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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:BST2-SLC27A1 (FusionGDB2 ID:HG684TG376497)

Fusion Gene Summary for BST2-SLC27A1

check button Fusion gene summary
Fusion gene informationFusion gene name: BST2-SLC27A1
Fusion gene ID: hg684tg376497
HgeneTgene
Gene symbol

BST2

SLC27A1

Gene ID

684

376497

Gene namebone marrow stromal cell antigen 2solute carrier family 27 member 1
SynonymsCD317|TETHERINACSVL5|FATP|FATP-1|FATP1
Cytomap('BST2')('SLC27A1')

19p13.11

19p13.11

Type of geneprotein-codingprotein-coding
Descriptionbone marrow stromal antigen 2BST-2HM1.24 antigenNPC-A-7long-chain fatty acid transport protein 1fatty acid transport protein 1solute carrier family 27 (fatty acid transporter), member 1
Modification date2020031520200327
UniProtAcc

Q10589

.
Ensembl transtripts involved in fusion geneENST00000252593, ENST00000527220, 
Fusion gene scores* DoF score7 X 4 X 3=845 X 5 X 4=100
# samples 75
** MAII scorelog2(7/84*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BST2 [Title/Abstract] AND SLC27A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBST2(17514489)-SLC27A1(17597372), # samples:2
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
HgeneBST2

GO:0002737

negative regulation of plasmacytoid dendritic cell cytokine production

19564354

HgeneBST2

GO:0009615

response to virus

19036818|20686043|20943977

HgeneBST2

GO:0030308

negative regulation of cell growth

22065321

HgeneBST2

GO:0030336

negative regulation of cell migration

22065321

HgeneBST2

GO:0045071

negative regulation of viral genome replication

20943977

HgeneBST2

GO:0045087

innate immune response

19036818

HgeneBST2

GO:0051607

defense response to virus

20399176

HgeneBST2

GO:1901253

negative regulation of intracellular transport of viral material

19036818|20686043|20943977



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-WE-A8K1-06ABST2chr19

17514489

-SLC27A1chr19

17594691

+
ChimerDB4SKCMTCGA-WE-A8K1-06ABST2chr19

17514489

-SLC27A1chr19

17597372

+


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Fusion Gene ORF analysis for BST2-SLC27A1

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-3CDSENST00000252593ENST00000252595BST2chr19

17514489

-SLC27A1chr19

17597372

+
3UTR-3CDSENST00000252593ENST00000442725BST2chr19

17514489

-SLC27A1chr19

17597372

+
3UTR-5UTRENST00000252593ENST00000598424BST2chr19

17514489

-SLC27A1chr19

17594691

+
3UTR-5UTRENST00000252593ENST00000598424BST2chr19

17514489

-SLC27A1chr19

17597372

+
3UTR-intronENST00000252593ENST00000252595BST2chr19

17514489

-SLC27A1chr19

17594691

+
3UTR-intronENST00000252593ENST00000442725BST2chr19

17514489

-SLC27A1chr19

17594691

+
3UTR-intronENST00000252593ENST00000598848BST2chr19

17514489

-SLC27A1chr19

17594691

+
3UTR-intronENST00000252593ENST00000598848BST2chr19

17514489

-SLC27A1chr19

17597372

+
intron-3CDSENST00000527220ENST00000252595BST2chr19

17514489

-SLC27A1chr19

17597372

+
intron-3CDSENST00000527220ENST00000442725BST2chr19

17514489

-SLC27A1chr19

17597372

+
intron-5UTRENST00000527220ENST00000598424BST2chr19

17514489

-SLC27A1chr19

17594691

+
intron-5UTRENST00000527220ENST00000598424BST2chr19

17514489

-SLC27A1chr19

17597372

+
intron-intronENST00000527220ENST00000252595BST2chr19

17514489

-SLC27A1chr19

17594691

+
intron-intronENST00000527220ENST00000442725BST2chr19

17514489

-SLC27A1chr19

17594691

+
intron-intronENST00000527220ENST00000598848BST2chr19

17514489

-SLC27A1chr19

17594691

+
intron-intronENST00000527220ENST00000598848BST2chr19

17514489

-SLC27A1chr19

17597372

+

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 BST2-SLC27A1


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)
BST2chr1917514488-SLC27A1chr1917597371+8.44E-060.99999154
BST2chr1917514488-SLC27A1chr1917594690+8.62E-070.99999917
BST2chr1917514488-SLC27A1chr1917597371+8.44E-060.99999154
BST2chr1917514488-SLC27A1chr1917594690+8.62E-070.99999917


