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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 31534

FusionGeneSummary for RNF213_UVSSA

check button Fusion gene summary
Fusion gene informationFusion gene name: RNF213_UVSSA
Fusion gene ID: 31534
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 date2018052720180519
UniProtAcc

Q63HN8

Q2YD98

Ensembl transtripts involved in fusion geneENST00000508628, ENST00000456466, 
ENST00000582970, ENST00000319921, 
ENST00000336301, ENST00000427003, 
ENST00000511216, ENST00000389851, 
ENST00000507531, ENST00000511563, 
ENST00000512728, ENST00000507422, 
Fusion gene scores* DoF score22 X 22 X 12=58081 X 1 X 1=1
# samples 301
** MAII scorelog2(30/5808*10)=-4.27500704749987
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

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

Functional or gene categories assigned by FusionGDB annotationDDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDUCSTCGA-NA-A5I1-01ARNF213chr17

78308070

+UVSSAchr4

1345503

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-shitENST00000508628ENST00000511216RNF213chr17

78308070

+UVSSAchr4

1345503

+
Frame-shitENST00000508628ENST00000389851RNF213chr17

78308070

+UVSSAchr4

1345503

+
Frame-shitENST00000508628ENST00000507531RNF213chr17

78308070

+UVSSAchr4

1345503

+
5CDS-intronENST00000508628ENST00000511563RNF213chr17

78308070

+UVSSAchr4

1345503

+
5CDS-intronENST00000508628ENST00000512728RNF213chr17

78308070

+UVSSAchr4

1345503

+
5CDS-intronENST00000508628ENST00000507422RNF213chr17

78308070

+UVSSAchr4

1345503

+
Frame-shitENST00000456466ENST00000511216RNF213chr17

78308070

+UVSSAchr4

1345503

+
Frame-shitENST00000456466ENST00000389851RNF213chr17

78308070

+UVSSAchr4

1345503

+
Frame-shitENST00000456466ENST00000507531RNF213chr17

78308070

+UVSSAchr4

1345503

+
5CDS-intronENST00000456466ENST00000511563RNF213chr17

78308070

+UVSSAchr4

1345503

+
5CDS-intronENST00000456466ENST00000512728RNF213chr17

78308070

+UVSSAchr4

1345503

+
5CDS-intronENST00000456466ENST00000507422RNF213chr17

78308070

+UVSSAchr4

1345503

+
Frame-shitENST00000582970ENST00000511216RNF213chr17

78308070

+UVSSAchr4

1345503

+
Frame-shitENST00000582970ENST00000389851RNF213chr17

78308070

+UVSSAchr4

1345503

+
Frame-shitENST00000582970ENST00000507531RNF213chr17

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

+

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FusionProtFeatures for RNF213_UVSSA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RNF213

Q63HN8

UVSSA

Q2YD98

Factor involved in transcription-coupled nucleotideexcision repair (TC-NER) in response to UV damage. TC-NER allowsRNA polymerase II-blocking lesions to be rapidly removed from thetranscribed strand of active genes. Acts by promotingstabilization of ERCC6 by recruiting deubiquitinating enzyme USP7to TC-NER complexes, preventing UV-induced degradation of ERCC6 bythe proteasome. Interacts with the elongating form of RNApolymerase II (RNA pol IIo) and facilitates its ubiquitination atUV damage sites, leading to promote RNA pol IIo backtracking toallow access to the nucleotide excision repair machinery. Notinvolved 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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FusionGeneSequence for RNF213_UVSSA


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
RNF213UBC, CBX2, CBX4, CBX6, EGFR, PLAC9, RNF213, TRIM23, GOLGA2, REL, TRIM27, TRIP6, UBXN11, KRT40, CD244, SCN2B, IFI16, PTPN1, MRPL50, RNASEH2B, GAN, MCM2, ATOH1, DLK2, SIGLECL1, SDC2, LAMP3, CYLDUVSSAUSP7, ERCC8, DDB1, GTF2H1, ERCC3, ERCC2, SETD1A, SIRT1, CDK7, SYNCRIP, BAG6


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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RelatedDrugs for RNF213_UVSSA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for RNF213_UVSSA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRNF213C1846689MOYAMOYA DISEASE 23UNIPROT
TgeneUVSSAC3551173UV-SENSITIVE SYNDROME 12CTD_human
TgeneUVSSAC3553328UV-SENSITIVE SYNDROME 31UNIPROT