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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:RNF213-UVSSA (FusionGDB2 ID:74534)

Fusion Gene Summary for RNF213-UVSSA

check button Fusion gene summary
Fusion gene informationFusion gene name: RNF213-UVSSA
Fusion gene ID: 74534
HgeneTgene
Gene symbol

RNF213

UVSSA

Gene ID

57674

57654

Gene namering finger protein 213UV stimulated scaffold protein A
SynonymsALO17|C17orf27|KIAA1618|MYMY2|MYSTR|NET57KIAA1530|UVSS3
Cytomap

17q25.3

4p16.3

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase RNF213ALK lymphoma oligomerization partner on chromosome 17RING-type E3 ubiquitin transferase RNF213mysterinUV-stimulated scaffold protein A
Modification date2020031320200313
UniProtAcc.

Q2YD98

Ensembl transtripts involved in fusion geneENST00000508628, ENST00000456466, 
ENST00000582970, ENST00000319921, 
ENST00000336301, ENST00000427003, 
ENST00000511216, ENST00000389851, 
ENST00000507531, ENST00000511563, 
ENST00000512728, ENST00000507422, 
Fusion gene scores* DoF score34 X 32 X 16=174082 X 2 X 2=8
# samples 412
** MAII scorelog2(41/17408*10)=-5.40798274174489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

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

Most frequent breakpointRNF213(78308070)-UVSSA(1345503), # samples:2
Anticipated loss of major functional domain due to fusion event.RNF213-UVSSA seems lost the major protein functional domain in Hgene 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
HgeneRNF213

GO:0016567

protein ubiquitination

21799892

HgeneRNF213

GO:0051260

protein homooligomerization

24658080|26126547

HgeneRNF213

GO:0051865

protein autoubiquitination

21799892


check buttonFusion gene breakpoints across RNF213 (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 UVSSA (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
ChimerDB4UCSTCGA-NA-A5I1-01ARNF213chr17

78308070

+UVSSAchr4

1345503

+
ChimerDB4UCSTCGA-NA-A5I1RNF213chr17

78308070

+UVSSAchr4

1345503

+


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Fusion Gene ORF analysis for RNF213-UVSSA

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
Frame-shiftENST00000508628ENST00000511216RNF213chr17

