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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-RNF213 (FusionGDB2 ID:78039)

Fusion Gene Summary for RPS6KB1-RNF213

check button Fusion gene summary
Fusion gene informationFusion gene name: RPS6KB1-RNF213
Fusion gene ID: 78039
HgeneTgene
Gene symbol

RPS6KB1

RNF213

Gene ID

6198

57674

Gene nameribosomal protein S6 kinase B1ring finger protein 213
SynonymsPS6K|S6K|S6K-beta-1|S6K1|STK14A|p70 S6KA|p70(S6K)-alpha|p70-S6K|p70-alphaALO17|C17orf27|KIAA1618|MYMY2|MYSTR|NET57
Cytomap

17q23.1

17q25.3

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 14AE3 ubiquitin-protein ligase RNF213ALK lymphoma oligomerization partner on chromosome 17RING-type E3 ubiquitin transferase RNF213mysterin
Modification date2020031320200313
UniProtAcc.

Q63HN8

Ensembl transtripts involved in fusion geneENST00000225577, ENST00000406116, 
ENST00000443572, ENST00000393021, 
ENST00000587061, 		ENST00000319921, 
ENST00000336301, ENST00000427003, 
ENST00000456466, ENST00000582970, 
ENST00000508628, 
Fusion gene scores* DoF score14 X 17 X 14=333217 X 18 X 7=2142
# samples 4720
** MAII scorelog2(47/3332*10)=-2.82565573880055
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(20/2142*10)=-3.42088657497553
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RPS6KB1 [Title/Abstract] AND RNF213 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRPS6KB1(57971285)-RNF213(78345674), # samples:3
Anticipated loss of major functional domain due to fusion event.RPS6KB1-RNF213 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
RPS6KB1-RNF213 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
RPS6KB1-RNF213 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
RPS6KB1-RNF213 seems lost the major protein functional domain in Tgene partner, which is a CGC 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

TgeneRNF213

GO:0016567

protein ubiquitination

21799892

TgeneRNF213

GO:0051260

protein homooligomerization

24658080|26126547

TgeneRNF213

GO:0051865

protein autoubiquitination

21799892


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 RNF213 (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-AQ-A04H-01BRPS6KB1chr17

57970686

+RNF213chr17

78345674

+
ChimerDB4BRCATCGA-AQ-A04H-01BRPS6KB1chr17

57971285

-RNF213chr17

78345674

+
ChimerDB4BRCATCGA-AQ-A04H-01BRPS6KB1chr17

57971285

+RNF213chr17

78345674

+
ChimerDB4BRCATCGA-AQ-A04HRPS6KB1chr17

57970686

+RNF213chr17

78345673

+


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Fusion Gene ORF analysis for RPS6KB1-RNF213

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-intronENST00000225577ENST00000319921RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5CDS-intronENST00000225577ENST00000319921RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
5CDS-intronENST00000225577ENST00000336301RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5CDS-intronENST00000225577ENST00000336301RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
5CDS-intronENST00000225577ENST00000427003RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5CDS-intronENST00000225577ENST00000427003RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
5CDS-intronENST00000225577ENST00000456466RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5CDS-intronENST00000225577ENST00000456466RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
5CDS-intronENST00000225577ENST00000582970RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5CDS-intronENST00000225577ENST00000582970RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
5CDS-intronENST00000406116ENST00000319921RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5CDS-intronENST00000406116ENST00000319921RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
5CDS-intronENST00000406116ENST00000336301RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5CDS-intronENST00000406116ENST00000336301RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
5CDS-intronENST00000406116ENST00000427003RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5CDS-intronENST00000406116ENST00000427003RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
5CDS-intronENST00000406116ENST00000456466RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5CDS-intronENST00000406116ENST00000456466RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
5CDS-intronENST00000406116ENST00000582970RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5CDS-intronENST00000406116ENST00000582970RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
5CDS-intronENST00000443572ENST00000319921RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5CDS-intronENST00000443572ENST00000319921RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
5CDS-intronENST00000443572ENST00000336301RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5CDS-intronENST00000443572ENST00000336301RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
5CDS-intronENST00000443572ENST00000427003RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5CDS-intronENST00000443572ENST00000427003RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
5CDS-intronENST00000443572ENST00000456466RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5CDS-intronENST00000443572ENST00000456466RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
5CDS-intronENST00000443572ENST00000582970RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5CDS-intronENST00000443572ENST00000582970RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
5UTR-3CDSENST00000393021ENST00000508628RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5UTR-3CDSENST00000393021ENST00000508628RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
5UTR-3CDSENST00000393021ENST00000508628RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
5UTR-intronENST00000393021ENST00000319921RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5UTR-intronENST00000393021ENST00000319921RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
5UTR-intronENST00000393021ENST00000319921RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
5UTR-intronENST00000393021ENST00000336301RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5UTR-intronENST00000393021ENST00000336301RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
5UTR-intronENST00000393021ENST00000336301RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
5UTR-intronENST00000393021ENST00000427003RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5UTR-intronENST00000393021ENST00000427003RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
5UTR-intronENST00000393021ENST00000427003RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
5UTR-intronENST00000393021ENST00000456466RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5UTR-intronENST00000393021ENST00000456466RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
5UTR-intronENST00000393021ENST00000456466RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
5UTR-intronENST00000393021ENST00000582970RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
5UTR-intronENST00000393021ENST00000582970RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
5UTR-intronENST00000393021ENST00000582970RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
Frame-shiftENST00000225577ENST00000508628RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
Frame-shiftENST00000225577ENST00000508628RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
Frame-shiftENST00000406116ENST00000508628RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
Frame-shiftENST00000406116ENST00000508628RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
Frame-shiftENST00000443572ENST00000508628RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
Frame-shiftENST00000443572ENST00000508628RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
intron-3CDSENST00000225577ENST00000508628RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-3CDSENST00000406116ENST00000508628RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-3CDSENST00000443572ENST00000508628RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-3CDSENST00000587061ENST00000508628RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
intron-3CDSENST00000587061ENST00000508628RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-3CDSENST00000587061ENST00000508628RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
intron-intronENST00000225577ENST00000319921RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-intronENST00000225577ENST00000336301RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-intronENST00000225577ENST00000427003RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-intronENST00000225577ENST00000456466RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-intronENST00000225577ENST00000582970RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-intronENST00000406116ENST00000319921RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-intronENST00000406116ENST00000336301RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-intronENST00000406116ENST00000427003RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-intronENST00000406116ENST00000456466RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-intronENST00000406116ENST00000582970RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-intronENST00000443572ENST00000319921RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-intronENST00000443572ENST00000336301RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-intronENST00000443572ENST00000427003RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-intronENST00000443572ENST00000456466RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-intronENST00000443572ENST00000582970RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-intronENST00000587061ENST00000319921RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
intron-intronENST00000587061ENST00000319921RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-intronENST00000587061ENST00000319921RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
intron-intronENST00000587061ENST00000336301RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
intron-intronENST00000587061ENST00000336301RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-intronENST00000587061ENST00000336301RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
intron-intronENST00000587061ENST00000427003RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
intron-intronENST00000587061ENST00000427003RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-intronENST00000587061ENST00000427003RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
intron-intronENST00000587061ENST00000456466RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
intron-intronENST00000587061ENST00000456466RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-intronENST00000587061ENST00000456466RPS6KB1chr17

