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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: 11597

FusionGeneSummary for ENDOV_RNF213

check button Fusion gene summary
Fusion gene informationFusion gene name: ENDOV_RNF213
Fusion gene ID: 11597
HgeneTgene
Gene symbol

ENDOV

RNF213

Gene ID

284131

57674

Gene nameendonuclease Vring finger protein 213
Synonyms-ALO17|C17orf27|KIAA1618|MYMY2|MYSTR|NET57
Cytomap

17q25.3

17q25.3

Type of geneprotein-codingprotein-coding
Descriptionendonuclease VhEndoVinosine-specific endoribonucleaseE3 ubiquitin-protein ligase RNF213ALK lymphoma oligomerization partner on chromosome 17RING-type E3 ubiquitin transferase RNF213mysterin
Modification date2018052320180527
UniProtAcc

Q8N8Q3

Q63HN8

Ensembl transtripts involved in fusion geneENST00000520367, ENST00000518137, 
ENST00000523999, ENST00000323854, 
ENST00000522751, ENST00000520284, 
ENST00000517795, ENST00000518907, 
ENST00000521847, ENST00000518644, 
ENST00000518901, ENST00000517295, 
ENST00000508628, ENST00000456466, 
ENST00000582970, ENST00000319921, 
ENST00000336301, ENST00000427003, 
Fusion gene scores* DoF score4 X 3 X 3=3612 X 13 X 6=936
# samples 415
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(15/936*10)=-2.64154602908752
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ENDOV [Title/Abstract] AND RNF213 [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
TgeneRNF213

GO:0016567

protein ubiquitination

21799892

TgeneRNF213

GO:0051260

protein homooligomerization

24658080|26126547

TgeneRNF213

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
TCGALDOVTCGA-61-1910-01AENDOVchr17

78403631

+RNF213chr17

78362412

+
* 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-shitENST00000520367ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000520367ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000520367ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000520367ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000520367ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-3UTRENST00000520367ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
Frame-shitENST00000518137ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000518137ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000518137ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000518137ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000518137ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-3UTRENST00000518137ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-3CDSENST00000523999ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000523999ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000523999ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000523999ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000523999ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-3UTRENST00000523999ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
In-frameENST00000323854ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000323854ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000323854ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000323854ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000323854ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-3UTRENST00000323854ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
Frame-shitENST00000522751ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000522751ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000522751ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000522751ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000522751ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-3UTRENST00000522751ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-3CDSENST00000520284ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000520284ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000520284ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000520284ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000520284ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-3UTRENST00000520284ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
Frame-shitENST00000517795ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000517795ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000517795ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000517795ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000517795ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-3UTRENST00000517795ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-3CDSENST00000518907ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000518907ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000518907ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000518907ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000518907ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-3UTRENST00000518907ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-3CDSENST00000521847ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000521847ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000521847ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000521847ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000521847ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-3UTRENST00000521847ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-3CDSENST00000518644ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000518644ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000518644ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000518644ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000518644ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-3UTRENST00000518644ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
Frame-shitENST00000518901ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000518901ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000518901ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000518901ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000518901ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-3UTRENST00000518901ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
Frame-shitENST00000517295ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000517295ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000517295ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000517295ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000517295ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-3UTRENST00000517295ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+

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FusionProtFeatures for ENDOV_RNF213


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

Q8N8Q3

RNF213

Q63HN8

Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3'to inosine. Has strong preference for single-stranded RNAs(ssRNAs) toward double-stranded RNAs (dsRNAs). Cleaves mRNAs andtRNAs containing inosine. Also able to cleave structure-specificdsRNA substrates containing the specific sites 5'-IIUI-3' and 5'-UIUU-3'. Inosine is present in a number of RNAs following editing;the function of inosine-specific endoribonuclease is stillunclear: it could either play a regulatory role in edited RNAs, orbe involved in antiviral response by removing the hyperedited longviral dsRNA genome that has undergone A-to-I editing. Bindsbranched DNA structures. {ECO:0000269|PubMed:23139746,ECO:0000269|PubMed:23912683, ECO:0000269|PubMed:23912718}.

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 ENDOV_RNF213


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 ENDOV_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
ENDOVBBS2, VWA8, CCT2, ANKRD40, PDCL, SEPHS2, RNF31, TSC22D3, APAF1, NOP9RNF213UBC, 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, CYLD


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


Top

RelatedDrugs for ENDOV_RNF213


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 ENDOV_RNF213


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRNF213C1846689MOYAMOYA DISEASE 23UNIPROT