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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:DVL1-OPTN (FusionGDB2 ID:HG1855TG10133)

Fusion Gene Summary for DVL1-OPTN

check button Fusion gene summary
Fusion gene informationFusion gene name: DVL1-OPTN
Fusion gene ID: hg1855tg10133
HgeneTgene
Gene symbol

DVL1

OPTN

Gene ID

1855

10133

Gene namedishevelled segment polarity protein 1optineurin
SynonymsDRS2|DVL|DVL1L1|DVL1P1ALS12|FIP2|GLC1E|HIP7|HYPL|NRP|TFIIIA-INTP
Cytomap('DVL1')('OPTN')

1p36.33

10p13

Type of geneprotein-codingprotein-coding
Descriptionsegment polarity protein dishevelled homolog DVL-1DSH homolog 1dishevelled 1 (homologous to Drosophila dsh)dishevelled, dsh homolog 1dishevelled-1optineurinE3-14.7K-interacting proteinFIP-2HIP-7Huntingtin interacting protein Lhuntingtin yeast partner Lhuntingtin-interacting protein 7huntingtin-interacting protein Lnemo-related proteinoptic neuropathy-inducing proteintranscription factor I
Modification date2020031320200327
UniProtAcc

O14640

.
Ensembl transtripts involved in fusion geneENST00000378888, ENST00000378891, 
Fusion gene scores* DoF score6 X 6 X 6=2168 X 7 X 6=336
# samples 98
** MAII scorelog2(9/216*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/336*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DVL1 [Title/Abstract] AND OPTN [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDVL1(1284276)-OPTN(13154453), # samples:3
Anticipated loss of major functional domain due to fusion event.DVL1-OPTN 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.
DVL1-OPTN 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.
DVL1-OPTN 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.
DVL1-OPTN 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.
* 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
HgeneDVL1

GO:0006366

transcription by RNA polymerase II

11742073

HgeneDVL1

GO:0006469

negative regulation of protein kinase activity

10330181

HgeneDVL1

GO:0032091

negative regulation of protein binding

19643732

HgeneDVL1

GO:0045893

positive regulation of transcription, DNA-templated

12805222|17593335

HgeneDVL1

GO:0050821

protein stabilization

19625296

HgeneDVL1

GO:0060070

canonical Wnt signaling pathway

11113207|12556519|14747478|17593335

HgeneDVL1

GO:0060071

Wnt signaling pathway, planar cell polarity pathway

12805222

HgeneDVL1

GO:1903827

regulation of cellular protein localization

19625296

TgeneOPTN

GO:0010508

positive regulation of autophagy

21617041

TgeneOPTN

GO:0090161

Golgi ribbon formation

15837803


check buttonFusion gene breakpoints across DVL1 (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 OPTN (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
ChimerDB4UCSTCGA-NA-A4R0-01ADVL1chr1

1284276

-OPTNchr10

13154453

+
ChimerDB4UCSTCGA-NA-A4RODVL1chr1

1284276

-OPTNchr10

13154453

+


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Fusion Gene ORF analysis for DVL1-OPTN

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-3UTRENST00000378888ENST00000378747DVL1chr1

