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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:RBCK1-TRIB3 (FusionGDB2 ID:72176)

Fusion Gene Summary for RBCK1-TRIB3

check button Fusion gene summary
Fusion gene informationFusion gene name: RBCK1-TRIB3
Fusion gene ID: 72176
HgeneTgene
Gene symbol

RBCK1

TRIB3

Gene ID

10616

57761

Gene nameRANBP2-type and C3HC4-type zinc finger containing 1tribbles pseudokinase 3
SynonymsC20orf18|HOIL-1|HOIL1|PBMEI|PGBM1|RBCK2|RNF54|UBCE7IP3|XAP3|XAP4|ZRANB4C20orf97|NIPK|SINK|SKIP3|TRB3
Cytomap

20p13

20p13

Type of geneprotein-codingprotein-coding
DescriptionranBP-type and C3HC4-type zinc finger-containing protein 1HBV-associated factor 4RBCC protein interacting with PKC1RING finger protein 54RING-type E3 ubiquitin transferase HOIL-1heme-oxidized IRP2 ubiquitin ligase 1hepatitis B virus X-associated protribbles homolog 3TRB-3neuronal cell death inducible putative kinasep65-interacting inhibitor of NF-kappa-Bp65-interacting inhibitor of NF-kappaB
Modification date2020032720200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000356286, ENST00000353660, 
ENST00000382181, ENST00000475269, 
ENST00000400245, ENST00000400247, 
ENST00000217233, ENST00000485293, 
ENST00000422053, 
Fusion gene scores* DoF score9 X 5 X 6=2702 X 1 X 2=4
# samples 82
** MAII scorelog2(8/270*10)=-1.75488750216347
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/4*10)=2.32192809488736
Context

PubMed: RBCK1 [Title/Abstract] AND TRIB3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRBCK1(398574)-TRIB3(368655), # samples:3
Anticipated loss of major functional domain due to fusion event.RBCK1-TRIB3 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
RBCK1-TRIB3 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
RBCK1-TRIB3 seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF.
RBCK1-TRIB3 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
RBCK1-TRIB3 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneRBCK1

GO:0000209

protein polyubiquitination

12629548|17006537

HgeneRBCK1

GO:0032088

negative regulation of NF-kappaB transcription factor activity

17449468

HgeneRBCK1

GO:0043123

positive regulation of I-kappaB kinase/NF-kappaB signaling

19136968|21455173

HgeneRBCK1

GO:0050852

T cell receptor signaling pathway

20005846

HgeneRBCK1

GO:0051092

positive regulation of NF-kappaB transcription factor activity

19136968

HgeneRBCK1

GO:0097039

protein linear polyubiquitination

21455173|21455180|21455181|23453807

TgeneTRIB3

GO:0000122

negative regulation of transcription by RNA polymerase II

15775988

TgeneTRIB3

GO:0006469

negative regulation of protein kinase activity

12791994

TgeneTRIB3

GO:0034976

response to endoplasmic reticulum stress

15775988

TgeneTRIB3

GO:0043405

regulation of MAP kinase activity

15299019

TgeneTRIB3

GO:0070059

intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress

15775988


check buttonFusion gene breakpoints across RBCK1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across TRIB3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4LIHCTCGA-RC-A7SK-01ARBCK1chr20

398574

+TRIB3chr20

368655

+
ChimerDB4LIHCTCGA-RC-A7SK-01ARBCK1chr20

398574

+TRIB3chr20

368655

+
ChimerDB4LIHCTCGA-RC-A7SK-01ARBCK1chr20

398574

-TRIB3chr20

368655

+


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Fusion Gene ORF analysis for RBCK1-TRIB3

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
Frame-shiftENST00000356286ENST00000217233RBCK1chr20

