENST00000400320, 
ENST00000400324, ENST00000400330, 
ENST00000465066, 
Fusion gene scores* DoF score16 X 12 X 4=76811 X 9 X 8=792
# samples 1812
** MAII scorelog2(18/768*10)=-2.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/792*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DIAPH3 [Title/Abstract] AND DOK5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDIAPH3(60582677)-DOK5(53266953), # samples:2
Anticipated loss of major functional domain due to fusion event.DIAPH3-DOK5 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.
DIAPH3-DOK5 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.
DIAPH3-DOK5 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.
DIAPH3-DOK5 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.
DIAPH3-DOK5 seems lost the major protein functional domain in Hgene 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

check buttonFusion gene breakpoints across DIAPH3 (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 DOK5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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
ChimerDB4PRADTCGA-KK-A59VDIAPH3chr13

60582677

-DOK5chr20

53266953

+


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Fusion Gene ORF analysis for DIAPH3-DOK5

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
5CDS-intronENST00000267215ENST00000491469DIAPH3chr13

60582677

-DOK5chr20

53266953

+
5CDS-intronENST00000377908ENST00000491469DIAPH3chr13

60582677

-DOK5chr20

53266953

+
5CDS-intronENST00000400319ENST00000491469DIAPH3chr13

60582677

-DOK5chr20

53266953

+
5CDS-intronENST00000400320ENST00000491469DIAPH3chr13

60582677

-DOK5chr20

53266953

+
5CDS-intronENST00000400324ENST00000491469DIAPH3chr13

60582677

-DOK5chr20

53266953

+
5CDS-intronENST00000400330ENST00000491469DIAPH3chr13

60582677

-DOK5chr20

53266953

+
5UTR-3CDSENST00000465066ENST00000262593DIAPH3chr13

60582677

-DOK5chr20

53266953

+
5UTR-3CDSENST00000465066ENST00000395939DIAPH3chr13

60582677

-DOK5chr20

53266953

+
5UTR-intronENST00000465066ENST00000491469DIAPH3chr13

60582677

-DOK5chr20

53266953

+
Frame-shiftENST00000267215ENST00000262593DIAPH3chr13

60582677

-DOK5chr20

53266953

+
Frame-shiftENST00000377908ENST00000262593DIAPH3chr13

60582677

-DOK5chr20

53266953

+
Frame-shiftENST00000400319ENST00000262593DIAPH3chr13

60582677

-DOK5chr20

53266953

+
Frame-shiftENST00000400320ENST00000262593DIAPH3chr13

60582677

-DOK5chr20

53266953

+
Frame-shiftENST00000400324ENST00000262593DIAPH3chr13

60582677

-DOK5chr20

53266953

+
Frame-shiftENST00000400330ENST00000262593DIAPH3chr13

60582677

-DOK5chr20

53266953

+
In-frameENST00000267215ENST00000395939DIAPH3chr13

60582677

-DOK5chr20

53266953

+
In-frameENST00000377908ENST00000395939DIAPH3chr13

60582677

-DOK5chr20

53266953

+
In-frameENST00000400319ENST00000395939DIAPH3chr13

60582677

-DOK5chr20

53266953

+
In-frameENST00000400320ENST00000395939DIAPH3chr13

60582677

-DOK5chr20

53266953

+
In-frameENST00000400324ENST00000395939DIAPH3chr13

60582677

-DOK5chr20

53266953

+
In-frameENST00000400330ENST00000395939DIAPH3chr13

60582677

-DOK5chr20

53266953

+

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)
ENST00000400324DIAPH3chr1360582677-ENST00000395939DOK5chr2053266953+171112351101252380
ENST00000400330DIAPH3chr1360582677-ENST00000395939DOK5chr2053266953+170912331081250380
ENST00000400319DIAPH3chr1360582677-ENST00000395939DOK5chr2053266953+12808040821273
ENST00000400320DIAPH3chr1360582677-ENST00000395939DOK5chr2053266953+13528760893297
ENST00000377908DIAPH3chr1360582677-ENST00000395939DOK5chr2053266953+14579810998332
ENST00000267215DIAPH3chr1360582677-ENST00000395939DOK5chr2053266953+1490101401031343

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
ENST00000400324ENST00000395939DIAPH3chr1360582677-DOK5chr2053266953+0.0005001450.9994998
ENST00000400330ENST00000395939DIAPH3chr1360582677-DOK5chr2053266953+0.0005082330.9994917
ENST00000400319ENST00000395939DIAPH3chr1360582677-DOK5chr2053266953+0.0004900450.99950993
ENST00000400320ENST00000395939DIAPH3chr1360582677-DOK5chr2053266953+0.0024388450.9975611
ENST00000377908ENST00000395939DIAPH3chr1360582677-DOK5chr2053266953+0.0005698910.9994301
ENST00000267215ENST00000395939DIAPH3chr1360582677-DOK5chr2053266953+0.0004283730.9995716

