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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-CUL4A (FusionGDB2 ID:HG2521TG8451)

Fusion Gene Summary for FUS-CUL4A

check button Fusion gene summary
Fusion gene informationFusion gene name: FUS-CUL4A
Fusion gene ID: hg2521tg8451
HgeneTgene
Gene symbol

FUS

CUL4A

Gene ID

2521

8451

Gene nameFUS RNA binding proteincullin 4A
SynonymsALS6|ETM4|FUS1|HNRNPP2|POMP75|TLS-
Cytomap('FUS')('CUL4A')

16p11.2

13q34

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 proteincullin-4ACUL-4A
Modification date2020032920200327
UniProtAcc

P35637

Q13619

Ensembl transtripts involved in fusion geneENST00000254108, ENST00000380244, 
ENST00000568685, ENST00000474990, 
Fusion gene scores* DoF score37 X 37 X 16=2190415 X 13 X 9=1755
# samples 4420
** MAII scorelog2(44/21904*10)=-5.63754701773324
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(20/1755*10)=-3.1333991254172
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FUS [Title/Abstract] AND CUL4A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFUS(31196500)-CUL4A(113873259), # 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
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

TgeneCUL4A

GO:0016567

protein ubiquitination

26431207



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
ChimerDB4STADTCGA-HU-A4GJ-01AFUSchr16

31196500

+CUL4Achr13

113873259

+


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Fusion Gene ORF analysis for FUS-CUL4A

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
5CDS-3UTRENST00000254108ENST00000463426FUSchr16

31196500

+CUL4Achr13

113873259

+
5CDS-3UTRENST00000380244ENST00000463426FUSchr16

31196500

+CUL4Achr13

113873259

+
5CDS-3UTRENST00000568685ENST00000463426FUSchr16

31196500

+CUL4Achr13

113873259

+
5CDS-5UTRENST00000254108ENST00000326335FUSchr16

31196500

+CUL4Achr13

113873259

+
5CDS-5UTRENST00000254108ENST00000375440FUSchr16

31196500

+CUL4Achr13

113873259

+
5CDS-5UTRENST00000254108ENST00000375441FUSchr16

31196500

+CUL4Achr13

113873259

+
5CDS-5UTRENST00000254108ENST00000451881FUSchr16

31196500

+CUL4Achr13

113873259

+
5CDS-5UTRENST00000380244ENST00000326335FUSchr16

31196500

+CUL4Achr13

113873259

+
5CDS-5UTRENST00000380244ENST00000375440FUSchr16

31196500

+CUL4Achr13

113873259

+
5CDS-5UTRENST00000380244ENST00000375441FUSchr16

31196500

+CUL4Achr13

113873259

+
5CDS-5UTRENST00000380244ENST00000451881FUSchr16

31196500

+CUL4Achr13

113873259

+
5CDS-5UTRENST00000568685ENST00000326335FUSchr16

31196500

+CUL4Achr13

113873259

+
5CDS-5UTRENST00000568685ENST00000375440FUSchr16

31196500

+CUL4Achr13

113873259

+
5CDS-5UTRENST00000568685ENST00000375441FUSchr16

31196500

+CUL4Achr13

113873259

+
5CDS-5UTRENST00000568685ENST00000451881FUSchr16

31196500

+CUL4Achr13

113873259

+
intron-3UTRENST00000474990ENST00000463426FUSchr16

31196500

+CUL4Achr13

113873259

+
intron-5UTRENST00000474990ENST00000326335FUSchr16

31196500

+CUL4Achr13

113873259

+
intron-5UTRENST00000474990ENST00000375440FUSchr16

31196500

+CUL4Achr13

113873259

+
intron-5UTRENST00000474990ENST00000375441FUSchr16

31196500

+CUL4Achr13

113873259

+
intron-5UTRENST00000474990ENST00000451881FUSchr16

31196500

+CUL4Achr13

113873259

+

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-CUL4A


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)
FUSchr1631196500+CUL4Achr13113873258+4.76E-141
FUSchr1631196500+CUL4Achr13113873258+4.76E-141


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 FUS-CUL4A


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/:31196500/:113873259)
- 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

CUL4A

Q13619

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: Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition component. DCX(DET1-COP1) directs ubiquitination of JUN. DCX(DDB2) directs ubiquitination of XPC. DCX(DDB2) ubiquitinates histones H3-H4 and is required for efficient histone deposition during replication-coupled (H3.1) and replication-independent (H3.3) nucleosome assembly, probably by facilitating the transfer of H3 from ASF1A/ASF1B to other chaperones involved in histone deposition. DCX(DTL) plays a role in PCNA-dependent polyubiquitination of CDT1 and MDM2-dependent ubiquitination of TP53 in response to radiation-induced DNA damage and during DNA replication. In association with DDB1 and SKP2 probably is involved in ubiquitination of CDKN1B/p27kip. Is involved in ubiquitination of HOXA9. DCX(DTL) directs autoubiquitination of DTL. The DDB1-CUL4A-DTL E3 ligase complex regulates the circadian clock function by mediating the ubiquitination and degradation of CRY1 (PubMed:26431207). With CUL4B, contributes to ribosome biogenesis (PubMed:26711351). {ECO:0000269|PubMed:14578910, ECO:0000269|PubMed:14609952, ECO:0000269|PubMed:15448697, ECO:0000269|PubMed:15548678, ECO:0000269|PubMed:16537899, ECO:0000269|PubMed:16678110, ECO:0000269|PubMed:23478445, ECO:0000269|PubMed:24209620, ECO:0000269|PubMed:26431207, ECO:0000269|PubMed:26711351}.

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-CUL4A


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-CUL4A


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-CUL4A


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-CUL4A


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
TgeneC0004238Atrial Fibrillation2CTD_human
TgeneC0235480Paroxysmal atrial fibrillation2CTD_human
TgeneC2585653Persistent atrial fibrillation2CTD_human
TgeneC3468561familial atrial fibrillation2CTD_human
TgeneC0014518Toxic Epidermal Necrolysis1CTD_human
TgeneC0038325Stevens-Johnson Syndrome1CTD_human
TgeneC1274933Drug-Induced Stevens Johnson Syndrome1CTD_human
TgeneC3658301Mycoplasma-Induced Stevens-Johnson Syndrome1CTD_human
TgeneC3658302Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum1CTD_human