398574

+TRIB3chr20

368655

+
5CDS-3UTRENST00000356286ENST00000485293RBCK1chr20

398574

+TRIB3chr20

368655

+
5CDS-3UTRENST00000356286ENST00000422053RBCK1chr20

398574

+TRIB3chr20

368655

+
Frame-shiftENST00000353660ENST00000217233RBCK1chr20

398574

+TRIB3chr20

368655

+
5CDS-3UTRENST00000353660ENST00000485293RBCK1chr20

398574

+TRIB3chr20

368655

+
5CDS-3UTRENST00000353660ENST00000422053RBCK1chr20

398574

+TRIB3chr20

368655

+
In-frameENST00000382181ENST00000217233RBCK1chr20

398574

+TRIB3chr20

368655

+
5CDS-3UTRENST00000382181ENST00000485293RBCK1chr20

398574

+TRIB3chr20

368655

+
5CDS-3UTRENST00000382181ENST00000422053RBCK1chr20

398574

+TRIB3chr20

368655

+
intron-3CDSENST00000475269ENST00000217233RBCK1chr20

398574

+TRIB3chr20

368655

+
intron-3UTRENST00000475269ENST00000485293RBCK1chr20

398574

+TRIB3chr20

368655

+
intron-3UTRENST00000475269ENST00000422053RBCK1chr20

398574

+TRIB3chr20

368655

+
intron-3CDSENST00000400245ENST00000217233RBCK1chr20

398574

+TRIB3chr20

368655

+
intron-3UTRENST00000400245ENST00000485293RBCK1chr20

398574

+TRIB3chr20

368655

+
intron-3UTRENST00000400245ENST00000422053RBCK1chr20

398574

+TRIB3chr20

368655

+
intron-3CDSENST00000400247ENST00000217233RBCK1chr20

398574

+TRIB3chr20

368655

+
intron-3UTRENST00000400247ENST00000485293RBCK1chr20

398574

+TRIB3chr20

368655

+
intron-3UTRENST00000400247ENST00000422053RBCK1chr20

398574

+TRIB3chr20

368655

+

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 RBCK1-TRIB3


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)
RBCK1chr20398574+TRIB3chr20368654+2.27E-121
RBCK1chr20398574+TRIB3chr20368654+2.27E-121

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

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.

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Fusion Protein Features for RBCK1-TRIB3


check button Go to

FGviewer for the breakpoints of chr20:398574-chr20:368655

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
HgeneRBCK1chr20:398574chr20:368655ENST00000356286+41255_119153.33333333333334511.0DomainUbiquitin-like
TgeneTRIB3chr20:398574chr20:368655ENST000002172330468_3160.0359.0DomainProtein kinase

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRBCK1chr20:398574chr20:368655ENST00000353660+311233_261111.33333333333333469.0Coiled coilOntology_term=ECO:0000255
HgeneRBCK1chr20:398574chr20:368655ENST00000356286+412233_261153.33333333333334511.0Coiled coilOntology_term=ECO:0000255
HgeneRBCK1chr20:398574chr20:368655ENST00000353660+31155_119111.33333333333333469.0DomainUbiquitin-like
HgeneRBCK1chr20:398574chr20:368655ENST00000353660+311278_506111.33333333333333469.0RegionTRIAD supradomain
HgeneRBCK1chr20:398574chr20:368655ENST00000356286+412278_506153.33333333333334511.0RegionTRIAD supradomain
HgeneRBCK1chr20:398574chr20:368655ENST00000353660+311193_222111.33333333333333469.0Zinc fingerRanBP2-type
HgeneRBCK1chr20:398574chr20:368655ENST00000353660+311282_332111.33333333333333469.0Zinc fingerRING-type 1
HgeneRBCK1chr20:398574chr20:368655ENST00000353660+311351_411111.33333333333333469.0Zinc fingerIBR-type
HgeneRBCK1chr20:398574chr20:368655ENST00000353660+311447_476111.33333333333333469.0Zinc fingerRING-type 2%3B atypical
HgeneRBCK1chr20:398574chr20:368655ENST00000356286+412193_222153.33333333333334511.0Zinc fingerRanBP2-type
HgeneRBCK1chr20:398574chr20:368655ENST00000356286+412282_332153.33333333333334511.0Zinc fingerRING-type 1
HgeneRBCK1chr20:398574chr20:368655ENST00000356286+412351_411153.33333333333334511.0Zinc fingerIBR-type
HgeneRBCK1chr20:398574chr20:368655ENST00000356286+412447_476153.33333333333334511.0Zinc fingerRING-type 2%3B atypical


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Fusion Gene Sequence for RBCK1-TRIB3


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 RBCK1-TRIB3


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
HgeneRBCK1chr20:398574chr20:368655ENST00000356286+41269_131153.33333333333334511.0RNF31
TgeneTRIB3chr20:398574chr20:368655ENST00000217233041_1270.0359.0DDIT3/CHOP


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneRBCK1chr20:398574chr20:368655ENST00000353660+3111_220111.33333333333333469.0IRF3
HgeneRBCK1chr20:398574chr20:368655ENST00000356286+4121_220153.33333333333334511.0IRF3
HgeneRBCK1chr20:398574chr20:368655ENST00000353660+31169_131111.33333333333333469.0RNF31
HgeneRBCK1chr20:398574chr20:368655ENST00000353660+3111_270111.33333333333333469.0TAB2
HgeneRBCK1chr20:398574chr20:368655ENST00000356286+4121_270153.33333333333334511.0TAB2


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 RBCK1-TRIB3


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 RBCK1-TRIB3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRBCK1C4014605POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY5GENOMICS_ENGLAND;UNIPROT
HgeneRBCK1C4751567Polyglucosan body myopathy type 12ORPHANET
HgeneRBCK1C0018800Cardiomegaly1CTD_human
HgeneRBCK1C1383860Cardiac Hypertrophy1CTD_human
TgeneTRIB3C0021655Insulin Resistance1CTD_human
TgeneTRIB3C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneTRIB3C0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgeneTRIB3C0524620Metabolic Syndrome X1CTD_human
TgeneTRIB3C0920563Insulin Sensitivity1CTD_human
TgeneTRIB3C3241937Nonalcoholic Steatohepatitis1CTD_human