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Fusion Genomic Features for DIAPH3-DOK5


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)
DIAPH3chr1360582677-DOK5chr2053266953+4.48E-070.9999995
DIAPH3chr1360582677-DOK5chr2053266953+4.48E-070.9999995

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.
genomic feature

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.
genomic feature of top 1%

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Fusion Protein Features for DIAPH3-DOK5


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/chr13:60582677/chr20:53266953)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000267215-92736_603381113.0MotifNuclear localization signal
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000377908-82736_603271183.0MotifNuclear localization signal
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400319-72636_602681124.0MotifNuclear localization signal
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400320-72636_602921148.0MotifNuclear localization signal
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400324-92836_603381194.0MotifNuclear localization signal
TgeneDOK5chr13:60582677chr20:53266953ENST0000039593968263_273177199.0MotifNote=DKFBH motif

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000267215-9271013_10563381113.0Coiled coilOntology_term=ECO:0000255
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000267215-927497_5543381113.0Coiled coilOntology_term=ECO:0000255
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000377908-8271013_10563271183.0Coiled coilOntology_term=ECO:0000255
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000377908-827497_5543271183.0Coiled coilOntology_term=ECO:0000255
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400319-7261013_10562681124.0Coiled coilOntology_term=ECO:0000255
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400319-726497_5542681124.0Coiled coilOntology_term=ECO:0000255
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400320-7261013_10562921148.0Coiled coilOntology_term=ECO:0000255
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400320-726497_5542921148.0Coiled coilOntology_term=ECO:0000255
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400324-9281013_10563381194.0Coiled coilOntology_term=ECO:0000255
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400324-928497_5543381194.0Coiled coilOntology_term=ECO:0000255
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000267215-927561_6363381113.0Compositional biasNote=Pro-rich
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000377908-827561_6363271183.0Compositional biasNote=Pro-rich
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400319-726561_6362681124.0Compositional biasNote=Pro-rich
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400320-726561_6362921148.0Compositional biasNote=Pro-rich
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400324-928561_6363381194.0Compositional biasNote=Pro-rich
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000267215-9271057_10873381113.0DomainDAD
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000267215-927114_4763381113.0DomainGBD/FH3
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000267215-927561_6313381113.0DomainNote=FH1
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000267215-927636_10343381113.0DomainFH2
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000377908-8271057_10873271183.0DomainDAD
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000377908-827114_4763271183.0DomainGBD/FH3
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000377908-827561_6313271183.0DomainNote=FH1
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000377908-827636_10343271183.0DomainFH2
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400319-7261057_10872681124.0DomainDAD
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400319-726114_4762681124.0DomainGBD/FH3
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400319-726561_6312681124.0DomainNote=FH1
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400319-726636_10342681124.0DomainFH2
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400320-7261057_10872921148.0DomainDAD
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400320-726114_4762921148.0DomainGBD/FH3
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400320-726561_6312921148.0DomainNote=FH1
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400320-726636_10342921148.0DomainFH2
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400324-9281057_10873381194.0DomainDAD
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400324-928114_4763381194.0DomainGBD/FH3
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400324-928561_6313381194.0DomainNote=FH1
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400324-928636_10343381194.0DomainFH2
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000267215-9271184_11933381113.0MotifNuclear export signal
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000377908-8271184_11933271183.0MotifNuclear export signal
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400319-7261184_11932681124.0MotifNuclear export signal
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400320-7261184_11932921148.0MotifNuclear export signal
HgeneDIAPH3chr13:60582677chr20:53266953ENST00000400324-9281184_11933381194.0MotifNuclear export signal
TgeneDOK5chr13:60582677chr20:53266953ENST0000026259368132_237285307.0DomainIRS-type PTB
TgeneDOK5chr13:60582677chr20:53266953ENST00000262593688_112285307.0DomainNote=PH
TgeneDOK5chr13:60582677chr20:53266953ENST0000039593968132_237177199.0DomainIRS-type PTB
TgeneDOK5chr13:60582677chr20:53266953ENST00000395939688_112177199.0DomainNote=PH
TgeneDOK5chr13:60582677chr20:53266953ENST0000026259368263_273285307.0MotifNote=DKFBH motif


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Fusion Gene Sequence for DIAPH3-DOK5


