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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-HTR2C (FusionGDB2 ID:HG6198TG3358)

Fusion Gene Summary for RPS6KB1-HTR2C

check button Fusion gene summary
Fusion gene informationFusion gene name: RPS6KB1-HTR2C
Fusion gene ID: hg6198tg3358
HgeneTgene
Gene symbol

RPS6KB1

HTR2C

Gene ID

6198

3358

Gene nameribosomal protein S6 kinase B15-hydroxytryptamine receptor 2C
SynonymsPS6K|S6K|S6K-beta-1|S6K1|STK14A|p70 S6KA|p70(S6K)-alpha|p70-S6K|p70-alpha5-HT1C|5-HT2C|5-HTR2C|5HTR2C|HTR1C
Cytomap('RPS6KB1')('HTR2C')

17q23.1

Xq23

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 14A5-hydroxytryptamine receptor 2C5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled5-hydroxytryptamine receptor 1Cserotonin 5-HT-1C receptorserotonin 5-HT-2C receptor
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000225577, ENST00000393021, 
ENST00000406116, ENST00000443572, 
ENST00000587061, 
Fusion gene scores* DoF score14 X 17 X 14=33323 X 4 X 2=24
# samples 474
** MAII scorelog2(47/3332*10)=-2.82565573880055
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RPS6KB1 [Title/Abstract] AND HTR2C [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRPS6KB1(57990167)-HTR2C(113934208), # 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
HgeneRPS6KB1

GO:0031667

response to nutrient levels

29750193

HgeneRPS6KB1

GO:0031929

TOR signaling

12150926

HgeneRPS6KB1

GO:0071363

cellular response to growth factor stimulus

17936702

TgeneHTR2C

GO:0006874

cellular calcium ion homeostasis

19057895

TgeneHTR2C

GO:0007200

phospholipase C-activating G protein-coupled receptor signaling pathway

12970106

TgeneHTR2C

GO:0010513

positive regulation of phosphatidylinositol biosynthetic process

19057895

TgeneHTR2C

GO:0019934

cGMP-mediated signaling

12970106

TgeneHTR2C

GO:0042493

response to drug

18703043

TgeneHTR2C

GO:0070374

positive regulation of ERK1 and ERK2 cascade

19057895



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
ChiTaRS5.0N/AAA362032RPS6KB1chr17

57990167

+HTR2CchrX

113934208

-


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Fusion Gene ORF analysis for RPS6KB1-HTR2C

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-intronENST00000225577ENST00000276198RPS6KB1chr17

57990167

+HTR2CchrX

113934208

-
5CDS-intronENST00000225577ENST00000371950RPS6KB1chr17

57990167

+HTR2CchrX

113934208

-
5CDS-intronENST00000225577ENST00000371951RPS6KB1chr17

57990167

+HTR2CchrX

113934208

-
5CDS-intronENST00000393021ENST00000276198RPS6KB1chr17

57990167

+HTR2CchrX

113934208

-
5CDS-intronENST00000393021ENST00000371950RPS6KB1chr17

57990167

+HTR2CchrX

113934208

-
5CDS-intronENST00000393021ENST00000371951RPS6KB1chr17

57990167

+HTR2CchrX

113934208

-
5CDS-intronENST00000406116ENST00000276198RPS6KB1chr17

57990167

+HTR2CchrX

113934208

-
5CDS-intronENST00000406116ENST00000371950RPS6KB1chr17

57990167

+HTR2CchrX

113934208

-
5CDS-intronENST00000406116ENST00000371951RPS6KB1chr17

57990167

+HTR2CchrX

113934208

-
5CDS-intronENST00000443572ENST00000276198RPS6KB1chr17

57990167

+HTR2CchrX

113934208

-
5CDS-intronENST00000443572ENST00000371950RPS6KB1chr17

57990167

+HTR2CchrX

113934208

-
5CDS-intronENST00000443572ENST00000371951RPS6KB1chr17

57990167

+HTR2CchrX

113934208

-
intron-intronENST00000587061ENST00000276198RPS6KB1chr17

57990167

+HTR2CchrX

113934208

-
intron-intronENST00000587061ENST00000371950RPS6KB1chr17

57990167

+HTR2CchrX

113934208

-
intron-intronENST00000587061ENST00000371951RPS6KB1chr17

57990167

+HTR2CchrX

113934208

-

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-HTR2C


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 RPS6KB1-HTR2C


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/:57990167/:113934208)
- 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
..
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}.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 RPS6KB1-HTR2C


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-HTR2C


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-HTR2C


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-HTR2C


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
TgeneC0001973Alcoholic Intoxication, Chronic5PSYGENET
TgeneC0005586Bipolar Disorder5PSYGENET
TgeneC0011570Mental Depression5PSYGENET
TgeneC0011581Depressive disorder5PSYGENET
TgeneC0041696Unipolar Depression5PSYGENET
TgeneC0525045Mood Disorders5PSYGENET
TgeneC1269683Major Depressive Disorder5PSYGENET
TgeneC0036341Schizophrenia4PSYGENET
TgeneC0524620Metabolic Syndrome X3CTD_human
TgeneC0028754Obesity2CTD_human
TgeneC0043094Weight Gain2CTD_human
TgeneC0085159Seasonal Affective Disorder2PSYGENET
TgeneC0009171Cocaine Abuse1PSYGENET
TgeneC0027796Neuralgia1CTD_human
TgeneC0038587Substance Withdrawal Syndrome1CTD_human
TgeneC0038870Neuralgia, Supraorbital1CTD_human
TgeneC0042656Neuralgia, Vidian1CTD_human
TgeneC0086189Drug Withdrawal Symptoms1CTD_human
TgeneC0087169Withdrawal Symptoms1CTD_human
TgeneC0234247Neuralgia, Atypical1CTD_human
TgeneC0234249Neuralgia, Stump1CTD_human
TgeneC0423711Neuralgia, Perineal1CTD_human
TgeneC0423712Neuralgia, Iliohypogastric Nerve1CTD_human
TgeneC0751217Hyperkinesia, Generalized1CTD_human
TgeneC0751371Neuralgia, Ilioinguinal1CTD_human
TgeneC0751372Nerve Pain1CTD_human
TgeneC0751373Paroxysmal Nerve Pain1CTD_human
TgeneC3887506Hyperkinesia1CTD_human