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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:RPS6KB1-TUBD1 (FusionGDB2 ID:77600)

Fusion Gene Summary for RPS6KB1-TUBD1

check button Fusion gene summary
Fusion gene informationFusion gene name: RPS6KB1-TUBD1
Fusion gene ID: 77600
HgeneTgene
Gene symbol

RPS6KB1

TUBD1

Gene ID

6198

51174

Gene nameribosomal protein S6 kinase B1tubulin delta 1
SynonymsPS6K|S6K|S6K-beta-1|S6K1|STK14A|p70 S6KA|p70(S6K)-alpha|p70-S6K|p70-alphaTUBD
Cytomap

17q23.1

17q23.1

Type of geneprotein-codingprotein-coding
Descriptionribosomal protein S6 kinase beta-1p70 S6 kinase, alpharibosomal protein S6 kinase Iribosomal protein S6 kinase, 70kDa, polypeptide 1serine/threonine kinase 14 alphaserine/threonine-protein kinase 14Atubulin delta chaindelta-tubulin
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000443572, ENST00000406116, 
ENST00000225577, ENST00000393021, 
ENST00000587061, 		ENST00000346141, 
ENST00000325752, ENST00000340993, 
ENST00000394239, ENST00000592426, 
ENST00000376094, ENST00000539018, 
ENST00000591611, 
Fusion gene scores* DoF score14 X 17 X 14=333210 X 6 X 6=360
# samples 4712
** MAII scorelog2(47/3332*10)=-2.82565573880055
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/360*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RPS6KB1 [Title/Abstract] AND TUBD1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTUBD1(57970058)-RPS6KB1(57987923), # samples:3
RPS6KB1(57970686)-TUBD1(57955695), # samples:2
Anticipated loss of major functional domain due to fusion event.RPS6KB1-TUBD1 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
RPS6KB1-TUBD1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
RPS6KB1-TUBD1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
RPS6KB1-TUBD1 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
HgeneRPS6KB1

GO:0031667

response to nutrient levels

29750193

HgeneRPS6KB1

GO:0031929

TOR signaling

12150926

HgeneRPS6KB1

GO:0071363

cellular response to growth factor stimulus

17936702


check buttonFusion gene breakpoints across RPS6KB1 (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 TUBD1 (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
ChimerDB4BRCATCGA-C8-A273-01ARPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
ChimerDB4BRCATCGA-C8-A273-01ARPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
ChimerDB4BRCATCGA-C8-A273-01ARPS6KB1chr17

57970686

-TUBD1chr17

57955695

-


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Fusion Gene ORF analysis for RPS6KB1-TUBD1