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.
>22769_22769_1_DIAPH3-DOK5_DIAPH3_chr13_60582677_ENST00000267215_DOK5_chr20_53266953_ENST00000395939_length(transcript)=1490nt_BP=1014nt
ATGGAACGGCACCAGCCGCGGCTGCACCACCCGGCCCAAGGCTCAGCCGCTGGGACTCCCTACCCTTCCTCAGCCTCTCTCCGCGGCTGC
CGGGAAAGCAAGATGCCGCGCAGGAAGGGCCCCCAACACCCTCCGCCGCCCAGTGGCCCCGAGGAGCCTGGGGAGAAGCGCCCCAAGTTT
CATTTAAATATTAGGACACTGACGGATGATATGCTGGACAAATTTGCCAGCATAAGAATTCCAGGGAGCAAGAAAGAGAGACCTCCACTT
CCCAACCTGAAGACTGCATTTGCAAGCAGTGATTGCTCAGCAGCACCTTTAGAGATGATGGAGAACTTTCCAAAGCCACTGTCAGAGAAT
GAACTCTTAGAACTTTTTGAAAAAATGATGGAAGATATGAATTTAAATGAAGATAAAAAGGCACCATTGCGGGAAAAGGACTTCAGTATC
AAAAAAGAAATGGTGATGCAGTACATTAATACTGCTTCTAAGACAGGAAGTCTTAAGAGAAGCCGACAGATCTCACCTCAGGAATTCATT
CATGAGCTGAAAATGGGGTCTGCAGATGAGAGACTTGTCACATGCCTGGAGTCTCTCCGAGTGTCTTTGACCAGCAATCCTGTGAGTTGG
GTGGAAAGCTTTGGACATGAAGGGCTTGGATTATTATTAGACATTTTGGAAAAACTGATTAGTGGAAAAATCCAAGAAAAAGTTGTAAAG
AAAAATCAACATAAAGTCATACAGTGTCTAAAAGCCCTGATGAATACGCAGTATGGCTTGGAAAGAATTATGAGTGAGGAGAGGAGCCTT
TCCTTATTGGCCAAAGCCGTGGATCCCAGACACCCCAATATGATGACAGATGTGGTTAAACTTCTCTCTGCGGTATGCATTGTAGGGGAA
GAAAGCATCCTTGAAGAAGTTTTAGAAGCTTTAACTTCAGCTGGTGAAGAAAAAAAAATTGACAGATTTTTTTGTATTGTGGAAGGCCTC
CGGCACAATTCAGTTCAACTGCAAATGTTTCCAGCCCTCTGAAGCTTCATCGAACAGAGACTTTTCCAGCCTACAGATCTGAGCACTGAC
AGTAACTGCCAAGAATTGTTAACACACTTGTGATGTGTCAGCCACAGATTCACCCAGGAGGTCACAGAATGACAGCAAGGGAAATGACGA
CCAAGAGAAGAAGCTTAAAGTCCTGGCTAATTGTGTGGTCATTGGAAAACTCTGCAATACAATAATTTTCTTTATTTTCTTTTTCTTTTT
TAAATTCTTAGTGTAATTGAAACGTGCTCTATAGATATTGACTCTGTGTTCCCTCTTTTACAGCTGGACAGAAAGAAGTCAATGTCACGA
AATGATTTTCTATTGTAGATACTTTGTCCCTTGCACTTCTCTGAATCTGTCCTTTTGTGGATTCTTGTGATTTTCCTTCCAAGTGTTTCA

>22769_22769_1_DIAPH3-DOK5_DIAPH3_chr13_60582677_ENST00000267215_DOK5_chr20_53266953_ENST00000395939_length(amino acids)=343AA_BP=
MERHQPRLHHPAQGSAAGTPYPSSASLRGCRESKMPRRKGPQHPPPPSGPEEPGEKRPKFHLNIRTLTDDMLDKFASIRIPGSKKERPPL
PNLKTAFASSDCSAAPLEMMENFPKPLSENELLELFEKMMEDMNLNEDKKAPLREKDFSIKKEMVMQYINTASKTGSLKRSRQISPQEFI
HELKMGSADERLVTCLESLRVSLTSNPVSWVESFGHEGLGLLLDILEKLISGKIQEKVVKKNQHKVIQCLKALMNTQYGLERIMSEERSL

