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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:FUS-CREB3L1 (FusionGDB2 ID:HG2521TG90993)

Fusion Gene Summary for FUS-CREB3L1

check button Fusion gene summary
Fusion gene informationFusion gene name: FUS-CREB3L1
Fusion gene ID: hg2521tg90993
HgeneTgene
Gene symbol

FUS

CREB3L1

Gene ID

2521

90993

Gene nameFUS RNA binding proteincAMP responsive element binding protein 3 like 1
SynonymsALS6|ETM4|FUS1|HNRNPP2|POMP75|TLSOASIS|OI16
Cytomap('FUS')('CREB3L1')

16p11.2

11p11.2

Type of geneprotein-codingprotein-coding
DescriptionRNA-binding protein FUS75 kDa DNA-pairing proteinfus-like proteinfused in sarcomafusion gene in myxoid liposarcomaheterogeneous nuclear ribonucleoprotein P2oncogene FUSoncogene TLStranslocated in liposarcoma proteincyclic AMP-responsive element-binding protein 3-like protein 1BBF-2 homologcAMP-responsive element-binding protein 3-like protein 1old astrocyte specifically-induced substance
Modification date2020032920200327
UniProtAcc

P35637

.
Ensembl transtripts involved in fusion geneENST00000474990, ENST00000254108, 
ENST00000380244, ENST00000568685, 
Fusion gene scores* DoF score37 X 37 X 16=2190410 X 10 X 4=400
# samples 448
** MAII scorelog2(44/21904*10)=-5.63754701773324
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/400*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FUS [Title/Abstract] AND CREB3L1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint
Anticipated loss of major functional domain due to fusion event.FUS-CREB3L1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
FUS-CREB3L1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
FUS-CREB3L1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
FUS-CREB3L1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
FUS-CREB3L1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
FUS-CREB3L1 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
FUS-CREB3L1 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
HgeneFUS

GO:0006355

regulation of transcription, DNA-templated

26124092

HgeneFUS

GO:0006357

regulation of transcription by RNA polymerase II

25453086

HgeneFUS

GO:0008380

RNA splicing

26124092

HgeneFUS

GO:0043484

regulation of RNA splicing

25453086|27731383

HgeneFUS

GO:0048255

mRNA stabilization

27378374

HgeneFUS

GO:0051260

protein homooligomerization

25453086

HgeneFUS

GO:1905168

positive regulation of double-strand break repair via homologous recombination

10567410

TgeneCREB3L1

GO:0010629

negative regulation of gene expression

27121396

TgeneCREB3L1

GO:0032967

positive regulation of collagen biosynthetic process

25310401

TgeneCREB3L1

GO:0040037

negative regulation of fibroblast growth factor receptor signaling pathway

27121396

TgeneCREB3L1

GO:0045892

negative regulation of transcription, DNA-templated

27121396



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
ChimerKB3..FUSchr16

31196500

+CREB3L1chr11

46332582

+
ChimerKB3..FUSchr16

31200547

+CREB3L1chr11

46332582

+


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Fusion Gene ORF analysis for FUS-CREB3L1

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-3CDSENST00000474990ENST00000288400FUSchr16

