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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:DVL1-OPTN

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: DVL1-OPTN
	FusionPDB ID: 24537
	FusionGDB2.0 ID: 24537
		Hgene	Tgene
	Gene symbol	DVL1	OPTN
	Gene ID	1855	10133
	Gene name	dishevelled segment polarity protein 1	optineurin
	Synonyms	DRS2\|DVL\|DVL1L1\|DVL1P1	ALS12\|FIP2\|GLC1E\|HIP7\|HYPL\|NRP\|TFIIIA-INTP
	Cytomap	1p36.33	10p13
	Type of gene	protein-coding	protein-coding
	Description	segment polarity protein dishevelled homolog DVL-1DSH homolog 1dishevelled 1 (homologous to Drosophila dsh)dishevelled, dsh homolog 1dishevelled-1	optineurinE3-14.7K-interacting proteinFIP-2HIP-7Huntingtin interacting protein Lhuntingtin yeast partner Lhuntingtin-interacting protein 7huntingtin-interacting protein Lnemo-related proteinoptic neuropathy-inducing proteintranscription factor I
	Modification date	20200313	20200327
	UniProtAcc	P54792	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000378888, ENST00000378891,	ENST00000378747, ENST00000378748, ENST00000378752, ENST00000378757, ENST00000482140, ENST00000263036, ENST00000378764,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	6 X 6 X 6=216	8 X 7 X 6=336
	# samples	9	8
	** MAII score	log2(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 (manual curation of fusion genes in FusionPDB)	PubMed: DVL1 [Title/Abstract] AND OPTN [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	DVL1(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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	DVL1	GO:0006366	transcription by RNA polymerase II	11742073
Hgene	DVL1	GO:0006469	negative regulation of protein kinase activity	10330181
Hgene	DVL1	GO:0032091	negative regulation of protein binding	19643732
Hgene	DVL1	GO:0045893	positive regulation of transcription, DNA-templated	12805222\|17593335
Hgene	DVL1	GO:0050821	protein stabilization	19625296
Hgene	DVL1	GO:0060070	canonical Wnt signaling pathway	11113207\|12556519\|14747478\|17593335
Hgene	DVL1	GO:0060071	Wnt signaling pathway, planar cell polarity pathway	12805222
Hgene	DVL1	GO:1903827	regulation of cellular protein localization	19625296
Tgene	OPTN	GO:0010508	positive regulation of autophagy	21617041
Tgene	OPTN	GO:0090161	Golgi ribbon formation	15837803

Fusion 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.

Fusion 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.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	UCS	TCGA-NA-A4R0-01A	DVL1	chr1	1284276	-	OPTN	chr10	13154453	+
ChimerDB4	UCS	TCGA-NA-A4RO	DVL1	chr1	1284276	-	OPTN	chr10	13154453	+

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	Seq length (transcript)	BP loci (transcript)	Predicted start (transcript)	Predicted stop (transcript)	Seq length (amino acids)
ENST00000378891	DVL1	chr1	1284276	-	ENST00000263036	OPTN	chr10	13154453	+	1639	217	316	1581	421
ENST00000378891	DVL1	chr1	1284276	-	ENST00000378764	OPTN	chr10	13154453	+	1827	217	316	1563	415
ENST00000378888	DVL1	chr1	1284276	-	ENST00000263036	OPTN	chr10	13154453	+	1877	455	554	1819	421
ENST00000378888	DVL1	chr1	1284276	-	ENST00000378764	OPTN	chr10	13154453	+	2065	455	554	1801	415

DeepORF 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.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000378891	ENST00000263036	DVL1	chr1	1284276	-	OPTN	chr10	13154453	+	0.004997104	0.9950029
ENST00000378891	ENST00000378764	DVL1	chr1	1284276	-	OPTN	chr10	13154453	+	0.00521209	0.99478793
ENST00000378888	ENST00000263036	DVL1	chr1	1284276	-	OPTN	chr10	13154453	+	0.0038869	0.99611306
ENST00000378888	ENST00000378764	DVL1	chr1	1284276	-	OPTN	chr10	13154453	+	0.004133034	0.995867

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Fusion Amino Acid Sequences

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

>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(amino acids)=415AA_BP=
MLGIVSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTSRSADGAKNYFEHEELTVSQLLLCLREGNQKVERLEV
ALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKLSKAELMKKRLQEKCQALERKNS
AIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEHNNALKTIEELTRKESEKVDRAVLKELSEKLEL
AEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERAAREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHG

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

>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(amino acids)=415AA_BP=
MLGIVSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTSRSADGAKNYFEHEELTVSQLLLCLREGNQKVERLEV
ALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKLSKAELMKKRLQEKCQALERKNS
AIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEHNNALKTIEELTRKESEKVDRAVLKELSEKLEL
AEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERAAREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHG

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

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Fusion Protein Functional Features

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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
DVL1 P54792	.
FUNCTION: May play a role in the signal transduction pathway mediated by multiple Wnt genes.	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.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000263036

239_508

123.0

578.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378747

239_508

123.0

578.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378748

239_508

123.0

578.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378752

239_508

123.0

572.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378757

239_508

123.0

578.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378764

239_508

123.0

572.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000263036

176_181

123.0

578.0

Motif

Note=LIR

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000263036

474_479

123.0

578.0

Motif

Note=UBAN

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378747

176_181

123.0

578.0

Motif

Note=LIR

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378747

474_479

123.0

578.0

Motif

Note=UBAN

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378748

176_181

123.0

578.0

Motif

Note=LIR

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378748

474_479

123.0

578.0

Motif

Note=UBAN

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378752

176_181

123.0

572.0

Motif

Note=LIR

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378752

474_479

123.0

572.0

Motif

Note=UBAN

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378757

176_181

123.0

578.0

Motif

Note=LIR

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378757

474_479

123.0

578.0

Motif

Note=UBAN

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378764

176_181

123.0

572.0

Motif

Note=LIR

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378764

474_479

123.0

572.0

Motif

Note=UBAN

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000263036

547_577

123.0

578.0

Zinc finger

CCHC NOA-type

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378747

547_577

123.0

578.0

Zinc finger

CCHC NOA-type

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378748

547_577

123.0

578.0

Zinc finger

CCHC NOA-type

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378752

547_577

123.0

572.0

Zinc finger

CCHC NOA-type

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378757

547_577

123.0

578.0

Zinc finger

CCHC NOA-type

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378764

547_577

123.0

572.0

Zinc finger

CCHC NOA-type

- Not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

DVL1

chr1:1284276

chr10:13154453

ENST00000378888

221_224

56.666666666666664

696.0

Compositional bias

Note=Poly-Arg

Hgene

DVL1

chr1:1284276

chr10:13154453

ENST00000378891

221_224

56.666666666666664

671.0

Compositional bias

Note=Poly-Arg

Hgene

DVL1

chr1:1284276

chr10:13154453

ENST00000378888

1_85

56.666666666666664

696.0

Domain

DIX

Hgene

DVL1

chr1:1284276

chr10:13154453

ENST00000378888

251_323

56.666666666666664

696.0

Domain

PDZ

Hgene

DVL1

chr1:1284276

chr10:13154453

ENST00000378888

425_499

56.666666666666664

696.0

Domain

DEP

Hgene

DVL1

chr1:1284276

chr10:13154453

ENST00000378891

1_85

56.666666666666664

671.0

Domain

DIX

Hgene

DVL1

chr1:1284276

chr10:13154453

ENST00000378891

251_323

56.666666666666664

671.0

Domain

PDZ

Hgene

DVL1

chr1:1284276

chr10:13154453

ENST00000378891

425_499

56.666666666666664

671.0

Domain

DEP

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000263036

38_170

123.0

578.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378747

38_170

123.0

578.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378748

38_170

123.0

578.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378752

38_170

123.0

572.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378757

38_170

123.0

578.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

OPTN

chr1:1284276

chr10:13154453

ENST00000378764

38_170

123.0

572.0

Coiled coil

Ontology_term=ECO:0000255

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Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>874_DVL1_1284276_OPTN_13154453_874_DVL1_1284276_OPTN_13154453_ranked_0.pdb	DVL1	1284276	1284276	ENST00000378764	OPTN	chr10	13154453	+	MLGIVSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGAKNYFEHEELTVSQLLLCLREGNQK VERLEVALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKLSKAELMKKRLQEKCQA LERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEHNNALKTIEELTRKESEKVDRAVLKEL SEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERAAREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLME	421

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pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

DVL1_pLDDT.png

OPTN_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

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Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

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

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
DVL1
OPTN

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Interaction lost with
Tgene	OPTN	chr1:1284276	chr10:13154453	ENST00000263036		3	15	58_209	123.0	578.0	Rab8
Tgene	OPTN	chr1:1284276	chr10:13154453	ENST00000378747		3	15	58_209	123.0	578.0	Rab8
Tgene	OPTN	chr1:1284276	chr10:13154453	ENST00000378748		4	16	58_209	123.0	578.0	Rab8
Tgene	OPTN	chr1:1284276	chr10:13154453	ENST00000378752		4	16	58_209	123.0	572.0	Rab8
Tgene	OPTN	chr1:1284276	chr10:13154453	ENST00000378757		2	14	58_209	123.0	578.0	Rab8
Tgene	OPTN	chr1:1284276	chr10:13154453	ENST00000378764		3	15	58_209	123.0	572.0	Rab8

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Related Drugs to DVL1-OPTN

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

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to DVL1-OPTN

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

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source