--------------------------------------------------------------
>22769_22769_2_DIAPH3-DOK5_DIAPH3_chr13_60582677_ENST00000377908_DOK5_chr20_53266953_ENST00000395939_length(transcript)=1457nt_BP=981nt
ATGGAACGGCACCAGCCGCGGCTGCACCACCCGGCCCAAGGCTCAGCCGCTGGGACTCCCTACCCTTCCTCAGCCTCTCTCCGCGGCTGC
CGGGAAAGCAAGATGCCGCGCAGGAAGGGCCCCCAACACCCTCCGCCGCCCAGTGGCCCCGAGGAGCCTGGGGAGAAGCGCCCCAAGTTT
CTGGACAAATTTGCCAGCATAAGAATTCCAGGGAGCAAGAAAGAGAGACCTCCACTTCCCAACCTGAAGACTGCATTTGCAAGCAGTGAT
TGCTCAGCAGCACCTTTAGAGATGATGGAGAACTTTCCAAAGCCACTGTCAGAGAATGAACTCTTAGAACTTTTTGAAAAAATGATGGAA
GATATGAATTTAAATGAAGATAAAAAGGCACCATTGCGGGAAAAGGACTTCAGTATCAAAAAAGAAATGGTGATGCAGTACATTAATACT
GCTTCTAAGACAGGAAGTCTTAAGAGAAGCCGACAGATCTCACCTCAGGAATTCATTCATGAGCTGAAAATGGGGTCTGCAGATGAGAGA
CTTGTCACATGCCTGGAGTCTCTCCGAGTGTCTTTGACCAGCAATCCTGTGAGTTGGGTGGAAAGCTTTGGACATGAAGGGCTTGGATTA
TTATTAGACATTTTGGAAAAACTGATTAGTGGAAAAATCCAAGAAAAAGTTGTAAAGAAAAATCAACATAAAGTCATACAGTGTCTAAAA
GCCCTGATGAATACGCAGTATGGCTTGGAAAGAATTATGAGTGAGGAGAGGAGCCTTTCCTTATTGGCCAAAGCCGTGGATCCCAGACAC
CCCAATATGATGACAGATGTGGTTAAACTTCTCTCTGCGGTATGCATTGTAGGGGAAGAAAGCATCCTTGAAGAAGTTTTAGAAGCTTTA
ACTTCAGCTGGTGAAGAAAAAAAAATTGACAGATTTTTTTGTATTGTGGAAGGCCTCCGGCACAATTCAGTTCAACTGCAAATGTTTCCA
GCCCTCTGAAGCTTCATCGAACAGAGACTTTTCCAGCCTACAGATCTGAGCACTGACAGTAACTGCCAAGAATTGTTAACACACTTGTGA
TGTGTCAGCCACAGATTCACCCAGGAGGTCACAGAATGACAGCAAGGGAAATGACGACCAAGAGAAGAAGCTTAAAGTCCTGGCTAATTG
TGTGGTCATTGGAAAACTCTGCAATACAATAATTTTCTTTATTTTCTTTTTCTTTTTTAAATTCTTAGTGTAATTGAAACGTGCTCTATA
GATATTGACTCTGTGTTCCCTCTTTTACAGCTGGACAGAAAGAAGTCAATGTCACGAAATGATTTTCTATTGTAGATACTTTGTCCCTTG
CACTTCTCTGAATCTGTCCTTTTGTGGATTCTTGTGATTTTCCTTCCAAGTGTTTCAGTTGTATGACAGTCAGTATTGACAATAAAATGG

>22769_22769_2_DIAPH3-DOK5_DIAPH3_chr13_60582677_ENST00000377908_DOK5_chr20_53266953_ENST00000395939_length(amino acids)=332AA_BP=
MERHQPRLHHPAQGSAAGTPYPSSASLRGCRESKMPRRKGPQHPPPPSGPEEPGEKRPKFLDKFASIRIPGSKKERPPLPNLKTAFASSD
CSAAPLEMMENFPKPLSENELLELFEKMMEDMNLNEDKKAPLREKDFSIKKEMVMQYINTASKTGSLKRSRQISPQEFIHELKMGSADER
LVTCLESLRVSLTSNPVSWVESFGHEGLGLLLDILEKLISGKIQEKVVKKNQHKVIQCLKALMNTQYGLERIMSEERSLSLLAKAVDPRH

--------------------------------------------------------------
>22769_22769_3_DIAPH3-DOK5_DIAPH3_chr13_60582677_ENST00000400319_DOK5_chr20_53266953_ENST00000395939_length(transcript)=1280nt_BP=804nt
ATGGAACGGCACCAGCCGCGGCTGCACCACCCGGCCCAAGGCTCAGCCGCTGGGACTCCCTACCCTTCCTCAGCCTCTCTCCGCGGCTGC
CGGGAAAGCAAGATGCCGCGCAGGAAGGGCCCCCAACACCCTCCGCCGCCCAGTGGCCCCGAGGAGCCTGGGGAGAAGCGCCCCAAGTTT
GAAGATATGAATTTAAATGAAGATAAAAAGGCACCATTGCGGGAAAAGGACTTCAGTATCAAAAAAGAAATGGTGATGCAGTACATTAAT
ACTGCTTCTAAGACAGGAAGTCTTAAGAGAAGCCGACAGATCTCACCTCAGGAATTCATTCATGAGCTGAAAATGGGGTCTGCAGATGAG
AGACTTGTCACATGCCTGGAGTCTCTCCGAGTGTCTTTGACCAGCAATCCTGTGAGTTGGGTGGAAAGCTTTGGACATGAAGGGCTTGGA
TTATTATTAGACATTTTGGAAAAACTGATTAGTGGAAAAATCCAAGAAAAAGTTGTAAAGAAAAATCAACATAAAGTCATACAGTGTCTA
AAAGCCCTGATGAATACGCAGTATGGCTTGGAAAGAATTATGAGTGAGGAGAGGAGCCTTTCCTTATTGGCCAAAGCCGTGGATCCCAGA
CACCCCAATATGATGACAGATGTGGTTAAACTTCTCTCTGCGGTATGCATTGTAGGGGAAGAAAGCATCCTTGAAGAAGTTTTAGAAGCT
TTAACTTCAGCTGGTGAAGAAAAAAAAATTGACAGATTTTTTTGTATTGTGGAAGGCCTCCGGCACAATTCAGTTCAACTGCAAATGTTT
CCAGCCCTCTGAAGCTTCATCGAACAGAGACTTTTCCAGCCTACAGATCTGAGCACTGACAGTAACTGCCAAGAATTGTTAACACACTTG
TGATGTGTCAGCCACAGATTCACCCAGGAGGTCACAGAATGACAGCAAGGGAAATGACGACCAAGAGAAGAAGCTTAAAGTCCTGGCTAA
TTGTGTGGTCATTGGAAAACTCTGCAATACAATAATTTTCTTTATTTTCTTTTTCTTTTTTAAATTCTTAGTGTAATTGAAACGTGCTCT
ATAGATATTGACTCTGTGTTCCCTCTTTTACAGCTGGACAGAAAGAAGTCAATGTCACGAAATGATTTTCTATTGTAGATACTTTGTCCC
TTGCACTTCTCTGAATCTGTCCTTTTGTGGATTCTTGTGATTTTCCTTCCAAGTGTTTCAGTTGTATGACAGTCAGTATTGACAATAAAA

>22769_22769_3_DIAPH3-DOK5_DIAPH3_chr13_60582677_ENST00000400319_DOK5_chr20_53266953_ENST00000395939_length(amino acids)=273AA_BP=
MERHQPRLHHPAQGSAAGTPYPSSASLRGCRESKMPRRKGPQHPPPPSGPEEPGEKRPKFEDMNLNEDKKAPLREKDFSIKKEMVMQYIN
TASKTGSLKRSRQISPQEFIHELKMGSADERLVTCLESLRVSLTSNPVSWVESFGHEGLGLLLDILEKLISGKIQEKVVKKNQHKVIQCL
KALMNTQYGLERIMSEERSLSLLAKAVDPRHPNMMTDVVKLLSAVCIVGEESILEEVLEALTSAGEEKKIDRFFCIVEGLRHNSVQLQMF

--------------------------------------------------------------
>22769_22769_4_DIAPH3-DOK5_DIAPH3_chr13_60582677_ENST00000400320_DOK5_chr20_53266953_ENST00000395939_length(transcript)=1352nt_BP=876nt
ATGGAACGGCACCAGCCGCGGCTGCACCACCCGGCCCAAGGCTCAGCCGCTGGGACTCCCTACCCTTCCTCAGCCTCTCTCCGCGGCTGC
CGGGAAAGCAAGATGCCGCGCAGGAAGGGCCCCCAACACCCTCCGCCGCCCAGTGGCCCCGAGGAGCCTGGGGAGAAGCGCCCCAAGTTT
CTGGACAAATTTGCCAGCATAAGAATTCCAGGGAGCAAGAAAGAGAGACCTCCACTTCCCAACCTGAAGACTGCATTTGCAAGCAGTGAT
TGCTCAGCAGCACCTTTAGAGATGATGGAGAACTTTCCAAAGCCACTGTCAGAGAATGAACTCTTAGAACTTTTTGAAAAAATGATGGGA
AGTCTTAAGAGAAGCCGACAGATCTCACCTCAGGAATTCATTCATGAGCTGAAAATGGGGTCTGCAGATGAGAGACTTGTCACATGCCTG
GAGTCTCTCCGAGTGTCTTTGACCAGCAATCCTGTGAGTTGGGTGGAAAGCTTTGGACATGAAGGGCTTGGATTATTATTAGACATTTTG
GAAAAACTGATTAGTGGAAAAATCCAAGAAAAAGTTGTAAAGAAAAATCAACATAAAGTCATACAGTGTCTAAAAGCCCTGATGAATACG
CAGTATGGCTTGGAAAGAATTATGAGTGAGGAGAGGAGCCTTTCCTTATTGGCCAAAGCCGTGGATCCCAGACACCCCAATATGATGACA
GATGTGGTTAAACTTCTCTCTGCGGTATGCATTGTAGGGGAAGAAAGCATCCTTGAAGAAGTTTTAGAAGCTTTAACTTCAGCTGGTGAA
GAAAAAAAAATTGACAGATTTTTTTGTATTGTGGAAGGCCTCCGGCACAATTCAGTTCAACTGCAAATGTTTCCAGCCCTCTGAAGCTTC
ATCGAACAGAGACTTTTCCAGCCTACAGATCTGAGCACTGACAGTAACTGCCAAGAATTGTTAACACACTTGTGATGTGTCAGCCACAGA
TTCACCCAGGAGGTCACAGAATGACAGCAAGGGAAATGACGACCAAGAGAAGAAGCTTAAAGTCCTGGCTAATTGTGTGGTCATTGGAAA
ACTCTGCAATACAATAATTTTCTTTATTTTCTTTTTCTTTTTTAAATTCTTAGTGTAATTGAAACGTGCTCTATAGATATTGACTCTGTG
TTCCCTCTTTTACAGCTGGACAGAAAGAAGTCAATGTCACGAAATGATTTTCTATTGTAGATACTTTGTCCCTTGCACTTCTCTGAATCT
GTCCTTTTGTGGATTCTTGTGATTTTCCTTCCAAGTGTTTCAGTTGTATGACAGTCAGTATTGACAATAAAATGGCTTTTAATTATTTGT

>22769_22769_4_DIAPH3-DOK5_DIAPH3_chr13_60582677_ENST00000400320_DOK5_chr20_53266953_ENST00000395939_length(amino acids)=297AA_BP=
MERHQPRLHHPAQGSAAGTPYPSSASLRGCRESKMPRRKGPQHPPPPSGPEEPGEKRPKFLDKFASIRIPGSKKERPPLPNLKTAFASSD
CSAAPLEMMENFPKPLSENELLELFEKMMGSLKRSRQISPQEFIHELKMGSADERLVTCLESLRVSLTSNPVSWVESFGHEGLGLLLDIL
EKLISGKIQEKVVKKNQHKVIQCLKALMNTQYGLERIMSEERSLSLLAKAVDPRHPNMMTDVVKLLSAVCIVGEESILEEVLEALTSAGE

--------------------------------------------------------------
>22769_22769_5_DIAPH3-DOK5_DIAPH3_chr13_60582677_ENST00000400324_DOK5_chr20_53266953_ENST00000395939_length(transcript)=1711nt_BP=1235nt
ATTGATCCGGCGGCGCGGGATTGGCCAGTCCCGGGCCAACACGGGTGGCGGGAGTTTTCAGATGTGTTGGCTGCGGCCCCGACTTCAGCG
GTTGGGCTAGGCTGTGCTGACTGTTTGGGTGGCGGACCCCGGGAGTAAAACCTGTTGTCGATCCCTCAGCTTCCAGCTTGCGGCTTGCTG
AGTGGCCACCTTCTTTCCGGTCCCCGGAGCTGCGGGGAAAGATGGAACGGCACCAGCCGCGGCTGCACCACCCGGCCCAAGGCTCAGCCG
CTGGGACTCCCTACCCTTCCTCAGCCTCTCTCCGCGGCTGCCGGGAAAGCAAGATGCCGCGCAGGAAGGGCCCCCAACACCCTCCGCCGC
CCAGTGGCCCCGAGGAGCCTGGGGAGAAGCGCCCCAAGTTTCATTTAAATATTAGGACACTGACGGATGATATGCTGGACAAATTTGCCA
GCATAAGAATTCCAGGGAGCAAGAAAGAGAGACCTCCACTTCCCAACCTGAAGACTGCATTTGCAAGCAGTGATTGCTCAGCAGCACCTT
TAGAGATGATGGAGAACTTTCCAAAGCCACTGTCAGAGAATGAACTCTTAGAACTTTTTGAAAAAATGATGGAAGATATGAATTTAAATG
AAGATAAAAAGGCACCATTGCGGGAAAAGGACTTCAGTATCAAAAAAGAAATGGTGATGCAGTACATTAATACTGCTTCTAAGACAGGAA
GTCTTAAGAGAAGCCGACAGATCTCACCTCAGGAATTCATTCATGAGCTGAAAATGGGGTCTGCAGATGAGAGACTTGTCACATGCCTGG
AGTCTCTCCGAGTGTCTTTGACCAGCAATCCTGTGAGTTGGGTGGAAAGCTTTGGACATGAAGGGCTTGGATTATTATTAGACATTTTGG
AAAAACTGATTAGTGGAAAAATCCAAGAAAAAGTTGTAAAGAAAAATCAACATAAAGTCATACAGTGTCTAAAAGCCCTGATGAATACGC
AGTATGGCTTGGAAAGAATTATGAGTGAGGAGAGGAGCCTTTCCTTATTGGCCAAAGCCGTGGATCCCAGACACCCCAATATGATGACAG
ATGTGGTTAAACTTCTCTCTGCGGTATGCATTGTAGGGGAAGAAAGCATCCTTGAAGAAGTTTTAGAAGCTTTAACTTCAGCTGGTGAAG
AAAAAAAAATTGACAGATTTTTTTGTATTGTGGAAGGCCTCCGGCACAATTCAGTTCAACTGCAAATGTTTCCAGCCCTCTGAAGCTTCA
TCGAACAGAGACTTTTCCAGCCTACAGATCTGAGCACTGACAGTAACTGCCAAGAATTGTTAACACACTTGTGATGTGTCAGCCACAGAT
TCACCCAGGAGGTCACAGAATGACAGCAAGGGAAATGACGACCAAGAGAAGAAGCTTAAAGTCCTGGCTAATTGTGTGGTCATTGGAAAA
CTCTGCAATACAATAATTTTCTTTATTTTCTTTTTCTTTTTTAAATTCTTAGTGTAATTGAAACGTGCTCTATAGATATTGACTCTGTGT
TCCCTCTTTTACAGCTGGACAGAAAGAAGTCAATGTCACGAAATGATTTTCTATTGTAGATACTTTGTCCCTTGCACTTCTCTGAATCTG
TCCTTTTGTGGATTCTTGTGATTTTCCTTCCAAGTGTTTCAGTTGTATGACAGTCAGTATTGACAATAAAATGGCTTTTAATTATTTGTT

>22769_22769_5_DIAPH3-DOK5_DIAPH3_chr13_60582677_ENST00000400324_DOK5_chr20_53266953_ENST00000395939_length(amino acids)=380AA_BP=
MFGWRTPGVKPVVDPSASSLRLAEWPPSFRSPELRGKMERHQPRLHHPAQGSAAGTPYPSSASLRGCRESKMPRRKGPQHPPPPSGPEEP
GEKRPKFHLNIRTLTDDMLDKFASIRIPGSKKERPPLPNLKTAFASSDCSAAPLEMMENFPKPLSENELLELFEKMMEDMNLNEDKKAPL
REKDFSIKKEMVMQYINTASKTGSLKRSRQISPQEFIHELKMGSADERLVTCLESLRVSLTSNPVSWVESFGHEGLGLLLDILEKLISGK
IQEKVVKKNQHKVIQCLKALMNTQYGLERIMSEERSLSLLAKAVDPRHPNMMTDVVKLLSAVCIVGEESILEEVLEALTSAGEEKKIDRF

--------------------------------------------------------------
>22769_22769_6_DIAPH3-DOK5_DIAPH3_chr13_60582677_ENST00000400330_DOK5_chr20_53266953_ENST00000395939_length(transcript)=1709nt_BP=1233nt
TGATCCGGCGGCGCGGGATTGGCCAGTCCCGGGCCAACACGGGTGGCGGGAGTTTTCAGATGTGTTGGCTGCGGCCCCGACTTCAGCGGT
TGGGCTAGGCTGTGCTGACTGTTTGGGTGGCGGACCCCGGGAGTAAAACCTGTTGTCGATCCCTCAGCTTCCAGCTTGCGGCTTGCTGAG
TGGCCACCTTCTTTCCGGTCCCCGGAGCTGCGGGGAAAGATGGAACGGCACCAGCCGCGGCTGCACCACCCGGCCCAAGGCTCAGCCGCT
GGGACTCCCTACCCTTCCTCAGCCTCTCTCCGCGGCTGCCGGGAAAGCAAGATGCCGCGCAGGAAGGGCCCCCAACACCCTCCGCCGCCC
AGTGGCCCCGAGGAGCCTGGGGAGAAGCGCCCCAAGTTTCATTTAAATATTAGGACACTGACGGATGATATGCTGGACAAATTTGCCAGC
ATAAGAATTCCAGGGAGCAAGAAAGAGAGACCTCCACTTCCCAACCTGAAGACTGCATTTGCAAGCAGTGATTGCTCAGCAGCACCTTTA
GAGATGATGGAGAACTTTCCAAAGCCACTGTCAGAGAATGAACTCTTAGAACTTTTTGAAAAAATGATGGAAGATATGAATTTAAATGAA
GATAAAAAGGCACCATTGCGGGAAAAGGACTTCAGTATCAAAAAAGAAATGGTGATGCAGTACATTAATACTGCTTCTAAGACAGGAAGT
CTTAAGAGAAGCCGACAGATCTCACCTCAGGAATTCATTCATGAGCTGAAAATGGGGTCTGCAGATGAGAGACTTGTCACATGCCTGGAG
TCTCTCCGAGTGTCTTTGACCAGCAATCCTGTGAGTTGGGTGGAAAGCTTTGGACATGAAGGGCTTGGATTATTATTAGACATTTTGGAA
AAACTGATTAGTGGAAAAATCCAAGAAAAAGTTGTAAAGAAAAATCAACATAAAGTCATACAGTGTCTAAAAGCCCTGATGAATACGCAG
TATGGCTTGGAAAGAATTATGAGTGAGGAGAGGAGCCTTTCCTTATTGGCCAAAGCCGTGGATCCCAGACACCCCAATATGATGACAGAT
GTGGTTAAACTTCTCTCTGCGGTATGCATTGTAGGGGAAGAAAGCATCCTTGAAGAAGTTTTAGAAGCTTTAACTTCAGCTGGTGAAGAA
AAAAAAATTGACAGATTTTTTTGTATTGTGGAAGGCCTCCGGCACAATTCAGTTCAACTGCAAATGTTTCCAGCCCTCTGAAGCTTCATC
GAACAGAGACTTTTCCAGCCTACAGATCTGAGCACTGACAGTAACTGCCAAGAATTGTTAACACACTTGTGATGTGTCAGCCACAGATTC
ACCCAGGAGGTCACAGAATGACAGCAAGGGAAATGACGACCAAGAGAAGAAGCTTAAAGTCCTGGCTAATTGTGTGGTCATTGGAAAACT
CTGCAATACAATAATTTTCTTTATTTTCTTTTTCTTTTTTAAATTCTTAGTGTAATTGAAACGTGCTCTATAGATATTGACTCTGTGTTC
CCTCTTTTACAGCTGGACAGAAAGAAGTCAATGTCACGAAATGATTTTCTATTGTAGATACTTTGTCCCTTGCACTTCTCTGAATCTGTC

>22769_22769_6_DIAPH3-DOK5_DIAPH3_chr13_60582677_ENST00000400330_DOK5_chr20_53266953_ENST00000395939_length(amino acids)=380AA_BP=
MFGWRTPGVKPVVDPSASSLRLAEWPPSFRSPELRGKMERHQPRLHHPAQGSAAGTPYPSSASLRGCRESKMPRRKGPQHPPPPSGPEEP
GEKRPKFHLNIRTLTDDMLDKFASIRIPGSKKERPPLPNLKTAFASSDCSAAPLEMMENFPKPLSENELLELFEKMMEDMNLNEDKKAPL
REKDFSIKKEMVMQYINTASKTGSLKRSRQISPQEFIHELKMGSADERLVTCLESLRVSLTSNPVSWVESFGHEGLGLLLDILEKLISGK
IQEKVVKKNQHKVIQCLKALMNTQYGLERIMSEERSLSLLAKAVDPRHPNMMTDVVKLLSAVCIVGEESILEEVLEALTSAGEEKKIDRF

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

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Fusion Gene PPI Analysis for DIAPH3-DOK5


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


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 DIAPH3-DOK5


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

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Related Diseases for DIAPH3-DOK5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDIAPH3C1852271Auditory neuropathy2CLINGEN
HgeneDIAPH3C2732267Auditory neuropathy spectrum disorder2CLINGEN
HgeneDIAPH3C1836743AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 11CTD_human;GENOMICS_ENGLAND
TgeneC0005586Bipolar Disorder1PSYGENET