1284276

-OPTNchr10

13154453

+
5CDS-3UTRENST00000378888ENST00000378748DVL1chr1

1284276

-OPTNchr10

13154453

+
5CDS-3UTRENST00000378888ENST00000378752DVL1chr1

1284276

-OPTNchr10

13154453

+
5CDS-3UTRENST00000378888ENST00000378757DVL1chr1

1284276

-OPTNchr10

13154453

+
5CDS-3UTRENST00000378888ENST00000482140DVL1chr1

1284276

-OPTNchr10

13154453

+
5CDS-3UTRENST00000378891ENST00000378747DVL1chr1

1284276

-OPTNchr10

13154453

+
5CDS-3UTRENST00000378891ENST00000378748DVL1chr1

1284276

-OPTNchr10

13154453

+
5CDS-3UTRENST00000378891ENST00000378752DVL1chr1

1284276

-OPTNchr10

13154453

+
5CDS-3UTRENST00000378891ENST00000378757DVL1chr1

1284276

-OPTNchr10

13154453

+
5CDS-3UTRENST00000378891ENST00000482140DVL1chr1

1284276

-OPTNchr10

13154453

+
In-frameENST00000378888ENST00000263036DVL1chr1

1284276

-OPTNchr10

13154453

+
In-frameENST00000378888ENST00000378764DVL1chr1

1284276

-OPTNchr10

13154453

+
In-frameENST00000378891ENST00000263036DVL1chr1

1284276

-OPTNchr10

13154453

+
In-frameENST00000378891ENST00000378764DVL1chr1

1284276

-OPTNchr10

13154453

+

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)
ENST00000378891DVL1chr11284276-ENST00000263036OPTNchr1013154453+16392173161581421
ENST00000378891DVL1chr11284276-ENST00000378764OPTNchr1013154453+18272173161563415
ENST00000378888DVL1chr11284276-ENST00000263036OPTNchr1013154453+18774555541819421
ENST00000378888DVL1chr11284276-ENST00000378764OPTNchr1013154453+20654555541801415

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
ENST00000378891ENST00000263036DVL1chr11284276-OPTNchr1013154453+0.0049971040.9950029
ENST00000378891ENST00000378764DVL1chr11284276-OPTNchr1013154453+0.005212090.99478793
ENST00000378888ENST00000263036DVL1chr11284276-OPTNchr1013154453+0.00388690.99611306
ENST00000378888ENST00000378764DVL1chr11284276-OPTNchr1013154453+0.0041330340.995867

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Fusion Genomic Features for DVL1-OPTN


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)
DVL1chr11284275-OPTNchr1013154452+3.66E-131
DVL1chr11284275-OPTNchr1013154452+3.66E-131
DVL1chr11284275-OPTNchr1013154452+3.66E-131
DVL1chr11284275-OPTNchr1013154452+3.66E-131

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 DVL1-OPTN


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/chr1:1284276/chr10:13154453)
- 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
DVL1

O14640

.
FUNCTION: Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Required for LEF1 activation upon WNT1 and WNT3A signaling. DVL1 and PAK1 form a ternary complex with MUSK which is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ).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
TgeneOPTNchr1:1284276chr10:13154453ENST00000263036315239_508123578.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr1:1284276chr10:13154453ENST00000378747315239_508123578.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr1:1284276chr10:13154453ENST00000378748416239_508123578.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr1:1284276chr10:13154453ENST00000378752416239_508123572.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr1:1284276chr10:13154453ENST00000378757214239_508123578.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr1:1284276chr10:13154453ENST00000378764315239_508123572.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr1:1284276chr10:13154453ENST00000263036315176_181123578.0MotifNote=LIR
TgeneOPTNchr1:1284276chr10:13154453ENST00000263036315474_479123578.0MotifNote=UBAN
TgeneOPTNchr1:1284276chr10:13154453ENST00000378747315176_181123578.0MotifNote=LIR
TgeneOPTNchr1:1284276chr10:13154453ENST00000378747315474_479123578.0MotifNote=UBAN
TgeneOPTNchr1:1284276chr10:13154453ENST00000378748416176_181123578.0MotifNote=LIR
TgeneOPTNchr1:1284276chr10:13154453ENST00000378748416474_479123578.0MotifNote=UBAN
TgeneOPTNchr1:1284276chr10:13154453ENST00000378752416176_181123572.0MotifNote=LIR
TgeneOPTNchr1:1284276chr10:13154453ENST00000378752416474_479123572.0MotifNote=UBAN
TgeneOPTNchr1:1284276chr10:13154453ENST00000378757214176_181123578.0MotifNote=LIR
TgeneOPTNchr1:1284276chr10:13154453ENST00000378757214474_479123578.0MotifNote=UBAN
TgeneOPTNchr1:1284276chr10:13154453ENST00000378764315176_181123572.0MotifNote=LIR
TgeneOPTNchr1:1284276chr10:13154453ENST00000378764315474_479123572.0MotifNote=UBAN
TgeneOPTNchr1:1284276chr10:13154453ENST00000263036315547_577123578.0Zinc fingerCCHC NOA-type
TgeneOPTNchr1:1284276chr10:13154453ENST00000378747315547_577123578.0Zinc fingerCCHC NOA-type
TgeneOPTNchr1:1284276chr10:13154453ENST00000378748416547_577123578.0Zinc fingerCCHC NOA-type
TgeneOPTNchr1:1284276chr10:13154453ENST00000378752416547_577123572.0Zinc fingerCCHC NOA-type
TgeneOPTNchr1:1284276chr10:13154453ENST00000378757214547_577123578.0Zinc fingerCCHC NOA-type
TgeneOPTNchr1:1284276chr10:13154453ENST00000378764315547_577123572.0Zinc fingerCCHC NOA-type