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 BST2-SLC27A1


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/:17514489/:17597372)
- 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
BST2

Q10589

.
FUNCTION: IFN-induced antiviral host restriction factor which efficiently blocks the release of diverse mammalian enveloped viruses by directly tethering nascent virions to the membranes of infected cells. Acts as a direct physical tether, holding virions to the cell membrane and linking virions to each other. The tethered virions can be internalized by endocytosis and subsequently degraded or they can remain on the cell surface. In either case, their spread as cell-free virions is restricted (PubMed:22520941, PubMed:21529378, PubMed:20940320, PubMed:20419159, PubMed:20399176, PubMed:19879838, PubMed:19036818, PubMed:18342597, PubMed:18200009). Its target viruses belong to diverse families, including retroviridae: human immunodeficiency virus type 1 (HIV-1), human immunodeficiency virus type 2 (HIV-2), simian immunodeficiency viruses (SIVs), equine infectious anemia virus (EIAV), feline immunodeficiency virus (FIV), prototype foamy virus (PFV), Mason-Pfizer monkey virus (MPMV), human T-cell leukemia virus type 1 (HTLV-1), Rous sarcoma virus (RSV) and murine leukemia virus (MLV), flavivirideae: hepatitis C virus (HCV), filoviridae: ebola virus (EBOV) and marburg virus (MARV), arenaviridae: lassa virus (LASV) and machupo virus (MACV), herpesviridae: kaposis sarcoma-associated herpesvirus (KSHV), rhabdoviridae: vesicular stomatitis virus (VSV), orthomyxoviridae: influenza A virus, paramyxoviridae: nipah virus, and coronaviridae: SARS-CoV (PubMed:22520941, PubMed:21621240, PubMed:21529378, PubMed:20943977, PubMed:20686043, PubMed:20419159, PubMed:20399176, PubMed:19879838, PubMed:19179289, PubMed:18342597, PubMed:18200009, PubMed:26378163, PubMed:31199522). Can inhibit cell surface proteolytic activity of MMP14 causing decreased activation of MMP15 which results in inhibition of cell growth and migration (PubMed:22065321). Can stimulate signaling by LILRA4/ILT7 and consequently provide negative feedback to the production of IFN by plasmacytoid dendritic cells in response to viral infection (PubMed:19564354, PubMed:26172439). Plays a role in the organization of the subapical actin cytoskeleton in polarized epithelial cells. Isoform 1 and isoform 2 are both effective viral restriction factors but have differing antiviral and signaling activities (PubMed:23028328, PubMed:26172439). Isoform 2 is resistant to HIV-1 Vpu-mediated degradation and restricts HIV-1 viral budding in the presence of Vpu (PubMed:23028328, PubMed:26172439). Isoform 1 acts as an activator of NF-kappa-B and this activity is inhibited by isoform 2 (PubMed:23028328). {ECO:0000269|PubMed:18200009, ECO:0000269|PubMed:18342597, ECO:0000269|PubMed:19036818, ECO:0000269|PubMed:19179289, ECO:0000269|PubMed:19564354, ECO:0000269|PubMed:19879838, ECO:0000269|PubMed:20399176, ECO:0000269|PubMed:20419159, ECO:0000269|PubMed:20686043, ECO:0000269|PubMed:20940320, ECO:0000269|PubMed:20943977, ECO:0000269|PubMed:21529378, ECO:0000269|PubMed:21621240, ECO:0000269|PubMed:22065321, ECO:0000269|PubMed:22520941, ECO:0000269|PubMed:23028328, ECO:0000269|PubMed:26172439, ECO:0000269|PubMed:26378163, ECO:0000269|PubMed:31199522}.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 BST2-SLC27A1


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 BST2-SLC27A1


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 BST2-SLC27A1


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 BST2-SLC27A1


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