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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:FBN1-SULF1 (FusionGDB2 ID:HG2200TG23213)

Fusion Gene Summary for FBN1-SULF1

check button Fusion gene summary
Fusion gene informationFusion gene name: FBN1-SULF1
Fusion gene ID: hg2200tg23213
HgeneTgene
Gene symbol

FBN1

SULF1

Gene ID

2200

23213

Gene namefibrillin 1sulfatase 1
SynonymsACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2SULF-1
Cytomap('FBN1')('SULF1')

15q21.1

8q13.2-q13.3

Type of geneprotein-codingprotein-coding
Descriptionfibrillin-1asprosinepididymis secretory sperm binding proteinfibrillin 15fibrillin-1 preproproteinextracellular sulfatase Sulf-1sulfatase FP
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000316623, ENST00000560355, 
ENST00000561429, 
Fusion gene scores* DoF score15 X 17 X 7=17858 X 9 X 4=288
# samples 179
** MAII scorelog2(17/1785*10)=-3.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/288*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FBN1 [Title/Abstract] AND SULF1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFBN1(48788357)-SULF1(70570846), # 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
HgeneFBN1

GO:0033627

cell adhesion mediated by integrin

12807887|17158881

HgeneFBN1

GO:0045671

negative regulation of osteoclast differentiation

24039232

HgeneFBN1

GO:2001205

negative regulation of osteoclast development

24039232

TgeneSULF1

GO:0001937

negative regulation of endothelial cell proliferation

16778174

TgeneSULF1

GO:0016525

negative regulation of angiogenesis

16778174

TgeneSULF1

GO:0030177

positive regulation of Wnt signaling pathway

19520866

TgeneSULF1

GO:0030201

heparan sulfate proteoglycan metabolic process

18687675|19666466|19822709

TgeneSULF1

GO:0048010

vascular endothelial growth factor receptor signaling pathway

16778174



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


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Fusion Gene ORF analysis for FBN1-SULF1

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

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 FBN1-SULF1


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)


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Fusion Protein Features for FBN1-SULF1


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/:48788357/:70570846)
- 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


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Fusion Gene Sequence for FBN1-SULF1


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 FBN1-SULF1


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 FBN1-SULF1


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 FBN1-SULF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFBN1C0024796Marfan Syndrome60CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFBN1C4310796MARFAN LIPODYSTROPHY SYNDROME12CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFBN1C3541518ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT9CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFBN1C4721845Marfan Syndrome, Type I7CTD_human;ORPHANET
HgeneFBN1C4707243Familial thoracic aortic aneurysm and aortic dissection6CLINGEN;GENOMICS_ENGLAND
HgeneFBN1C1321551Shprintzen-Goldberg syndrome5GENOMICS_ENGLAND;ORPHANET
HgeneFBN1C1858556OVERLAP CONNECTIVE TISSUE DISEASE5CTD_human;GENOMICS_ENGLAND
HgeneFBN1C1869115Weill-Marchesani Syndrome, Autosomal Dominant5CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneFBN1C0265287Acromicric Dysplasia3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFBN1C1861456Stiff Skin Syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFBN1C3280054GELEOPHYSIC DYSPLASIA 23GENOMICS_ENGLAND;UNIPROT
HgeneFBN1C0003496Aortic Rupture1CTD_human
HgeneFBN1C0003706Arachnodactyly1CTD_human
HgeneFBN1C0013581Ectopia Lentis1CTD_human;ORPHANET
HgeneFBN1C0014175Endometriosis1CTD_human
HgeneFBN1C0020456Hyperglycemia1CTD_human
HgeneFBN1C0020459Hyperinsulinism1CTD_human
HgeneFBN1C0023890Liver Cirrhosis1CTD_human
HgeneFBN1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneFBN1C0162872Aortic Aneurysm, Thoracic1CTD_human
HgeneFBN1C0239946Fibrosis, Liver1CTD_human
HgeneFBN1C0269102Endometrioma1CTD_human
HgeneFBN1C0340630Aortic Aneurysm, Thoracoabdominal1CTD_human
HgeneFBN1C0741160Aortic Aneurysm, Ruptured1CTD_human
HgeneFBN1C1257963Endogenous Hyperinsulinism1CTD_human
HgeneFBN1C1257964Exogenous Hyperinsulinism1CTD_human
HgeneFBN1C1257965Compensatory Hyperinsulinemia1CTD_human
HgeneFBN1C1855520Hyperglycemia, Postprandial1CTD_human
HgeneFBN1C3489726Geleophysic dysplasia1CTD_human;ORPHANET
HgeneFBN1C4016054Neonatal Marfan syndrome1ORPHANET
TgeneC0032927Precancerous Conditions1CTD_human
TgeneC0282313Condition, Preneoplastic1CTD_human
TgeneC0919267ovarian neoplasm1CTD_human
TgeneC1140680Malignant neoplasm of ovary1CTD_human
TgeneC1838162Mesomelia-synostoses syndrome1GENOMICS_ENGLAND