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDVL1chr1:1284276chr10:13154453ENST00000378888-115221_22456696.0Compositional biasNote=Poly-Arg
HgeneDVL1chr1:1284276chr10:13154453ENST00000378891-115221_22456671.0Compositional biasNote=Poly-Arg
HgeneDVL1chr1:1284276chr10:13154453ENST00000378888-1151_8556696.0DomainDIX
HgeneDVL1chr1:1284276chr10:13154453ENST00000378888-115251_32356696.0DomainPDZ
HgeneDVL1chr1:1284276chr10:13154453ENST00000378888-115425_49956696.0DomainDEP
HgeneDVL1chr1:1284276chr10:13154453ENST00000378891-1151_8556671.0DomainDIX
HgeneDVL1chr1:1284276chr10:13154453ENST00000378891-115251_32356671.0DomainPDZ
HgeneDVL1chr1:1284276chr10:13154453ENST00000378891-115425_49956671.0DomainDEP
TgeneOPTNchr1:1284276chr10:13154453ENST0000026303631538_170123578.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr1:1284276chr10:13154453ENST0000037874731538_170123578.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr1:1284276chr10:13154453ENST0000037874841638_170123578.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr1:1284276chr10:13154453ENST0000037875241638_170123572.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr1:1284276chr10:13154453ENST0000037875721438_170123578.0Coiled coilOntology_term=ECO:0000255
TgeneOPTNchr1:1284276chr10:13154453ENST0000037876431538_170123572.0Coiled coilOntology_term=ECO:0000255


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Fusion Gene Sequence for DVL1-OPTN


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.
>24537_24537_1_DVL1-OPTN_DVL1_chr1_1284276_ENST00000378888_OPTN_chr10_13154453_ENST00000263036_length(transcript)=1877nt_BP=455nt
GGGCGGCGGGGCTGAGCGCGCCCTCCGTGCTGCGTCCCTCGCGCCGCTCCCGGGCCGGGGGCGGATGGGCGGCCGCGGGCCGCGGGGCAG
CAGTCGGGACGCGCGCGGGAGCCGGGGGCGGCGGCCGGGGCCTGGGCGGTCGGGCGGGGGCGCCCGGGGGCCTCGGAGCGTCGGGGCCGA
GAGCGGTGCGGGCCGGGCGGGGCGCAGGCGGGCGGGCGGGTAGCGCCCCGCGTCCGAGCCCCGGGCCGGGCCCTGAGCGCGCGGGCTCCG
CGCCGCCGCCGCGCCATGGCGGAGACCAAGATTATCTACCACATGGACGAGGAGGAGACGCCGTACCTGGTCAAGCTGCCCGTGGCCCCC
GAGCGCGTCACGCTGGCCGACTTCAAGAACGTGCTCAGCAACCGGCCCGTGCACGCCTACAAATTCTTCTTTAAGTCCATGGACCAGGAC
TTCGGGACCCCACTGATGACTCCAGGCTTCCCAGGGCCGAAGCGGAGCAGGAAAAGGACCAGCTCAGGACCCAGGTGGTGAGGCTACAAG
CAGAGAAGGCAGACCTGTTGGGCATCGTGTCTGAACTGCAGCTCAAGCTGAACTCCAGCGGCTCCTCAGAAGATTCCTTTGTTGAAATTA
GGATGGCTGAAGGAGAAGCAGAAGGGTCAGTAAAAGAAATCAAGCATAGTCCTGGGCCCACGAGAACAGTCTCCACTGGCACGGCATTGT
CTAAATATAGGAGCAGATCTGCAGATGGGGCCAAGAATTACTTCGAACATGAGGAGTTAACTGTGAGCCAGCTCCTGCTGTGCCTAAGGG
AAGGGAATCAGAAGGTGGAGAGACTTGAAGTTGCACTCAAGGAGGCCAAAGAAAGAGTTTCAGATTTTGAAAAGAAAACAAGTAATCGTT
CTGAGATTGAAACCCAGACAGAGGGGAGCACAGAGAAAGAGAATGATGAAGAGAAAGGCCCGGAGACTGTTGGAAGCGAAGTGGAAGCAC
TGAACCTCCAGGTGACATCTCTGTTTAAGGAGCTTCAAGAGGCTCATACAAAACTCAGCAAAGCTGAGCTAATGAAGAAGAGACTTCAAG
AAAAGTGTCAGGCCCTTGAAAGGAAAAATTCTGCAATTCCATCAGAGTTGAATGAAAAGCAAGAGCTTGTTTATACTAACAAAAAGTTAG
AGCTACAAGTGGAAAGCATGCTATCAGAAATCAAAATGGAACAGGCTAAAACAGAGGATGAAAAGTCCAAATTAACTGTGCTACAGATGA
CACACAACAAGCTTCTTCAAGAACATAATAATGCATTGAAAACAATTGAGGAACTAACAAGAAAAGAGTCAGAAAAAGTGGACAGGGCAG
TGCTGAAGGAACTGAGTGAAAAACTGGAACTGGCAGAGAAGGCTCTGGCTTCCAAACAGCTGCAAATGGATGAAATGAAGCAAACCATTG
CCAAGCAGGAAGAGGACCTGGAAACCATGACCATCCTCAGGGCTCAGATGGAAGTTTACTGTTCTGATTTTCATGCTGAAAGAGCAGCGA
GAGAGAAAATTCATGAGGAAAAGGAGCAACTGGCATTGCAGCTGGCAGTTCTGCTGAAAGAGAATGATGCTTTCGAAGACGGAGGCAGGC
AGTCCTTGATGGAGATGCAGAGTCGTCATGGGGCGAGAACAAGTGACTCTGACCAGCAGGCTTACCTTGTTCAAAGAGGAGCTGAGGACA
GGGACTGGCGGCAACAGCGGAATATTCCGATTCATTCCTGCCCCAAGTGTGGAGAGGTTCTGCCTGACATAGACACGTTACAGATTCACG

>24537_24537_1_DVL1-OPTN_DVL1_chr1_1284276_ENST00000378888_OPTN_chr10_13154453_ENST00000263036_length(amino acids)=421AA_BP=
MLGIVSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGAKNYFEHEELTVSQLLLCLREGNQK
VERLEVALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKLSKAELMKKRLQEKCQA
LERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEHNNALKTIEELTRKESEKVDRAVLKEL
SEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERAAREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLME

