Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ARFGAP3-FBLN1 (FusionGDB2 ID:HG26286TG2192)

Fusion Gene Summary for ARFGAP3-FBLN1

check button Fusion gene summary
Fusion gene informationFusion gene name: ARFGAP3-FBLN1
Fusion gene ID: hg26286tg2192
HgeneTgene
Gene symbol

ARFGAP3

FBLN1

Gene ID

26286

2192

Gene nameADP ribosylation factor GTPase activating protein 3fibulin 1
SynonymsARFGAP1FBLN|FIBL1
Cytomap('ARFGAP3')('FBLN1')

22q13.2

22q13.31

Type of geneprotein-codingprotein-coding
DescriptionADP-ribosylation factor GTPase-activating protein 3ADP-ribosylation factor GTPase activating protein 1ARF GAP 3fibulin-1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000263245, ENST00000429508, 
ENST00000437119, 
Fusion gene scores* DoF score6 X 7 X 4=16822 X 22 X 9=4356
# samples 827
** MAII scorelog2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(27/4356*10)=-4.01197264166608
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARFGAP3 [Title/Abstract] AND FBLN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARFGAP3(43253120)-FBLN1(45996187), # samples:3
Anticipated loss of major functional domain due to fusion event.ARFGAP3-FBLN1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
TgeneFBLN1

GO:0001933

negative regulation of protein phosphorylation

11792823

TgeneFBLN1

GO:0007162

negative regulation of cell adhesion

11792823

TgeneFBLN1

GO:0007229

integrin-mediated signaling pathway

11792823

TgeneFBLN1

GO:0070373

negative regulation of ERK1 and ERK2 cascade

11792823

TgeneFBLN1

GO:0072378

blood coagulation, fibrin clot formation

7642629

TgeneFBLN1

GO:1900025

negative regulation of substrate adhesion-dependent cell spreading

11792823

TgeneFBLN1

GO:2000146

negative regulation of cell motility

11792823

TgeneFBLN1

GO:2000647

negative regulation of stem cell proliferation

11238726



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
ChimerDB4SKCMTCGA-FS-A4F4-06AARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
ChimerDB4SKCMTCGA-FS-A4F4ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+


Top

Fusion Gene ORF analysis for ARFGAP3-FBLN1

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-intronENST00000263245ENST00000262722ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
5CDS-intronENST00000263245ENST00000262722ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+
5CDS-intronENST00000263245ENST00000327858ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
5CDS-intronENST00000263245ENST00000327858ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+
5CDS-intronENST00000263245ENST00000340923ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
5CDS-intronENST00000263245ENST00000340923ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+
5CDS-intronENST00000263245ENST00000402984ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
5CDS-intronENST00000263245ENST00000402984ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+
5CDS-intronENST00000263245ENST00000442170ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
5CDS-intronENST00000263245ENST00000442170ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+
5CDS-intronENST00000263245ENST00000476366ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
5CDS-intronENST00000263245ENST00000476366ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+
5CDS-intronENST00000429508ENST00000262722ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
5CDS-intronENST00000429508ENST00000262722ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+
5CDS-intronENST00000429508ENST00000327858ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
5CDS-intronENST00000429508ENST00000327858ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+
5CDS-intronENST00000429508ENST00000340923ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
5CDS-intronENST00000429508ENST00000340923ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+
5CDS-intronENST00000429508ENST00000402984ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
5CDS-intronENST00000429508ENST00000402984ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+
5CDS-intronENST00000429508ENST00000442170ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
5CDS-intronENST00000429508ENST00000442170ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+
5CDS-intronENST00000429508ENST00000476366ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
5CDS-intronENST00000429508ENST00000476366ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+
5CDS-intronENST00000437119ENST00000262722ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
5CDS-intronENST00000437119ENST00000262722ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+
5CDS-intronENST00000437119ENST00000327858ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
5CDS-intronENST00000437119ENST00000327858ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+
5CDS-intronENST00000437119ENST00000340923ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
5CDS-intronENST00000437119ENST00000340923ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+
5CDS-intronENST00000437119ENST00000402984ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
5CDS-intronENST00000437119ENST00000402984ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+
5CDS-intronENST00000437119ENST00000442170ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
5CDS-intronENST00000437119ENST00000442170ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+
5CDS-intronENST00000437119ENST00000476366ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
5CDS-intronENST00000437119ENST00000476366ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+
Frame-shiftENST00000263245ENST00000348697ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
Frame-shiftENST00000263245ENST00000348697ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+
Frame-shiftENST00000429508ENST00000348697ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
Frame-shiftENST00000429508ENST00000348697ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+
Frame-shiftENST00000437119ENST00000348697ARFGAP3chr22

43253120

-FBLN1chr22

45996187

+
Frame-shiftENST00000437119ENST00000348697ARFGAP3chr22

43253119

-FBLN1chr22

45996186

+

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

Top

Fusion Genomic Features for ARFGAP3-FBLN1


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)
ARFGAP3chr2243253119-FBLN1chr2245996186+4.12E-070.99999964
ARFGAP3chr2243253119-FBLN1chr2245996186+4.12E-070.99999964
ARFGAP3chr2243253119-FBLN1chr2245996186+4.12E-070.99999964
ARFGAP3chr2243253119-FBLN1chr2245996186+4.12E-070.99999964


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%

Top

Fusion Protein Features for ARFGAP3-FBLN1


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/:43253120/:45996187)
- 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

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


Top

Fusion Gene Sequence for ARFGAP3-FBLN1


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.

Top

Fusion Gene PPI Analysis for ARFGAP3-FBLN1


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


Top

Related Drugs for ARFGAP3-FBLN1


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

Top

Related Diseases for ARFGAP3-FBLN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC1842422Synpolydactyly 23CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0014175Endometriosis1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0269102Endometrioma1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human