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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: 31528

FusionGeneSummary for RNF213_RPTOR

check button Fusion gene summary
Fusion gene informationFusion gene name: RNF213_RPTOR
Fusion gene ID: 31528
HgeneTgene
Gene symbol

RNF213

RPTOR

Gene ID

57674

57521

Gene namering finger protein 213regulatory associated protein of MTOR complex 1
SynonymsALO17|C17orf27|KIAA1618|MYMY2|MYSTR|NET57KOG1|Mip1
Cytomap

17q25.3

17q25.3

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase RNF213ALK lymphoma oligomerization partner on chromosome 17RING-type E3 ubiquitin transferase RNF213mysterinregulatory-associated protein of mTORp150 target of rapamycin (TOR)-scaffold protein containing WD-repeatsraptor
Modification date2018052720180523
UniProtAcc

Q63HN8

Q8N122

Ensembl transtripts involved in fusion geneENST00000508628, ENST00000456466, 
ENST00000582970, ENST00000319921, 
ENST00000336301, ENST00000427003, 
ENST00000537330, ENST00000570891, 
ENST00000306801, ENST00000544334, 
ENST00000575542, 
Fusion gene scores* DoF score22 X 22 X 12=580813 X 11 X 10=1430
# samples 3014
** MAII scorelog2(30/5808*10)=-4.27500704749987
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/1430*10)=-3.35251641472079
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Functional or gene categories assigned by FusionGDB annotation
* 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

TgeneRPTOR

GO:0031929

TOR signaling

20381137

TgeneRPTOR

GO:0032008

positive regulation of TOR signaling

12150926|18439900

TgeneRPTOR

GO:0071233

cellular response to leucine

22424946

TgeneRPTOR

GO:0071902

positive regulation of protein serine/threonine kinase activity

12150926


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
TCGALDKIRCTCGA-BP-5198-01ARNF213chr17

78286967

+RPTORchr17

78599491

+
* 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
5CDS-5UTRENST00000508628ENST00000537330RNF213chr17