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-intronENST00000443572ENST00000346141RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-intronENST00000443572ENST00000325752RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-intronENST00000443572ENST00000340993RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-intronENST00000443572ENST00000394239RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-intronENST00000443572ENST00000592426RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-intronENST00000443572ENST00000376094RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-5UTRENST00000443572ENST00000539018RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-5UTRENST00000443572ENST00000591611RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-intronENST00000406116ENST00000346141RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-intronENST00000406116ENST00000325752RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-intronENST00000406116ENST00000340993RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-intronENST00000406116ENST00000394239RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-intronENST00000406116ENST00000592426RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-intronENST00000406116ENST00000376094RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-5UTRENST00000406116ENST00000539018RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-5UTRENST00000406116ENST00000591611RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-intronENST00000225577ENST00000346141RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-intronENST00000225577ENST00000325752RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-intronENST00000225577ENST00000340993RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-intronENST00000225577ENST00000394239RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-intronENST00000225577ENST00000592426RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-intronENST00000225577ENST00000376094RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-5UTRENST00000225577ENST00000539018RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5CDS-5UTRENST00000225577ENST00000591611RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5UTR-intronENST00000393021ENST00000346141RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5UTR-intronENST00000393021ENST00000325752RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5UTR-intronENST00000393021ENST00000340993RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5UTR-intronENST00000393021ENST00000394239RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5UTR-intronENST00000393021ENST00000592426RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5UTR-intronENST00000393021ENST00000376094RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5UTR-5UTRENST00000393021ENST00000539018RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
5UTR-5UTRENST00000393021ENST00000591611RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
intron-intronENST00000587061ENST00000346141RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
intron-intronENST00000587061ENST00000325752RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
intron-intronENST00000587061ENST00000340993RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
intron-intronENST00000587061ENST00000394239RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
intron-intronENST00000587061ENST00000592426RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
intron-intronENST00000587061ENST00000376094RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
intron-5UTRENST00000587061ENST00000539018RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
intron-5UTRENST00000587061ENST00000591611RPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
Frame-shiftENST00000443572ENST00000346141RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
Frame-shiftENST00000443572ENST00000325752RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
Frame-shiftENST00000443572ENST00000340993RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
Frame-shiftENST00000443572ENST00000394239RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
Frame-shiftENST00000443572ENST00000592426RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
5CDS-intronENST00000443572ENST00000376094RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
5CDS-intronENST00000443572ENST00000539018RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
5CDS-intronENST00000443572ENST00000591611RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
Frame-shiftENST00000406116ENST00000346141RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
Frame-shiftENST00000406116ENST00000325752RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
Frame-shiftENST00000406116ENST00000340993RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
Frame-shiftENST00000406116ENST00000394239RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
Frame-shiftENST00000406116ENST00000592426RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
5CDS-intronENST00000406116ENST00000376094RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
5CDS-intronENST00000406116ENST00000539018RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
5CDS-intronENST00000406116ENST00000591611RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
Frame-shiftENST00000225577ENST00000346141RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
Frame-shiftENST00000225577ENST00000325752RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
Frame-shiftENST00000225577ENST00000340993RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
Frame-shiftENST00000225577ENST00000394239RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
Frame-shiftENST00000225577ENST00000592426RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
5CDS-intronENST00000225577ENST00000376094RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
5CDS-intronENST00000225577ENST00000539018RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
5CDS-intronENST00000225577ENST00000591611RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
5UTR-3CDSENST00000393021ENST00000346141RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
5UTR-3CDSENST00000393021ENST00000325752RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
5UTR-3CDSENST00000393021ENST00000340993RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
5UTR-3CDSENST00000393021ENST00000394239RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
5UTR-3CDSENST00000393021ENST00000592426RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
5UTR-intronENST00000393021ENST00000376094RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
5UTR-intronENST00000393021ENST00000539018RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
5UTR-intronENST00000393021ENST00000591611RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
intron-3CDSENST00000587061ENST00000346141RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
intron-3CDSENST00000587061ENST00000325752RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
intron-3CDSENST00000587061ENST00000340993RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
intron-3CDSENST00000587061ENST00000394239RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
intron-3CDSENST00000587061ENST00000592426RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
intron-intronENST00000587061ENST00000376094RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
intron-intronENST00000587061ENST00000539018RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-
intron-intronENST00000587061ENST00000591611RPS6KB1chr17

57970686

+TUBD1chr17

57944110

-

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 RPS6KB1-TUBD1


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)

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 RPS6KB1-TUBD1


check button Go to

FGviewer for the breakpoints of :-:

.
- 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

- 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 RPS6KB1-TUBD1


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 RPS6KB1-TUBD1


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 RPS6KB1-TUBD1


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 RPS6KB1-TUBD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRPS6KB1C0020538Hypertensive disease1CTD_human
HgeneRPS6KB1C0079744Diffuse Large B-Cell Lymphoma1CTD_human
HgeneRPS6KB1C0149721Left Ventricular Hypertrophy1CTD_human
HgeneRPS6KB1C0333641Atrophic1CTD_human
HgeneRPS6KB1C2931673Ceroid lipofuscinosis, neuronal 1, infantile1CTD_human