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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:RPS6KA5-MADD (FusionGDB2 ID:78024)

Fusion Gene Summary for RPS6KA5-MADD

check button Fusion gene summary
Fusion gene informationFusion gene name: RPS6KA5-MADD
Fusion gene ID: 78024
HgeneTgene
Gene symbol

RPS6KA5

MADD

Gene ID

9252

8567

Gene nameribosomal protein S6 kinase A5MAP kinase activating death domain
SynonymsMSK1|MSPK1|RLPKDENN|IG20|RAB3GEP
Cytomap

14q32.11

11p11.2

Type of geneprotein-codingprotein-coding
Descriptionribosomal protein S6 kinase alpha-590 kDa ribosomal protein S6 kinase 5RSK-like protein kinaseRSKLS6K-alpha-5nuclear mitogen- and stress-activated protein kinase 1ribosomal protein S6 kinase, 90kDa, polypeptide 5MAP kinase-activating death domain proteinRab3 GDP/GTP exchange factordifferentially expressed in normal and neoplastic cellsinsulinoma glucagonoma clone 20
Modification date2020031320200313
UniProtAcc.

Q8WXG6

Ensembl transtripts involved in fusion geneENST00000261991, ENST00000418736, 
ENST00000536315, ENST00000556304, 
ENST00000311027, ENST00000342922, 
ENST00000349238, ENST00000395336, 
ENST00000395344, ENST00000402192, 
ENST00000402799, ENST00000405573, 
ENST00000406482, ENST00000407859, 
ENST00000489415, 
Fusion gene scores* DoF score12 X 10 X 6=7205 X 6 X 3=90
# samples 136
** MAII scorelog2(13/720*10)=-2.46948528330122
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RPS6KA5 [Title/Abstract] AND MADD [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRPS6KA5(91321172)-MADD(47336217), # 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
HgeneRPS6KA5

GO:0006355

regulation of transcription, DNA-templated

9687510

HgeneRPS6KA5

GO:0006468

protein phosphorylation

9687510

HgeneRPS6KA5

GO:0016572

histone phosphorylation

9873047

HgeneRPS6KA5

GO:0035556

intracellular signal transduction

9687510

HgeneRPS6KA5

GO:0043990

histone H2A-S1 phosphorylation

15010469

HgeneRPS6KA5

GO:0045892

negative regulation of transcription, DNA-templated

15010469

TgeneMADD

GO:0032483

regulation of Rab protein signal transduction

20937701

TgeneMADD

GO:2001236

regulation of extrinsic apoptotic signaling pathway

11577081


check buttonFusion gene breakpoints across RPS6KA5 (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 MADD (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/AFN143846RPS6KA5chr14

91321172

+MADDchr11

47336217

+


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Fusion Gene ORF analysis for RPS6KA5-MADD

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-intronENST00000261991ENST00000311027RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000261991ENST00000342922RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000261991ENST00000349238RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000261991ENST00000395336RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000261991ENST00000395344RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000261991ENST00000402192RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000261991ENST00000402799RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000261991ENST00000405573RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000261991ENST00000406482RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000261991ENST00000407859RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000261991ENST00000489415RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000418736ENST00000311027RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000418736ENST00000342922RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000418736ENST00000349238RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000418736ENST00000395336RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000418736ENST00000395344RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000418736ENST00000402192RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000418736ENST00000402799RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000418736ENST00000405573RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000418736ENST00000406482RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000418736ENST00000407859RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000418736ENST00000489415RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000536315ENST00000311027RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000536315ENST00000342922RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000536315ENST00000349238RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000536315ENST00000395336RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000536315ENST00000395344RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000536315ENST00000402192RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000536315ENST00000402799RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000536315ENST00000405573RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000536315ENST00000406482RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000536315ENST00000407859RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000536315ENST00000489415RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000556304ENST00000311027RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000556304ENST00000342922RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000556304ENST00000349238RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000556304ENST00000395336RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000556304ENST00000395344RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000556304ENST00000402192RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000556304ENST00000402799RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000556304ENST00000405573RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000556304ENST00000406482RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000556304ENST00000407859RPS6KA5chr14

91321172

+MADDchr11

47336217

+
intron-intronENST00000556304ENST00000489415RPS6KA5chr14

91321172

+MADDchr11

47336217

+

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 RPS6KA5-MADD


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 RPS6KA5-MADD


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/:91321172/:47336217)
- 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
.MADD

Q8WXG6

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: Plays a significant role in regulating cell proliferation, survival and death through alternative mRNA splicing. Isoform 5 shows increased cell proliferation and isoform 2 shows decreased. Converts GDP-bound inactive form of RAB3A, RAB3C and RAB3D to the GTP-bound active forms. Component of the TNFRSF1A signaling complex: MADD links TNFRSF1A with MAP kinase activation. Plays an important regulatory role in physiological cell death (TNF-alpha-induced, caspase-mediated apoptosis); isoform 1 is susceptible to inducing apoptosis, isoform 5 is resistant and isoform 3 and isoform 4 have no effect. {ECO:0000269|PubMed:11577081, ECO:0000269|PubMed:14716293, ECO:0000269|PubMed:14735464, ECO:0000269|PubMed:15007167, ECO:0000269|PubMed:20937701, ECO:0000269|PubMed:9115275}.

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 RPS6KA5-MADD


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 RPS6KA5-MADD


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 RPS6KA5-MADD


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 RPS6KA5-MADD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource