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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:ENDOV-RNF213 (FusionGDB2 ID:HG284131TG57674)

Fusion Gene Summary for ENDOV-RNF213

check button Fusion gene summary
Fusion gene informationFusion gene name: ENDOV-RNF213
Fusion gene ID: hg284131tg57674
HgeneTgene
Gene symbol

ENDOV

RNF213

Gene ID

284131

57674

Gene nameendonuclease Vring finger protein 213
Synonyms-ALO17|C17orf27|KIAA1618|MYMY2|MYSTR|NET57
Cytomap('ENDOV')('RNF213')

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 date2020031320200313
UniProtAcc

Q8N8Q3

Q63HN8

Ensembl transtripts involved in fusion geneENST00000323854, ENST00000517295, 
ENST00000517795, ENST00000518137, 
ENST00000518901, ENST00000520367, 
ENST00000522751, ENST00000518644, 
ENST00000518907, ENST00000520284, 
ENST00000521847, ENST00000523999, 
Fusion gene scores* DoF score4 X 4 X 3=4817 X 18 X 7=2142
# samples 420
** MAII scorelog2(4/48*10)=-0.263034405833794
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: ENDOV [Title/Abstract] AND RNF213 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointENDOV(78403631)-RNF213(78362412), # samples:2
Anticipated loss of major functional domain due to fusion event.ENDOV-RNF213 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ENDOV-RNF213 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ENDOV-RNF213 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ENDOV-RNF213 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ENDOV-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
TgeneRNF213

GO:0016567

protein ubiquitination

21799892

TgeneRNF213

GO:0051260

protein homooligomerization

24658080|26126547

TgeneRNF213

GO:0051865

protein autoubiquitination

21799892


check buttonFusion gene breakpoints across ENDOV (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
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.
all structure

check button Fusion gene information
* 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
ChimerDB4OVTCGA-61-1910-01AENDOVchr17

78403631

+RNF213chr17

78362412

+


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Fusion Gene ORF analysis for ENDOV-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-3UTRENST00000323854ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-3UTRENST00000517295ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-3UTRENST00000517795ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-3UTRENST00000518137ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-3UTRENST00000518901ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-3UTRENST00000520367ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-3UTRENST00000522751ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000323854ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000323854ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000323854ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000323854ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000517295ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000517295ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000517295ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000517295ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000517795ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000517795ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000517795ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000517795ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000518137ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000518137ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000518137ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000518137ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000518901ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000518901ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000518901ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000518901ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000520367ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000520367ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000520367ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000520367ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000522751ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000522751ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000522751ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
5CDS-intronENST00000522751ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
Frame-shiftENST00000517295ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
Frame-shiftENST00000517795ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
Frame-shiftENST00000518137ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
Frame-shiftENST00000518901ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
Frame-shiftENST00000520367ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
Frame-shiftENST00000522751ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
In-frameENST00000323854ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-3CDSENST00000518644ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-3CDSENST00000518907ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-3CDSENST00000520284ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-3CDSENST00000521847ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-3CDSENST00000523999ENST00000508628ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-3UTRENST00000518644ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-3UTRENST00000518907ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-3UTRENST00000520284ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-3UTRENST00000521847ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-3UTRENST00000523999ENST00000427003ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000518644ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000518644ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000518644ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000518644ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000518907ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000518907ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000518907ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000518907ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000520284ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000520284ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000520284ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000520284ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000521847ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000521847ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000521847ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000521847ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000523999ENST00000319921ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000523999ENST00000336301ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000523999ENST00000456466ENDOVchr17

78403631

+RNF213chr17

78362412

+
intron-intronENST00000523999ENST00000582970ENDOVchr17

78403631

+RNF213chr17

78362412

+

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 ENDOV-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)
ENDOVchr1778403631+RNF213chr1778362411+0.0012644730.9987355
ENDOVchr1778403631+RNF213chr1778362411+0.0012644730.9987355

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.
genomic feature

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 ENDOV-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/chr17:78403631/chr17:78362412)
- 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
ENDOV

Q8N8Q3

RNF213

Q63HN8

FUNCTION: [Isoform 1]: Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3' to inosine (PubMed:23912683, PubMed:23912718, PubMed:27573237, PubMed:31703097, PubMed:25195743). Active against both single-stranded and double-stranded RNAs (PubMed:31703097, PubMed:25195743). Has strong preference for single-stranded RNAs (ssRNAs) toward double-stranded RNAs (dsRNAs) (PubMed:23912718). Cleaves mRNAs and tRNAs containing inosine (PubMed:23912683, PubMed:31703097). Also able to cleave structure-specific dsRNA substrates containing the specific sites 5'-IIUI-3' and 5'-UIUU-3' (PubMed:23912718, PubMed:27573237). Inosine is present in a number of RNAs following editing; the function of inosine-specific endoribonuclease is still unclear: it could either play a regulatory role in edited RNAs, or be involved in antiviral response by removing the hyperedited long viral dsRNA genome that has undergone A-to-I editing (Probable). Binds branched DNA structures (PubMed:23139746). {ECO:0000269|PubMed:23139746, ECO:0000269|PubMed:23912683, ECO:0000269|PubMed:23912718, ECO:0000269|PubMed:25195743, ECO:0000269|PubMed:27573237, ECO:0000269|PubMed:31703097, ECO:0000305}.; FUNCTION: [Isoform 6]: Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3' to inosine (PubMed:31703097). Active against both single-stranded and double-stranded RNAs (PubMed:31703097). Cleaves tRNAs containing inosine (PubMed:31703097). {ECO:0000269|PubMed:31703097}.; FUNCTION: [Isoform 7]: Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3' to inosine (PubMed:31703097). Active against both single-stranded and double-stranded RNAs (PubMed:31703097). Cleaves tRNAs containing inosine (PubMed:31703097). {ECO:0000269|PubMed:31703097}.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
HgeneENDOVchr17:78403631chr17:78362412ENST00000518137+910225_228279283.0Compositional biasNote=Poly-Cys
HgeneENDOVchr17:78403631chr17:78362412ENST00000520367+89225_228234238.0Compositional biasNote=Poly-Cys
TgeneRNF213chr17:78403631chr17:78362412ENST00000319921017343_37401064.0Coiled coilOntology_term=ECO:0000255
TgeneRNF213chr17:78403631chr17:78362412ENST000003199210173997_403601064.0Zinc fingerRING-type

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneENDOVchr17:78403631chr17:78362412ENST00000323854+18225_2280265.0Compositional biasNote=Poly-Cys
HgeneENDOVchr17:78403631chr17:78362412ENST00000517795+67225_2288589.0Compositional biasNote=Poly-Cys
HgeneENDOVchr17:78403631chr17:78362412ENST00000518901+78225_2288589.0Compositional biasNote=Poly-Cys
HgeneENDOVchr17:78403631chr17:78362412ENST00000518907+15225_228066.0Compositional biasNote=Poly-Cys
HgeneENDOVchr17:78403631chr17:78362412ENST00000520284+16225_228066.0Compositional biasNote=Poly-Cys
TgeneRNF213chr17:78403631chr17:78362412ENST000005086286369343_37450235257.0Coiled coilOntology_term=ECO:0000255
TgeneRNF213chr17:78403631chr17:78362412ENST000005829706268343_37449745208.0Coiled coilOntology_term=ECO:0000255
TgeneRNF213chr17:78403631chr17:78362412ENST0000050862863693997_403650235257.0Zinc fingerRING-type
TgeneRNF213chr17:78403631chr17:78362412ENST0000058297062683997_403649745208.0Zinc fingerRING-type


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Fusion Gene Sequence for ENDOV-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 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


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 ENDOV-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 ENDOV-RNF213


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC1846689MOYAMOYA DISEASE 29CTD_human;UNIPROT
TgeneC0026654Moyamoya Disease3ORPHANET
TgeneC2931384Moyamoya disease 13ORPHANET