78308070

+UVSSAchr4

1345503

+
Frame-shiftENST00000508628ENST00000389851RNF213chr17

78308070

+UVSSAchr4

1345503

+
Frame-shiftENST00000508628ENST00000507531RNF213chr17

78308070

+UVSSAchr4

1345503

+
5CDS-intronENST00000508628ENST00000511563RNF213chr17

78308070

+UVSSAchr4

1345503

+
5CDS-intronENST00000508628ENST00000512728RNF213chr17

78308070

+UVSSAchr4

1345503

+
5CDS-intronENST00000508628ENST00000507422RNF213chr17

78308070

+UVSSAchr4

1345503

+
Frame-shiftENST00000456466ENST00000511216RNF213chr17

78308070

+UVSSAchr4

1345503

+
Frame-shiftENST00000456466ENST00000389851RNF213chr17

78308070

+UVSSAchr4

1345503

+
Frame-shiftENST00000456466ENST00000507531RNF213chr17

78308070

+UVSSAchr4

1345503

+
5CDS-intronENST00000456466ENST00000511563RNF213chr17

78308070

+UVSSAchr4

1345503

+
5CDS-intronENST00000456466ENST00000512728RNF213chr17

78308070

+UVSSAchr4

1345503

+
5CDS-intronENST00000456466ENST00000507422RNF213chr17

78308070

+UVSSAchr4

1345503

+
Frame-shiftENST00000582970ENST00000511216RNF213chr17

78308070

+UVSSAchr4

1345503

+
Frame-shiftENST00000582970ENST00000389851RNF213chr17

78308070

+UVSSAchr4

1345503

+
Frame-shiftENST00000582970ENST00000507531RNF213chr17

78308070

+UVSSAchr4

1345503

+
5CDS-intronENST00000582970ENST00000511563RNF213chr17

78308070

+UVSSAchr4

1345503

+
5CDS-intronENST00000582970ENST00000512728RNF213chr17

78308070

+UVSSAchr4

1345503

+
5CDS-intronENST00000582970ENST00000507422RNF213chr17

78308070

+UVSSAchr4

1345503

+
intron-3CDSENST00000319921ENST00000511216RNF213chr17

78308070

+UVSSAchr4

1345503

+
intron-3CDSENST00000319921ENST00000389851RNF213chr17

78308070

+UVSSAchr4

1345503

+
intron-3CDSENST00000319921ENST00000507531RNF213chr17

78308070

+UVSSAchr4

1345503

+
intron-intronENST00000319921ENST00000511563RNF213chr17

78308070

+UVSSAchr4

1345503

+
intron-intronENST00000319921ENST00000512728RNF213chr17

78308070

+UVSSAchr4

1345503

+
intron-intronENST00000319921ENST00000507422RNF213chr17

78308070

+UVSSAchr4

1345503

+
intron-3CDSENST00000336301ENST00000511216RNF213chr17

78308070

+UVSSAchr4

1345503

+
intron-3CDSENST00000336301ENST00000389851RNF213chr17

78308070

+UVSSAchr4

1345503

+
intron-3CDSENST00000336301ENST00000507531RNF213chr17

78308070

+UVSSAchr4

1345503

+
intron-intronENST00000336301ENST00000511563RNF213chr17

78308070

+UVSSAchr4

1345503

+
intron-intronENST00000336301ENST00000512728RNF213chr17

78308070

+UVSSAchr4

1345503

+
intron-intronENST00000336301ENST00000507422RNF213chr17

78308070

+UVSSAchr4

1345503

+
intron-3CDSENST00000427003ENST00000511216RNF213chr17

78308070

+UVSSAchr4

1345503

+
intron-3CDSENST00000427003ENST00000389851RNF213chr17

78308070

+UVSSAchr4

1345503

+
intron-3CDSENST00000427003ENST00000507531RNF213chr17

78308070

+UVSSAchr4

1345503

+
intron-intronENST00000427003ENST00000511563RNF213chr17

78308070

+UVSSAchr4

1345503

+
intron-intronENST00000427003ENST00000512728RNF213chr17

78308070

+UVSSAchr4

1345503

+
intron-intronENST00000427003ENST00000507422RNF213chr17

78308070

+UVSSAchr4

1345503

+

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 RNF213-UVSSA


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)
RNF213chr1778308070+UVSSAchr41345502+6.39E-091
RNF213chr1778308070+UVSSAchr41345502+6.39E-091
RNF213chr1778308070+UVSSAchr41345502+6.39E-091
RNF213chr1778308070+UVSSAchr41345502+6.39E-091

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 RNF213-UVSSA


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
.UVSSA

Q2YD98

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: Factor involved in transcription-coupled nucleotide excision repair (TC-NER) in response to UV damage. TC-NER allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Acts by promoting stabilization of ERCC6 by recruiting deubiquitinating enzyme USP7 to TC-NER complexes, preventing UV-induced degradation of ERCC6 by the proteasome. Interacts with the elongating form of RNA polymerase II (RNA pol IIo) and facilitates its ubiquitination at UV damage sites, leading to promote RNA pol IIo backtracking to allow access to the nucleotide excision repair machinery. Not involved in processing oxidative damage. {ECO:0000269|PubMed:22466610, ECO:0000269|PubMed:22466611, ECO:0000269|PubMed:22466612}.

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 RNF213-UVSSA


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 RNF213-UVSSA


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 RNF213-UVSSA


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 RNF213-UVSSA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRNF213C1846689MOYAMOYA DISEASE 29CTD_human;UNIPROT
HgeneRNF213C0026654Moyamoya Disease3ORPHANET
HgeneRNF213C2931384Moyamoya disease 13ORPHANET
TgeneUVSSAC1833561UV-Sensitive Syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneUVSSAC3553328UV-SENSITIVE SYNDROME 33GENOMICS_ENGLAND;UNIPROT