31200547

+CREB3L1chr11

46332582

+
3UTR-3CDSENST00000474990ENST00000529193FUSchr16

31200547

+CREB3L1chr11

46332582

+
3UTR-intronENST00000474990ENST00000534616FUSchr16

31200547

+CREB3L1chr11

46332582

+
5CDS-intronENST00000254108ENST00000534616FUSchr16

31196500

+CREB3L1chr11

46332582

+
5CDS-intronENST00000254108ENST00000534616FUSchr16

31200547

+CREB3L1chr11

46332582

+
5CDS-intronENST00000380244ENST00000534616FUSchr16

31196500

+CREB3L1chr11

46332582

+
5CDS-intronENST00000380244ENST00000534616FUSchr16

31200547

+CREB3L1chr11

46332582

+
5CDS-intronENST00000568685ENST00000534616FUSchr16

31196500

+CREB3L1chr11

46332582

+
5CDS-intronENST00000568685ENST00000534616FUSchr16

31200547

+CREB3L1chr11

46332582

+
Frame-shiftENST00000254108ENST00000288400FUSchr16

31196500

+CREB3L1chr11

46332582

+
Frame-shiftENST00000254108ENST00000288400FUSchr16

31200547

+CREB3L1chr11

46332582

+
Frame-shiftENST00000254108ENST00000529193FUSchr16

31196500

+CREB3L1chr11

46332582

+
Frame-shiftENST00000254108ENST00000529193FUSchr16

31200547

+CREB3L1chr11

46332582

+
Frame-shiftENST00000380244ENST00000288400FUSchr16

31196500

+CREB3L1chr11

46332582

+
Frame-shiftENST00000380244ENST00000288400FUSchr16

31200547

+CREB3L1chr11

46332582

+
Frame-shiftENST00000380244ENST00000529193FUSchr16

31196500

+CREB3L1chr11

46332582

+
Frame-shiftENST00000380244ENST00000529193FUSchr16

31200547

+CREB3L1chr11

46332582

+
Frame-shiftENST00000568685ENST00000288400FUSchr16

31196500

+CREB3L1chr11

46332582

+
Frame-shiftENST00000568685ENST00000288400FUSchr16

31200547

+CREB3L1chr11

46332582

+
Frame-shiftENST00000568685ENST00000529193FUSchr16

31196500

+CREB3L1chr11

46332582

+
Frame-shiftENST00000568685ENST00000529193FUSchr16

31200547

+CREB3L1chr11

46332582

+
intron-3CDSENST00000474990ENST00000288400FUSchr16

31196500

+CREB3L1chr11

46332582

+
intron-3CDSENST00000474990ENST00000529193FUSchr16

31196500

+CREB3L1chr11

46332582

+
intron-intronENST00000474990ENST00000534616FUSchr16

31196500

+CREB3L1chr11

46332582

+

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 FUS-CREB3L1


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 FUS-CREB3L1


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/:/:)
- 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
FUS

P35637

.
FUNCTION: DNA/RNA-binding protein that plays a role in various cellular processes such as transcription regulation, RNA splicing, RNA transport, DNA repair and damage response (PubMed:27731383). Binds to nascent pre-mRNAs and acts as a molecular mediator between RNA polymerase II and U1 small nuclear ribonucleoprotein thereby coupling transcription and splicing (PubMed:26124092). Binds also its own pre-mRNA and autoregulates its expression; this autoregulation mechanism is mediated by non-sense-mediated decay (PubMed:24204307). Plays a role in DNA repair mechanisms by promoting D-loop formation and homologous recombination during DNA double-strand break repair (PubMed:10567410). In neuronal cells, plays crucial roles in dendritic spine formation and stability, RNA transport, mRNA stability and synaptic homeostasis (By similarity). {ECO:0000250|UniProtKB:P56959, ECO:0000269|PubMed:10567410, ECO:0000269|PubMed:24204307, ECO:0000269|PubMed:26124092, ECO:0000269|PubMed:27731383}.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 FUS-CREB3L1


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 FUS-CREB3L1


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 FUS-CREB3L1


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 FUS-CREB3L1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFUSC1842675AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)5UNIPROT
HgeneFUSC3468114Juvenile amyotrophic lateral sclerosis5ORPHANET
HgeneFUSC0002736Amyotrophic Lateral Sclerosis2CTD_human;ORPHANET
HgeneFUSC0206634Liposarcoma, Myxoid2CTD_human;ORPHANET
HgeneFUSC0393554Amyotrophic Lateral Sclerosis With Dementia1CTD_human
HgeneFUSC0497327Dementia1GENOMICS_ENGLAND
HgeneFUSC0543859Amyotrophic Lateral Sclerosis, Guam Form1CTD_human
HgeneFUSC3539195TREMOR, HEREDITARY ESSENTIAL, 41CTD_human;UNIPROT
HgeneFUSC3888102Frontotemporal Dementia With Motor Neuron Disease1ORPHANET
TgeneC0268362Osteogenesis imperfecta type III (disorder)1ORPHANET
TgeneC4015610OSTEOGENESIS IMPERFECTA, TYPE XVI1GENOMICS_ENGLAND