78286967

+RPTORchr17

78599491

+
5CDS-5UTRENST00000508628ENST00000570891RNF213chr17

78286967

+RPTORchr17

78599491

+
5CDS-5UTRENST00000508628ENST00000306801RNF213chr17

78286967

+RPTORchr17

78599491

+
5CDS-5UTRENST00000508628ENST00000544334RNF213chr17

78286967

+RPTORchr17

78599491

+
5CDS-intronENST00000508628ENST00000575542RNF213chr17

78286967

+RPTORchr17

78599491

+
5CDS-5UTRENST00000456466ENST00000537330RNF213chr17

78286967

+RPTORchr17

78599491

+
5CDS-5UTRENST00000456466ENST00000570891RNF213chr17

78286967

+RPTORchr17

78599491

+
5CDS-5UTRENST00000456466ENST00000306801RNF213chr17

78286967

+RPTORchr17

78599491

+
5CDS-5UTRENST00000456466ENST00000544334RNF213chr17

78286967

+RPTORchr17

78599491

+
5CDS-intronENST00000456466ENST00000575542RNF213chr17

78286967

+RPTORchr17

78599491

+
5CDS-5UTRENST00000582970ENST00000537330RNF213chr17

78286967

+RPTORchr17

78599491

+
5CDS-5UTRENST00000582970ENST00000570891RNF213chr17

78286967

+RPTORchr17

78599491

+
5CDS-5UTRENST00000582970ENST00000306801RNF213chr17

78286967

+RPTORchr17

78599491

+
5CDS-5UTRENST00000582970ENST00000544334RNF213chr17

78286967

+RPTORchr17

78599491

+
5CDS-intronENST00000582970ENST00000575542RNF213chr17

78286967

+RPTORchr17

78599491

+
5CDS-5UTRENST00000319921ENST00000537330RNF213chr17

78286967

+RPTORchr17

78599491

+
5CDS-5UTRENST00000319921ENST00000570891RNF213chr17

78286967

+RPTORchr17

78599491

+
5CDS-5UTRENST00000319921ENST00000306801RNF213chr17

78286967

+RPTORchr17

78599491

+
5CDS-5UTRENST00000319921ENST00000544334RNF213chr17

78286967

+RPTORchr17

78599491

+
5CDS-intronENST00000319921ENST00000575542RNF213chr17

78286967

+RPTORchr17

78599491

+
intron-5UTRENST00000336301ENST00000537330RNF213chr17

78286967

+RPTORchr17

78599491

+
intron-5UTRENST00000336301ENST00000570891RNF213chr17

78286967

+RPTORchr17

78599491

+
intron-5UTRENST00000336301ENST00000306801RNF213chr17

78286967

+RPTORchr17

78599491

+
intron-5UTRENST00000336301ENST00000544334RNF213chr17

78286967

+RPTORchr17

78599491

+
intron-intronENST00000336301ENST00000575542RNF213chr17

78286967

+RPTORchr17

78599491

+
intron-5UTRENST00000427003ENST00000537330RNF213chr17

78286967

+RPTORchr17

78599491

+
intron-5UTRENST00000427003ENST00000570891RNF213chr17

78286967

+RPTORchr17

78599491

+
intron-5UTRENST00000427003ENST00000306801RNF213chr17

78286967

+RPTORchr17

78599491

+
intron-5UTRENST00000427003ENST00000544334RNF213chr17

78286967

+RPTORchr17

78599491

+
intron-intronENST00000427003ENST00000575542RNF213chr17

78286967

+RPTORchr17

78599491

+

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FusionProtFeatures for RNF213_RPTOR


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

Q63HN8

RPTOR

Q8N122

Involved in the control of the mammalian target ofrapamycin complex 1 (mTORC1) activity which regulates cell growthand survival, and autophagy in response to nutrient and hormonalsignals; functions as a scaffold for recruiting mTORC1 substrates.mTORC1 is activated in response to growth factors or amino acids.Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to theactivation of the RHEB GTPase that potently activates the proteinkinase activity of mTORC1. Amino acid-signaling to mTORC1 requiresits relocalization to the lysosomes mediated by the Ragulatorcomplex and the Rag GTPases. Activated mTORC1 up-regulates proteinsynthesis by phosphorylating key regulators of mRNA translationand ribosome synthesis. mTORC1 phosphorylates EIF4EBP1 andreleases it from inhibiting the elongation initiation factor 4E(eiF4E). mTORC1 phosphorylates and activates S6K1 at 'Thr-389',which then promotes protein synthesis by phosphorylating PDCD4 andtargeting it for degradation. Involved in ciliogenesis.{ECO:0000269|PubMed:12150925, ECO:0000269|PubMed:12150926,ECO:0000269|PubMed:23727834}.

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_RPTOR


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_RPTOR


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, CYLDRPTORMTOR, FKBP1A, EIF4EBP1, GDI2P1, PLD2, RPS6KB1, PDK1, RHEB, EIF3B, EIF3C, MLST8, RRAGA, RRAGC, RPS6, TIRAP, IQGAP1, USP9X, PRKAA1, PRKAA2, YWHAQ, SQSTM1, RRAGB, MAPK8, ICK, CCNB1, AKT1S1, DEPTOR, IRS1, EIF4E, MAPK3, MAPK1, HSPA4, ULK1, RICTOR, RPS6KA1, IRS2, RRAGD, HIF1A, CUL4A, CUL4B, DDB1, UCHL1, SIRT1, PREX1, LARS, RPTOR, AKT1, PDIA3, MARK4, AMBRA1, TRAF6, FKBP8, GNB1, GNG2, RAP1B, CHUK, IKBKB, IKBKG, SGK1, MOV10, NXF1, LAMTOR2, GTF3C1, TXNDC15, NT5E, BAG3, FAF2, HTR6, EIF4EBP2, SCAP, NTRK1, XPO1, RAB1A, PARK2, BRAT1, MTMR3, NFATC1, NFATC2, ZNRF2, INTU, IQCF1, CD79B, TPP1, CCT7, DKKL1, IL13RA2, PDCD1, TRIB2, PMEL, BRAF, NTRK3, CT55, CCDC6, KCTD3, KIF13B, ZBTB21, KSR1, GIGYF1, LRFN1, CGN, DENND1A, SH3PXD2A, SRGAP2, RTKN, MAST3, DENND4C, EIF4E2, SIPA1L1, PPM1H, LIMA1, MAGI1, TESK2, DCLK1, ZNF638, LPIN3, CBY1, INPP5E, ESR1, TRIM25, BRCA1, EP300


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_RPTOR


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_RPTOR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRNF213C1846689MOYAMOYA DISEASE 23UNIPROT
TgeneRPTORC0040336Tobacco Use Disorder1CTD_human