--------------------------------------------------------------
>24537_24537_2_DVL1-OPTN_DVL1_chr1_1284276_ENST00000378888_OPTN_chr10_13154453_ENST00000378764_length(transcript)=2065nt_BP=455nt
GGGCGGCGGGGCTGAGCGCGCCCTCCGTGCTGCGTCCCTCGCGCCGCTCCCGGGCCGGGGGCGGATGGGCGGCCGCGGGCCGCGGGGCAG
CAGTCGGGACGCGCGCGGGAGCCGGGGGCGGCGGCCGGGGCCTGGGCGGTCGGGCGGGGGCGCCCGGGGGCCTCGGAGCGTCGGGGCCGA
GAGCGGTGCGGGCCGGGCGGGGCGCAGGCGGGCGGGCGGGTAGCGCCCCGCGTCCGAGCCCCGGGCCGGGCCCTGAGCGCGCGGGCTCCG
CGCCGCCGCCGCGCCATGGCGGAGACCAAGATTATCTACCACATGGACGAGGAGGAGACGCCGTACCTGGTCAAGCTGCCCGTGGCCCCC
GAGCGCGTCACGCTGGCCGACTTCAAGAACGTGCTCAGCAACCGGCCCGTGCACGCCTACAAATTCTTCTTTAAGTCCATGGACCAGGAC
TTCGGGACCCCACTGATGACTCCAGGCTTCCCAGGGCCGAAGCGGAGCAGGAAAAGGACCAGCTCAGGACCCAGGTGGTGAGGCTACAAG
CAGAGAAGGCAGACCTGTTGGGCATCGTGTCTGAACTGCAGCTCAAGCTGAACTCCAGCGGCTCCTCAGAAGATTCCTTTGTTGAAATTA
GGATGGCTGAAGGAGAAGCAGAAGGGTCAGTAAAAGAAATCAAGCATAGTCCTGGGCCCACGAGAACAGTCTCCACTGGCACGAGCAGAT
CTGCAGATGGGGCCAAGAATTACTTCGAACATGAGGAGTTAACTGTGAGCCAGCTCCTGCTGTGCCTAAGGGAAGGGAATCAGAAGGTGG
AGAGACTTGAAGTTGCACTCAAGGAGGCCAAAGAAAGAGTTTCAGATTTTGAAAAGAAAACAAGTAATCGTTCTGAGATTGAAACCCAGA
CAGAGGGGAGCACAGAGAAAGAGAATGATGAAGAGAAAGGCCCGGAGACTGTTGGAAGCGAAGTGGAAGCACTGAACCTCCAGGTGACAT
CTCTGTTTAAGGAGCTTCAAGAGGCTCATACAAAACTCAGCAAAGCTGAGCTAATGAAGAAGAGACTTCAAGAAAAGTGTCAGGCCCTTG
AAAGGAAAAATTCTGCAATTCCATCAGAGTTGAATGAAAAGCAAGAGCTTGTTTATACTAACAAAAAGTTAGAGCTACAAGTGGAAAGCA
TGCTATCAGAAATCAAAATGGAACAGGCTAAAACAGAGGATGAAAAGTCCAAATTAACTGTGCTACAGATGACACACAACAAGCTTCTTC
AAGAACATAATAATGCATTGAAAACAATTGAGGAACTAACAAGAAAAGAGTCAGAAAAAGTGGACAGGGCAGTGCTGAAGGAACTGAGTG
AAAAACTGGAACTGGCAGAGAAGGCTCTGGCTTCCAAACAGCTGCAAATGGATGAAATGAAGCAAACCATTGCCAAGCAGGAAGAGGACC
TGGAAACCATGACCATCCTCAGGGCTCAGATGGAAGTTTACTGTTCTGATTTTCATGCTGAAAGAGCAGCGAGAGAGAAAATTCATGAGG
AAAAGGAGCAACTGGCATTGCAGCTGGCAGTTCTGCTGAAAGAGAATGATGCTTTCGAAGACGGAGGCAGGCAGTCCTTGATGGAGATGC
AGAGTCGTCATGGGGCGAGAACAAGTGACTCTGACCAGCAGGCTTACCTTGTTCAAAGAGGAGCTGAGGACAGGGACTGGCGGCAACAGC
GGAATATTCCGATTCATTCCTGCCCCAAGTGTGGAGAGGTTCTGCCTGACATAGACACGTTACAGATTCACGTGATGGATTGCATCATTT
AAGTGTTGATGTATCACCTCCCCAAAACTGTTGGTAAATGTCAGATTTTTTCCTCCAAGAGTTGTGCTTTTGTGTTATTTGTTTTCACTC
AAATATTTTGCCTCATTATTCTTGTTTTAAAAGAAAGAAAACAGGCCGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGT

>24537_24537_2_DVL1-OPTN_DVL1_chr1_1284276_ENST00000378888_OPTN_chr10_13154453_ENST00000378764_length(amino acids)=415AA_BP=
MLGIVSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTSRSADGAKNYFEHEELTVSQLLLCLREGNQKVERLEV
ALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKLSKAELMKKRLQEKCQALERKNS
AIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEHNNALKTIEELTRKESEKVDRAVLKELSEKLEL
AEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERAAREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHG

--------------------------------------------------------------
>24537_24537_3_DVL1-OPTN_DVL1_chr1_1284276_ENST00000378891_OPTN_chr10_13154453_ENST00000263036_length(transcript)=1639nt_BP=217nt
CCCCGGGCCGGGCCCTGAGCGCGCGGGCTCCGCGCCGCCGCCGCGCCATGGCGGAGACCAAGATTATCTACCACATGGACGAGGAGGAGA
CGCCGTACCTGGTCAAGCTGCCCGTGGCCCCCGAGCGCGTCACGCTGGCCGACTTCAAGAACGTGCTCAGCAACCGGCCCGTGCACGCCT
ACAAATTCTTCTTTAAGTCCATGGACCAGGACTTCGGGACCCCACTGATGACTCCAGGCTTCCCAGGGCCGAAGCGGAGCAGGAAAAGGA
CCAGCTCAGGACCCAGGTGGTGAGGCTACAAGCAGAGAAGGCAGACCTGTTGGGCATCGTGTCTGAACTGCAGCTCAAGCTGAACTCCAG
CGGCTCCTCAGAAGATTCCTTTGTTGAAATTAGGATGGCTGAAGGAGAAGCAGAAGGGTCAGTAAAAGAAATCAAGCATAGTCCTGGGCC
CACGAGAACAGTCTCCACTGGCACGGCATTGTCTAAATATAGGAGCAGATCTGCAGATGGGGCCAAGAATTACTTCGAACATGAGGAGTT
AACTGTGAGCCAGCTCCTGCTGTGCCTAAGGGAAGGGAATCAGAAGGTGGAGAGACTTGAAGTTGCACTCAAGGAGGCCAAAGAAAGAGT
TTCAGATTTTGAAAAGAAAACAAGTAATCGTTCTGAGATTGAAACCCAGACAGAGGGGAGCACAGAGAAAGAGAATGATGAAGAGAAAGG
CCCGGAGACTGTTGGAAGCGAAGTGGAAGCACTGAACCTCCAGGTGACATCTCTGTTTAAGGAGCTTCAAGAGGCTCATACAAAACTCAG
CAAAGCTGAGCTAATGAAGAAGAGACTTCAAGAAAAGTGTCAGGCCCTTGAAAGGAAAAATTCTGCAATTCCATCAGAGTTGAATGAAAA
GCAAGAGCTTGTTTATACTAACAAAAAGTTAGAGCTACAAGTGGAAAGCATGCTATCAGAAATCAAAATGGAACAGGCTAAAACAGAGGA
TGAAAAGTCCAAATTAACTGTGCTACAGATGACACACAACAAGCTTCTTCAAGAACATAATAATGCATTGAAAACAATTGAGGAACTAAC
AAGAAAAGAGTCAGAAAAAGTGGACAGGGCAGTGCTGAAGGAACTGAGTGAAAAACTGGAACTGGCAGAGAAGGCTCTGGCTTCCAAACA
GCTGCAAATGGATGAAATGAAGCAAACCATTGCCAAGCAGGAAGAGGACCTGGAAACCATGACCATCCTCAGGGCTCAGATGGAAGTTTA
CTGTTCTGATTTTCATGCTGAAAGAGCAGCGAGAGAGAAAATTCATGAGGAAAAGGAGCAACTGGCATTGCAGCTGGCAGTTCTGCTGAA
AGAGAATGATGCTTTCGAAGACGGAGGCAGGCAGTCCTTGATGGAGATGCAGAGTCGTCATGGGGCGAGAACAAGTGACTCTGACCAGCA
GGCTTACCTTGTTCAAAGAGGAGCTGAGGACAGGGACTGGCGGCAACAGCGGAATATTCCGATTCATTCCTGCCCCAAGTGTGGAGAGGT
TCTGCCTGACATAGACACGTTACAGATTCACGTGATGGATTGCATCATTTAAGTGTTGATGTATCACCTCCCCAAAACTGTTGGTAAATG

