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:DST-FBLN5 (FusionGDB2 ID:HG667TG10516)

Fusion Gene Summary for DST-FBLN5

check button Fusion gene summary
Fusion gene informationFusion gene name: DST-FBLN5
Fusion gene ID: hg667tg10516
HgeneTgene
Gene symbol

DST

FBLN5

Gene ID

667

10516

Gene namedystoninfibulin 5
SynonymsBP240|BPA|BPAG1|CATX-15|CATX15|D6S1101|DMH|DT|EBSB2|HSAN6|MACF2ADCL2|ARCL1A|ARMD3|DANCE|EVEC|FIBL-5|HNARMD|UP50
Cytomap('DST')('FBLN5')

6p12.1

14q32.12

Type of geneprotein-codingprotein-coding
Descriptiondystoninbullous pemphigoid antigen 1dystonia musculorum proteinhemidesmosomal plaque proteintrabeculin-betafibulin-5developmental arteries and neural crest EGF-like proteinembryonic vascular EGF-like repeat-containing proteintestis tissue sperm-binding protein Li 75nurine p50 protein
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000312431, ENST00000244364, 
ENST00000361203, ENST00000370754, 
ENST00000370769, ENST00000370788, 
ENST00000421834, ENST00000446842, 
ENST00000340834, ENST00000370765, 
ENST00000518935, 
Fusion gene scores* DoF score28 X 24 X 12=806411 X 8 X 7=616
# samples 2715
** MAII scorelog2(27/8064*10)=-4.90046432644909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/616*10)=-2.03796785019902
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DST [Title/Abstract] AND FBLN5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDST(56368795)-FBLN5(92403545), # samples:3
Anticipated loss of major functional domain due to fusion event.DST-FBLN5 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
DST-FBLN5 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneDST

GO:0009611

response to wounding

19403692

TgeneFBLN5

GO:0046903

secretion

20599547



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
ChimerDB4HNSCTCGA-CV-7248-01ADSTchr6

56368795

-FBLN5chr14

92403545

-
ChimerDB4HNSCTCGA-CV-7248DSTchr6

56368795

-FBLN5chr14

92403545

-


Top

Fusion Gene ORF analysis for DST-FBLN5

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-3CDSENST00000312431ENST00000267620DSTchr6

56368795

-FBLN5chr14

92403545

-
3UTR-3CDSENST00000312431ENST00000342058DSTchr6

56368795

-FBLN5chr14

92403545

-
3UTR-3CDSENST00000312431ENST00000556154DSTchr6

56368795

-FBLN5chr14

92403545

-
3UTR-intronENST00000312431ENST00000556961DSTchr6

56368795

-FBLN5chr14

92403545

-
5CDS-intronENST00000244364ENST00000556961DSTchr6

56368795

-FBLN5chr14

92403545

-
5CDS-intronENST00000361203ENST00000556961DSTchr6

56368795

-FBLN5chr14

92403545

-
5CDS-intronENST00000370754ENST00000556961DSTchr6

56368795

-FBLN5chr14

92403545

-
5CDS-intronENST00000370769ENST00000556961DSTchr6

56368795

-FBLN5chr14

92403545

-
5CDS-intronENST00000370788ENST00000556961DSTchr6

56368795

-FBLN5chr14

92403545

-
5CDS-intronENST00000421834ENST00000556961DSTchr6

56368795

-FBLN5chr14

92403545

-
5CDS-intronENST00000446842ENST00000556961DSTchr6

56368795

-FBLN5chr14

92403545

-
5UTR-3CDSENST00000340834ENST00000267620DSTchr6

56368795

-FBLN5chr14

92403545

-
5UTR-3CDSENST00000340834ENST00000342058DSTchr6

56368795

-FBLN5chr14

92403545

-
5UTR-3CDSENST00000340834ENST00000556154DSTchr6

56368795

-FBLN5chr14

92403545

-
5UTR-intronENST00000340834ENST00000556961DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000244364ENST00000267620DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000244364ENST00000342058DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000244364ENST00000556154DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000361203ENST00000267620DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000361203ENST00000342058DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000361203ENST00000556154DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000370754ENST00000267620DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000370754ENST00000342058DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000370754ENST00000556154DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000370769ENST00000267620DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000370769ENST00000342058DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000370769ENST00000556154DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000370788ENST00000267620DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000370788ENST00000342058DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000370788ENST00000556154DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000421834ENST00000267620DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000421834ENST00000342058DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000421834ENST00000556154DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000446842ENST00000267620DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000446842ENST00000342058DSTchr6

56368795

-FBLN5chr14

92403545

-
Frame-shiftENST00000446842ENST00000556154DSTchr6

56368795

-FBLN5chr14

92403545

-
intron-3CDSENST00000370765ENST00000267620DSTchr6

56368795

-FBLN5chr14

92403545

-
intron-3CDSENST00000370765ENST00000342058DSTchr6

56368795

-FBLN5chr14

92403545

-
intron-3CDSENST00000370765ENST00000556154DSTchr6

56368795

-FBLN5chr14

92403545

-
intron-3CDSENST00000518935ENST00000267620DSTchr6

56368795

-FBLN5chr14

92403545

-
intron-3CDSENST00000518935ENST00000342058DSTchr6

56368795

-FBLN5chr14

92403545

-
intron-3CDSENST00000518935ENST00000556154DSTchr6

56368795

-FBLN5chr14

92403545

-
intron-intronENST00000370765ENST00000556961DSTchr6

56368795

-FBLN5chr14

92403545

-
intron-intronENST00000518935ENST00000556961DSTchr6

56368795

-FBLN5chr14

92403545

-

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 DST-FBLN5


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)


Top

Fusion Protein Features for DST-FBLN5


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/:56368795/:92403545)
- 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 DST-FBLN5


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 DST-FBLN5


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 DST-FBLN5


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 DST-FBLN5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDSTC3809470EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 23GENOMICS_ENGLAND;ORPHANET
HgeneDSTC0079298Epidermolysis Bullosa Simplex2GENOMICS_ENGLAND
HgeneDSTC3539003NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0268351Cutis Laxa, Autosomal Recessive, Type I8CTD_human;ORPHANET;UNIPROT
TgeneC4225406NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION6UNIPROT
TgeneC0010495Cutis Laxa1GENOMICS_ENGLAND
TgeneC0013990Pathological accumulation of air in tissues1CTD_human
TgeneC0018801Heart failure1CTD_human
TgeneC0018802Congestive heart failure1CTD_human
TgeneC0020542Pulmonary Hypertension1CTD_human
TgeneC0023212Left-Sided Heart Failure1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0035222Respiratory Distress Syndrome, Adult1CTD_human
TgeneC0035229Respiratory Insufficiency1CTD_human
TgeneC0035243Respiratory Tract Infections1CTD_human
TgeneC0041912Upper Respiratory Infections1CTD_human
TgeneC0042373Vascular Diseases1CTD_human
TgeneC0235063Respiratory Depression1CTD_human
TgeneC0235527Heart Failure, Right-Sided1CTD_human
TgeneC0268350Cutis Laxa, Autosomal Dominant1CTD_human;ORPHANET
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0432336Cutis laxa, recessive, type I1ORPHANET
TgeneC1145670Respiratory Failure1CTD_human
TgeneC1959583Myocardial Failure1CTD_human
TgeneC1961112Heart Decompensation1CTD_human
TgeneC2931134Cutis laxa, recessive1CTD_human