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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:RPS6KA2-RPS6KA2 (FusionGDB2 ID:77550)

Fusion Gene Summary for RPS6KA2-RPS6KA2

check button Fusion gene summary
Fusion gene informationFusion gene name: RPS6KA2-RPS6KA2
Fusion gene ID: 77550
HgeneTgene
Gene symbol

RPS6KA2

RPS6KA2

Gene ID

6196

6196

Gene nameribosomal protein S6 kinase A2ribosomal protein S6 kinase A2
SynonymsHU-2|MAPKAPK1C|RSK|RSK3|S6K-alpha|S6K-alpha2|p90-RSK3|p90RSK2|pp90RSK3HU-2|MAPKAPK1C|RSK|RSK3|S6K-alpha|S6K-alpha2|p90-RSK3|p90RSK2|pp90RSK3
Cytomap

6q27

6q27

Type of geneprotein-codingprotein-coding
Descriptionribosomal protein S6 kinase alpha-2MAP kinase-activated protein kinase 1cMAPK-activated protein kinase 1cMAPKAP kinase 1Cmitogen-activated protein kinase-activated protein kinase 1Cribosomal S6 kinase 3ribosomal protein S6 kinase, 90kDa, polypeptideribosomal protein S6 kinase alpha-2MAP kinase-activated protein kinase 1cMAPK-activated protein kinase 1cMAPKAP kinase 1Cmitogen-activated protein kinase-activated protein kinase 1Cribosomal S6 kinase 3ribosomal protein S6 kinase, 90kDa, polypeptide
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000265678, ENST00000510118, 
ENST00000503859, ENST00000481261, 
ENST00000405189, ENST00000366863, 
ENST00000509742, 		ENST00000265678, 
ENST00000510118, ENST00000503859, 
ENST00000481261, ENST00000405189, 
ENST00000366863, ENST00000509742, 
Fusion gene scores* DoF score9 X 9 X 5=40510 X 10 X 2=200
# samples 1010
** MAII scorelog2(10/405*10)=-2.01792190799726
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/200*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RPS6KA2 [Title/Abstract] AND RPS6KA2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRPS6KA2(166843955)-RPS6KA2(166844073), # 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
HgeneRPS6KA2

GO:0008285

negative regulation of cell proliferation

16878154

HgeneRPS6KA2

GO:0043065

positive regulation of apoptotic process

16878154

HgeneRPS6KA2

GO:0045786

negative regulation of cell cycle

16878154

TgeneRPS6KA2

GO:0008285

negative regulation of cell proliferation

16878154

TgeneRPS6KA2

GO:0043065

positive regulation of apoptotic process

16878154

TgeneRPS6KA2

GO:0045786

negative regulation of cell cycle

16878154


check buttonFusion gene breakpoints across RPS6KA2 (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 RPS6KA2 (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
ChiTaRS5.0N/ABI011349RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-


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Fusion Gene ORF analysis for RPS6KA2-RPS6KA2

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
intron-3CDSENST00000265678ENST00000265678RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000265678ENST00000510118RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000265678ENST00000503859RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000265678ENST00000481261RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000265678ENST00000405189RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-intronENST00000265678ENST00000366863RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-intronENST00000265678ENST00000509742RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000510118ENST00000265678RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000510118ENST00000510118RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000510118ENST00000503859RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000510118ENST00000481261RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000510118ENST00000405189RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-intronENST00000510118ENST00000366863RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-intronENST00000510118ENST00000509742RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000503859ENST00000265678RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000503859ENST00000510118RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000503859ENST00000503859RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000503859ENST00000481261RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000503859ENST00000405189RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-intronENST00000503859ENST00000366863RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-intronENST00000503859ENST00000509742RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000481261ENST00000265678RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000481261ENST00000510118RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000481261ENST00000503859RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000481261ENST00000481261RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000481261ENST00000405189RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-intronENST00000481261ENST00000366863RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-intronENST00000481261ENST00000509742RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000405189ENST00000265678RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000405189ENST00000510118RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000405189ENST00000503859RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000405189ENST00000481261RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000405189ENST00000405189RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-intronENST00000405189ENST00000366863RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-intronENST00000405189ENST00000509742RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000366863ENST00000265678RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000366863ENST00000510118RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000366863ENST00000503859RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000366863ENST00000481261RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000366863ENST00000405189RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-intronENST00000366863ENST00000366863RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-intronENST00000366863ENST00000509742RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000509742ENST00000265678RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000509742ENST00000510118RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000509742ENST00000503859RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000509742ENST00000481261RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-3CDSENST00000509742ENST00000405189RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-intronENST00000509742ENST00000366863RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-
intron-intronENST00000509742ENST00000509742RPS6KA2chr6

166843955

+RPS6KA2chr6

166844073

-

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 RPS6KA2-RPS6KA2


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 RPS6KA2-RPS6KA2


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 RPS6KA2-RPS6KA2


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 RPS6KA2-RPS6KA2


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 RPS6KA2-RPS6KA2


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 RPS6KA2-RPS6KA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRPS6KA2C0005586Bipolar Disorder1CTD_human
HgeneRPS6KA2C0005587Depression, Bipolar1CTD_human
HgeneRPS6KA2C0024713Manic Disorder1CTD_human
HgeneRPS6KA2C0338831Manic1CTD_human
TgeneRPS6KA2C0005586Bipolar Disorder1CTD_human
TgeneRPS6KA2C0005587Depression, Bipolar1CTD_human
TgeneRPS6KA2C0024713Manic Disorder1CTD_human
TgeneRPS6KA2C0338831Manic1CTD_human