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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:FBLN1-PAK4 (FusionGDB2 ID:29536)

Fusion Gene Summary for FBLN1-PAK4

check button Fusion gene summary
Fusion gene informationFusion gene name: FBLN1-PAK4
Fusion gene ID: 29536
HgeneTgene
Gene symbol

FBLN1

PAK4

Gene ID

2192

10298

Gene namefibulin 1p21 (RAC1) activated kinase 4
SynonymsFBLN|FIBL1-
Cytomap

22q13.31

19q13.2

Type of geneprotein-codingprotein-coding
Descriptionfibulin-1serine/threonine-protein kinase PAK 4p21 protein (Cdc42/Rac)-activated kinase 4p21(CDKN1A)-activated kinase 4protein kinase related to S. cerevisiae STE20, effector for Cdc42Hs
Modification date2020031320200313
UniProtAcc

P23142

C3orf54,FAM212A

Ensembl transtripts involved in fusion geneENST00000476366, ENST00000262722, 
ENST00000327858, ENST00000340923, 
ENST00000348697, ENST00000402984, 
ENST00000442170, 		ENST00000321944, 
ENST00000358301, ENST00000360442, 
ENST00000435673, ENST00000593690, 
ENST00000599386, ENST00000599470, 
ENST00000597766, 
Fusion gene scores* DoF score15 X 14 X 8=16808 X 8 X 3=192
# samples 179
** MAII scorelog2(17/1680*10)=-3.30485458152842
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/192*10)=-1.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FBLN1 [Title/Abstract] AND PAK4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFBLN1(45946495)-PAK4(39660172), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneFBLN1

GO:0001933

negative regulation of protein phosphorylation

11792823

HgeneFBLN1

GO:0007162

negative regulation of cell adhesion

11792823

HgeneFBLN1

GO:0007229

integrin-mediated signaling pathway

11792823

HgeneFBLN1

GO:0070373

negative regulation of ERK1 and ERK2 cascade

11792823

HgeneFBLN1

GO:0072378

blood coagulation, fibrin clot formation

7642629

HgeneFBLN1

GO:1900025

negative regulation of substrate adhesion-dependent cell spreading

11792823

HgeneFBLN1

GO:2000146

negative regulation of cell motility

11792823

HgeneFBLN1

GO:2000647

negative regulation of stem cell proliferation

11238726


check buttonFusion gene breakpoints across FBLN1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across PAK4 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LUSCTCGA-43-5670-01AFBLN1chr22

45946495

+PAK4chr19

39660172

+


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Fusion Gene ORF analysis for FBLN1-PAK4

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
3UTR-5UTRENST00000476366ENST00000321944FBLN1chr22

45946495

+PAK4chr19

39660172

+
3UTR-5UTRENST00000476366ENST00000358301FBLN1chr22

45946495

+PAK4chr19

39660172

+
3UTR-5UTRENST00000476366ENST00000360442FBLN1chr22

45946495

+PAK4chr19

39660172

+
3UTR-5UTRENST00000476366ENST00000435673FBLN1chr22

45946495

+PAK4chr19

39660172

+
3UTR-5UTRENST00000476366ENST00000593690FBLN1chr22

45946495

+PAK4chr19

39660172

+
3UTR-5UTRENST00000476366ENST00000599386FBLN1chr22

45946495

+PAK4chr19

39660172

+
3UTR-5UTRENST00000476366ENST00000599470FBLN1chr22

45946495

+PAK4chr19

39660172

+
3UTR-intronENST00000476366ENST00000597766FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000262722ENST00000321944FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000262722ENST00000358301FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000262722ENST00000360442FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000262722ENST00000435673FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000262722ENST00000593690FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000262722ENST00000599386FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000262722ENST00000599470FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000327858ENST00000321944FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000327858ENST00000358301FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000327858ENST00000360442FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000327858ENST00000435673FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000327858ENST00000593690FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000327858ENST00000599386FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000327858ENST00000599470FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000340923ENST00000321944FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000340923ENST00000358301FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000340923ENST00000360442FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000340923ENST00000435673FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000340923ENST00000593690FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000340923ENST00000599386FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000340923ENST00000599470FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000348697ENST00000321944FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000348697ENST00000358301FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000348697ENST00000360442FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000348697ENST00000435673FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000348697ENST00000593690FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000348697ENST00000599386FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000348697ENST00000599470FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000402984ENST00000321944FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000402984ENST00000358301FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000402984ENST00000360442FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000402984ENST00000435673FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000402984ENST00000593690FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000402984ENST00000599386FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000402984ENST00000599470FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000442170ENST00000321944FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000442170ENST00000358301FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000442170ENST00000360442FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000442170ENST00000435673FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000442170ENST00000593690FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000442170ENST00000599386FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-5UTRENST00000442170ENST00000599470FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-intronENST00000262722ENST00000597766FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-intronENST00000327858ENST00000597766FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-intronENST00000340923ENST00000597766FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-intronENST00000348697ENST00000597766FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-intronENST00000402984ENST00000597766FBLN1chr22

45946495

+PAK4chr19

39660172

+
5CDS-intronENST00000442170ENST00000597766FBLN1chr22

45946495

+PAK4chr19

39660172

+

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 FBLN1-PAK4


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)
FBLN1chr2245946495+PAK4chr1939660171+6.31E-101
FBLN1chr2245946495+PAK4chr1939660171+6.31E-101

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.

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 FBLN1-PAK4


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/:45946495/:39660172)
- 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
FBLN1

P23142

PAK4

C3orf54,FAM212A

FUNCTION: Incorporated into fibronectin-containing matrix fibers. May play a role in cell adhesion and migration along protein fibers within the extracellular matrix (ECM). Could be important for certain developmental processes and contribute to the supramolecular organization of ECM architecture, in particular to those of basement membranes. Has been implicated in a role in cellular transformation and tumor invasion, it appears to be a tumor suppressor. May play a role in haemostasis and thrombosis owing to its ability to bind fibrinogen and incorporate into clots. Could play a significant role in modulating the neurotrophic activities of APP, particularly soluble APP. {ECO:0000269|PubMed:11792823, ECO:0000269|PubMed:9393974, ECO:0000269|PubMed:9466671}.287

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


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Fusion Gene Sequence for FBLN1-PAK4


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 FBLN1-PAK4


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 FBLN1-PAK4


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 FBLN1-PAK4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource