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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:ACAP3-DVL1 (FusionGDB2 ID:HG116983TG1855)

Fusion Gene Summary for ACAP3-DVL1

check button Fusion gene summary
Fusion gene informationFusion gene name: ACAP3-DVL1
Fusion gene ID: hg116983tg1855
HgeneTgene
Gene symbol

ACAP3

DVL1

Gene ID

116983

1855

Gene nameArfGAP with coiled-coil, ankyrin repeat and PH domains 3dishevelled segment polarity protein 1
SynonymsCENTB5DRS2|DVL|DVL1L1|DVL1P1
Cytomap('ACAP3')('DVL1')

1p36.33

1p36.33

Type of geneprotein-codingprotein-coding
Descriptionarf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3centaurin-beta-5cnt-b5segment polarity protein dishevelled homolog DVL-1DSH homolog 1dishevelled 1 (homologous to Drosophila dsh)dishevelled, dsh homolog 1dishevelled-1
Modification date2020031320200313
UniProtAcc.

O14640

Ensembl transtripts involved in fusion geneENST00000353662, ENST00000354700, 
ENST00000379037, 
Fusion gene scores* DoF score5 X 7 X 7=2453 X 1 X 4=12
# samples 84
** MAII scorelog2(8/245*10)=-1.61470984411521
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/12*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ACAP3 [Title/Abstract] AND DVL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACAP3(1243149)-DVL1(1278138), # samples:5
Anticipated loss of major functional domain due to fusion event.ACAP3-DVL1 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.
ACAP3-DVL1 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.
ACAP3-DVL1 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.
ACAP3-DVL1 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
TgeneDVL1

GO:0006366

transcription by RNA polymerase II

11742073

TgeneDVL1

GO:0006469

negative regulation of protein kinase activity

10330181

TgeneDVL1

GO:0032091

negative regulation of protein binding

19643732

TgeneDVL1

GO:0045893

positive regulation of transcription, DNA-templated

12805222|17593335

TgeneDVL1

GO:0050821

protein stabilization

19625296

TgeneDVL1

GO:0060070

canonical Wnt signaling pathway

11113207|12556519|14747478|17593335

TgeneDVL1

GO:0060071

Wnt signaling pathway, planar cell polarity pathway

12805222

TgeneDVL1

GO:1903827

regulation of cellular protein localization

19625296


check buttonFusion gene breakpoints across ACAP3 (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 DVL1 (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
ChimerDB4GBMTCGA-76-4926-01BACAP3chr1

1243149

-DVL1chr1

1278138

-
ChimerDB4LUSCTCGA-96-A4JK-01AACAP3chr1

1243149

-DVL1chr1

1278138

-
ChimerDB4LUSCTCGA-96-A4JKACAP3chr1

1243149

-DVL1chr1

1278138

-
ChimerDB4STADTCGA-BR-8289ACAP3chr1

1229469

-DVL1chr1

1278138

-


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Fusion Gene ORF analysis for ACAP3-DVL1

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
5UTR-3CDSENST00000353662ENST00000378888ACAP3chr1

1243149

-DVL1chr1

1278138

-
5UTR-3CDSENST00000353662ENST00000378891ACAP3chr1

1243149

-DVL1chr1

1278138

-
Frame-shiftENST00000353662ENST00000378888ACAP3chr1

1229469

-DVL1chr1

1278138

-
Frame-shiftENST00000353662ENST00000378891ACAP3chr1

1229469

-DVL1chr1

1278138

-
Frame-shiftENST00000354700ENST00000378888ACAP3chr1

1243149

-DVL1chr1

1278138

-
Frame-shiftENST00000354700ENST00000378891ACAP3chr1

1243149

-DVL1chr1

1278138

-
In-frameENST00000354700ENST00000378888ACAP3chr1

1229469

-DVL1chr1

1278138

-
In-frameENST00000354700ENST00000378891ACAP3chr1

1229469

-DVL1chr1

1278138

-
intron-3CDSENST00000379037ENST00000378888ACAP3chr1

1243149

-DVL1chr1

1278138

-
intron-3CDSENST00000379037ENST00000378888ACAP3chr1

1229469

-DVL1chr1

1278138

-
intron-3CDSENST00000379037ENST00000378891ACAP3chr1

1243149

-DVL1chr1

1278138

-
intron-3CDSENST00000379037ENST00000378891ACAP3chr1

1229469

-DVL1chr1

1278138

-

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)

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

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Fusion Genomic Features for ACAP3-DVL1


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.
genomic feature

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Fusion Protein Features for ACAP3-DVL1


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/chr1:1243149/chr1:1278138)
- 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: 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: 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).

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
HgeneACAP3chr1:1229469chr1:1278138ENST00000353662-2123268_363674760.0DomainPH
HgeneACAP3chr1:1229469chr1:1278138ENST00000353662-2123403_525674760.0DomainArf-GAP
HgeneACAP3chr1:1229469chr1:1278138ENST00000354700-2224268_363749835.0DomainPH
HgeneACAP3chr1:1229469chr1:1278138ENST00000354700-2224403_525749835.0DomainArf-GAP
HgeneACAP3chr1:1229469chr1:1278138ENST00000354700-2224702_731749835.0RepeatNote=ANK 1
HgeneACAP3chr1:1229469chr1:1278138ENST00000353662-2123418_441674760.0Zinc fingerC4-type
HgeneACAP3chr1:1229469chr1:1278138ENST00000354700-2224418_441749835.0Zinc fingerC4-type
TgeneDVL1chr1:1229469chr1:1278138ENST00000378888015221_22456696.0Compositional biasNote=Poly-Arg
TgeneDVL1chr1:1229469chr1:1278138ENST00000378891015221_22456671.0Compositional biasNote=Poly-Arg
TgeneDVL1chr1:1229469chr1:1278138ENST00000378888015251_32356696.0DomainPDZ
TgeneDVL1chr1:1229469chr1:1278138ENST00000378888015425_49956696.0DomainDEP
TgeneDVL1chr1:1229469chr1:1278138ENST00000378891015251_32356671.0DomainPDZ
TgeneDVL1chr1:1229469chr1:1278138ENST00000378891015425_49956671.0DomainDEP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneACAP3chr1:1229469chr1:1278138ENST00000353662-2123702_731674760.0RepeatNote=ANK 1
HgeneACAP3chr1:1229469chr1:1278138ENST00000353662-2123735_764674760.0RepeatNote=ANK 2
HgeneACAP3chr1:1229469chr1:1278138ENST00000353662-2123768_797674760.0RepeatNote=ANK 3
HgeneACAP3chr1:1229469chr1:1278138ENST00000354700-2224735_764749835.0RepeatNote=ANK 2
HgeneACAP3chr1:1229469chr1:1278138ENST00000354700-2224768_797749835.0RepeatNote=ANK 3
TgeneDVL1chr1:1229469chr1:1278138ENST000003788880151_8556696.0DomainDIX
TgeneDVL1chr1:1229469chr1:1278138ENST000003788910151_8556671.0DomainDIX


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Fusion Gene Sequence for ACAP3-DVL1


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.

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Fusion Gene PPI Analysis for ACAP3-DVL1


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 ACAP3-DVL1


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 ACAP3-DVL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC4225363ROBINOW SYNDROME, AUTOSOMAL DOMINANT 22GENOMICS_ENGLAND
TgeneC0265205Robinow Syndrome1CTD_human;ORPHANET