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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 32157

FusionGeneSummary for RPS6KB1_TUBD1

check button Fusion gene summary
Fusion gene informationFusion gene name: RPS6KB1_TUBD1
Fusion gene ID: 32157
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 date2018052320180523
UniProtAcc

P23443

Q9UJT1

Ensembl transtripts involved in fusion geneENST00000443572, ENST00000406116, 
ENST00000225577, ENST00000393021, 
ENST00000587061, 
ENST00000346141, 
ENST00000325752, ENST00000340993, 
ENST00000394239, ENST00000592426, 
ENST00000376094, ENST00000539018, 
ENST00000591611, 
Fusion gene scores* DoF score8 X 5 X 4=1607 X 5 X 3=105
# samples 87
** MAII scorelog2(8/160*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/105*10)=-0.584962500721156
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]

Functional or gene categories assigned by FusionGDB annotation
* 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:0031929

TOR signaling

12150926

HgeneRPS6KB1

GO:0071363

cellular response to growth factor stimulus

17936702


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBRCATCGA-C8-A273-01ARPS6KB1chr17

57970686

+TUBD1chr17

57955695

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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

-

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FusionProtFeatures for RPS6KB1_TUBD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RPS6KB1

P23443

TUBD1

Q9UJT1

Serine/threonine-protein kinase that acts downstream ofmTOR signaling in response to growth factors and nutrients topromote cell proliferation, cell growth and cell cycleprogression. Regulates protein synthesis through phosphorylationof EIF4B, RPS6 and EEF2K, and contributes to cell survival byrepressing the pro-apoptotic function of BAD. Under conditions ofnutrient depletion, the inactive form associates with the EIF3translation initiation complex. Upon mitogenic stimulation,phosphorylation by the mammalian target of rapamycin complex 1(mTORC1) leads to dissociation from the EIF3 complex andactivation. The active form then phosphorylates and activatesseveral substrates in the pre-initiation complex, including theEIF2B complex and the cap-binding complex component EIF4B. Alsocontrols translation initiation by phosphorylating a negativeregulator of EIF4A, PDCD4, targeting it for ubiquitination andsubsequent proteolysis. Promotes initiation of the pioneer roundof protein synthesis by phosphorylating POLDIP3/SKAR. In responseto IGF1, activates translation elongation by phosphorylating EEF2kinase (EEF2K), which leads to its inhibition and thus activationof EEF2. Also plays a role in feedback regulation of mTORC2 bymTORC1 by phosphorylating RICTOR, resulting in the inhibition ofmTORC2 and AKT1 signaling. Mediates cell survival byphosphorylating the pro-apoptotic protein BAD and suppressing itspro-apoptotic function. Phosphorylates mitochondrial URI1 leadingto dissociation of a URI1-PPP1CC complex. The free mitochondrialPPP1CC can then dephosphorylate RPS6KB1 at Thr-412, which isproposed to be a negative feedback mechanism for the RPS6KB1 anti-apoptotic function. Mediates TNF-alpha-induced insulin resistanceby phosphorylating IRS1 at multiple serine residues, resulting inaccelerated degradation of IRS1. In cells lacking functional TSC1-2 complex, constitutively phosphorylates and inhibits GSK3B. Maybe involved in cytoskeletal rearrangement through binding toneurabin. Phosphorylates and activates the pyrimidine biosynthesisenzyme CAD, downstream of MTOR (PubMed:11500364, PubMed:12801526,PubMed:14673156, PubMed:15071500, PubMed:15341740,PubMed:16286006, PubMed:17052453, PubMed:17053147,PubMed:17936702, PubMed:18952604, PubMed:19085255,PubMed:19720745, PubMed:19935711, PubMed:19995915,PubMed:23429703). Following activation by mTORC1, phosphorylatesEPRS and thereby plays a key role in fatty acid uptake byadipocytes and also most probably in interferon-gamma-inducedtranslation inhibition (PubMed:28178239).{ECO:0000269|PubMed:11500364, ECO:0000269|PubMed:12801526,ECO:0000269|PubMed:14673156, ECO:0000269|PubMed:15071500,ECO:0000269|PubMed:15341740, ECO:0000269|PubMed:16286006,ECO:0000269|PubMed:17052453, ECO:0000269|PubMed:17053147,ECO:0000269|PubMed:17936702, ECO:0000269|PubMed:18952604,ECO:0000269|PubMed:19085255, ECO:0000269|PubMed:19720745,ECO:0000269|PubMed:19935711, ECO:0000269|PubMed:19995915,ECO:0000269|PubMed:23429703, ECO:0000269|PubMed:28178239}.

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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FusionGeneSequence for RPS6KB1_TUBD1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
RPS6KB1TRAF4, AKT1, CSNK2B, MTOR, GDI2P1, PPP2R2A, ACTA1, BTK, CSNK2A1, LYN, PDK1, PRKCZ, SRC, SYK, EIF3B, EIF3C, RPTOR, COASY, POLDIP3, RICTOR, TERT, XPO1, EIF3F, EEF2K, RBX1, MDM2, EP300, KAT2B, NEDD4, DPPA4, CLEC3B, MXD1, ELAVL1, NFATC1, EIF3H, SQSTM1, MAPKAP1, RPS6, PLD2, IRS1, APP, MAPT, HSP90AA1, URI1, STAT1, KIR3DL1, MAPK8, TRIB2, HTT, NCBP1, EIF4E, RHEB, NR1I2, RPS6KB1, PPP5C, STK11, DEPTOR, PIP4K2A, KIT, RRM2, VHL, ABL1, UBL4A, TRIM25TUBD1SOCS6, TOP1, FGL1, TUBE1, CCT3, CCT7


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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RelatedDrugs for RPS6KB1_TUBD1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneTUBD1Q9UJT1DB00570VinblastineTubulin delta chainsmall moleculeapproved

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RelatedDiseases 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