>24537_24537_3_DVL1-OPTN_DVL1_chr1_1284276_ENST00000378891_OPTN_chr10_13154453_ENST00000263036_length(amino acids)=421AA_BP=
MLGIVSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGAKNYFEHEELTVSQLLLCLREGNQK
VERLEVALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKLSKAELMKKRLQEKCQA
LERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEHNNALKTIEELTRKESEKVDRAVLKEL
SEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERAAREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLME

--------------------------------------------------------------
>24537_24537_4_DVL1-OPTN_DVL1_chr1_1284276_ENST00000378891_OPTN_chr10_13154453_ENST00000378764_length(transcript)=1827nt_BP=217nt
CCCCGGGCCGGGCCCTGAGCGCGCGGGCTCCGCGCCGCCGCCGCGCCATGGCGGAGACCAAGATTATCTACCACATGGACGAGGAGGAGA
CGCCGTACCTGGTCAAGCTGCCCGTGGCCCCCGAGCGCGTCACGCTGGCCGACTTCAAGAACGTGCTCAGCAACCGGCCCGTGCACGCCT
ACAAATTCTTCTTTAAGTCCATGGACCAGGACTTCGGGACCCCACTGATGACTCCAGGCTTCCCAGGGCCGAAGCGGAGCAGGAAAAGGA
CCAGCTCAGGACCCAGGTGGTGAGGCTACAAGCAGAGAAGGCAGACCTGTTGGGCATCGTGTCTGAACTGCAGCTCAAGCTGAACTCCAG
CGGCTCCTCAGAAGATTCCTTTGTTGAAATTAGGATGGCTGAAGGAGAAGCAGAAGGGTCAGTAAAAGAAATCAAGCATAGTCCTGGGCC
CACGAGAACAGTCTCCACTGGCACGAGCAGATCTGCAGATGGGGCCAAGAATTACTTCGAACATGAGGAGTTAACTGTGAGCCAGCTCCT
GCTGTGCCTAAGGGAAGGGAATCAGAAGGTGGAGAGACTTGAAGTTGCACTCAAGGAGGCCAAAGAAAGAGTTTCAGATTTTGAAAAGAA
AACAAGTAATCGTTCTGAGATTGAAACCCAGACAGAGGGGAGCACAGAGAAAGAGAATGATGAAGAGAAAGGCCCGGAGACTGTTGGAAG
CGAAGTGGAAGCACTGAACCTCCAGGTGACATCTCTGTTTAAGGAGCTTCAAGAGGCTCATACAAAACTCAGCAAAGCTGAGCTAATGAA
GAAGAGACTTCAAGAAAAGTGTCAGGCCCTTGAAAGGAAAAATTCTGCAATTCCATCAGAGTTGAATGAAAAGCAAGAGCTTGTTTATAC
TAACAAAAAGTTAGAGCTACAAGTGGAAAGCATGCTATCAGAAATCAAAATGGAACAGGCTAAAACAGAGGATGAAAAGTCCAAATTAAC
TGTGCTACAGATGACACACAACAAGCTTCTTCAAGAACATAATAATGCATTGAAAACAATTGAGGAACTAACAAGAAAAGAGTCAGAAAA
AGTGGACAGGGCAGTGCTGAAGGAACTGAGTGAAAAACTGGAACTGGCAGAGAAGGCTCTGGCTTCCAAACAGCTGCAAATGGATGAAAT
GAAGCAAACCATTGCCAAGCAGGAAGAGGACCTGGAAACCATGACCATCCTCAGGGCTCAGATGGAAGTTTACTGTTCTGATTTTCATGC
TGAAAGAGCAGCGAGAGAGAAAATTCATGAGGAAAAGGAGCAACTGGCATTGCAGCTGGCAGTTCTGCTGAAAGAGAATGATGCTTTCGA
AGACGGAGGCAGGCAGTCCTTGATGGAGATGCAGAGTCGTCATGGGGCGAGAACAAGTGACTCTGACCAGCAGGCTTACCTTGTTCAAAG
AGGAGCTGAGGACAGGGACTGGCGGCAACAGCGGAATATTCCGATTCATTCCTGCCCCAAGTGTGGAGAGGTTCTGCCTGACATAGACAC
GTTACAGATTCACGTGATGGATTGCATCATTTAAGTGTTGATGTATCACCTCCCCAAAACTGTTGGTAAATGTCAGATTTTTTCCTCCAA
GAGTTGTGCTTTTGTGTTATTTGTTTTCACTCAAATATTTTGCCTCATTATTCTTGTTTTAAAAGAAAGAAAACAGGCCGGGCACAGTGG
CTCATGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCACTTGGGGTCAGGGTTTGAGACCAGCCTGGCCAACATGGCGGA

>24537_24537_4_DVL1-OPTN_DVL1_chr1_1284276_ENST00000378891_OPTN_chr10_13154453_ENST00000378764_length(amino acids)=415AA_BP=
MLGIVSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTSRSADGAKNYFEHEELTVSQLLLCLREGNQKVERLEV
ALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKLSKAELMKKRLQEKCQALERKNS
AIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEHNNALKTIEELTRKESEKVDRAVLKELSEKLEL
AEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERAAREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHG

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

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Fusion Gene PPI Analysis for DVL1-OPTN


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
TgeneOPTNchr1:1284276chr10:13154453ENST00000263036315411_577123.0578.0HD
TgeneOPTNchr1:1284276chr10:13154453ENST00000378747315411_577123.0578.0HD
TgeneOPTNchr1:1284276chr10:13154453ENST00000378748416411_577123.0578.0HD
TgeneOPTNchr1:1284276chr10:13154453ENST00000378752416411_577123.0572.0HD
TgeneOPTNchr1:1284276chr10:13154453ENST00000378757214411_577123.0578.0HD
TgeneOPTNchr1:1284276chr10:13154453ENST00000378764315411_577123.0572.0HD
TgeneOPTNchr1:1284276chr10:13154453ENST00000263036315412_520123.0578.0MYO6
TgeneOPTNchr1:1284276chr10:13154453ENST00000378747315412_520123.0578.0MYO6
TgeneOPTNchr1:1284276chr10:13154453ENST00000378748416412_520123.0578.0MYO6
TgeneOPTNchr1:1284276chr10:13154453ENST00000378752416412_520123.0572.0MYO6
TgeneOPTNchr1:1284276chr10:13154453ENST00000378757214412_520123.0578.0MYO6
TgeneOPTNchr1:1284276chr10:13154453ENST00000378764315412_520123.0572.0MYO6


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneOPTNchr1:1284276chr10:13154453ENST0000026303631558_209123.0578.0Rab8
TgeneOPTNchr1:1284276chr10:13154453ENST0000037874731558_209123.0578.0Rab8
TgeneOPTNchr1:1284276chr10:13154453ENST0000037874841658_209123.0578.0Rab8
TgeneOPTNchr1:1284276chr10:13154453ENST0000037875241658_209123.0572.0Rab8
TgeneOPTNchr1:1284276chr10:13154453ENST0000037875721458_209123.0578.0Rab8
TgeneOPTNchr1:1284276chr10:13154453ENST0000037876431558_209123.0572.0Rab8


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 DVL1-OPTN


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 DVL1-OPTN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDVL1C4225363ROBINOW SYNDROME, AUTOSOMAL DOMINANT 22GENOMICS_ENGLAND
HgeneDVL1C0265205Robinow Syndrome1CTD_human;ORPHANET
TgeneC0339573Glaucoma, Primary Open Angle14CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0002736Amyotrophic Lateral Sclerosis3CTD_human;ORPHANET
TgeneC0017612Glaucoma, Open-Angle2CTD_human
TgeneC0029401Osteitis Deformans2CTD_human
TgeneC0271148Secondary Open Angle Glaucoma2CTD_human
TgeneC0393554Amyotrophic Lateral Sclerosis With Dementia2CTD_human
TgeneC0543859Amyotrophic Lateral Sclerosis, Guam Form2CTD_human
TgeneC3150692AMYOTROPHIC LATERAL SCLEROSIS 122CTD_human;UNIPROT
TgeneC1847730GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding)1CTD_human;GENOMICS_ENGLAND