57970686

+RNF213chr17

78345673

+
intron-intronENST00000587061ENST00000582970RPS6KB1chr17

57970686

+RNF213chr17

78345674

+
intron-intronENST00000587061ENST00000582970RPS6KB1chr17

57971285

+RNF213chr17

78345674

+
intron-intronENST00000587061ENST00000582970RPS6KB1chr17

57970686

+RNF213chr17

78345673

+

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-RNF213


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)
RPS6KB1chr1757971285+RNF213chr1778345673+3.83E-050.9999616
RPS6KB1chr1757970686+RNF213chr1778345673+1.52E-111
RPS6KB1chr1757970686+RNF213chr1778345673+1.52E-111
RPS6KB1chr1757971285+RNF213chr1778345673+3.83E-050.9999616
RPS6KB1chr1757970686+RNF213chr1778345673+1.52E-111
RPS6KB1chr1757970686+RNF213chr1778345673+1.52E-111

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.
genomic feature of top 1%

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Fusion Protein Features for RPS6KB1-RNF213


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/:57971285/:78345674)
- 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
.RNF213

Q63HN8

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: Atypical E3 ubiquitin ligase that can catalyze ubiquitination of both proteins and lipids, and which is involved in various processes, such as lipid metabolism, angiogenesis and cell-autonomous immunity (PubMed:21799892, PubMed:26126547, PubMed:26278786, PubMed:26766444, PubMed:30705059, PubMed:32139119, PubMed:34012115). Acts as a key immune sensor by catalyzing ubiquitination of the lipid A moiety of bacterial lipopolysaccharide (LPS) via its RZ-type zinc-finger: restricts the proliferation of cytosolic bacteria, such as Salmonella, by generating the bacterial ubiquitin coat through the ubiquitination of LPS (PubMed:34012115). Also acts indirectly by mediating the recruitment of the LUBAC complex, which conjugates linear polyubiquitin chains (PubMed:34012115). Ubiquitination of LPS triggers cell-autonomous immunity, such as antibacterial autophagy, leading to degradation of the microbial invader (PubMed:34012115). Involved in lipid metabolism by regulating fat storage and lipid droplet formation; act by inhibiting the lipolytic process (PubMed:30705059). Also regulates lipotoxicity by inhibiting desaturation of fatty acids (PubMed:30846318). Also acts as an E3 ubiquitin-protein ligase via its RING-type zinc finger: mediates 'Lys-63'-linked ubiquitination of target proteins (PubMed:32139119, PubMed:33842849). Involved in the non-canonical Wnt signaling pathway in vascular development: acts by mediating ubiquitination and degradation of FLNA and NFATC2 downstream of RSPO3, leading to inhibit the non-canonical Wnt signaling pathway and promoting vessel regression (PubMed:26766444). Also has ATPase activity; ATPase activity is required for ubiquitination of LPS (PubMed:34012115). {ECO:0000269|PubMed:21799892, ECO:0000269|PubMed:26126547, ECO:0000269|PubMed:26278786, ECO:0000269|PubMed:26766444, ECO:0000269|PubMed:30705059, ECO:0000269|PubMed:30846318, ECO:0000269|PubMed:32139119, ECO:0000269|PubMed:33842849, ECO:0000269|PubMed:34012115}.

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-RNF213


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-RNF213


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-RNF213


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-RNF213


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