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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: 31278

FusionGeneSummary for RIOK1_EYS

check button Fusion gene summary
Fusion gene informationFusion gene name: RIOK1_EYS
Fusion gene ID: 31278
HgeneTgene
Gene symbol

RIOK1

EYS

Gene ID

83732

346007

Gene nameRIO kinase 1eyes shut homolog (Drosophila)
SynonymsAD034|RIO1|RRP10|bA288G3.1C6orf178|C6orf179|C6orf180|EGFL10|EGFL11|RP25|SPAM|bA166P24.2|bA307F22.3|bA74E24.1|dJ1018A4.2|dJ22I17.2|dJ303F19.1
Cytomap

6p24.3

6q12

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein kinase RIO1protein eyes shut homologEGF-like-domain, multiple 10EGF-like-domain, multiple 11epidermal growth factor-like protein 10epidermal growth factor-like protein 11protein spacemaker homolog
Modification date2018052320180519
UniProtAcc

Q9BRS2

Q5T1H1

Ensembl transtripts involved in fusion geneENST00000379834, ENST00000503581, 
ENST00000370621, ENST00000370616, 
ENST00000393380, ENST00000342421, 
ENST00000370618, ENST00000486069, 
Fusion gene scores* DoF score2 X 2 X 2=826 X 15 X 12=4680
# samples 527
** MAII scorelog2(5/8*10)=2.64385618977472log2(27/4680*10)=-4.11547721741994
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RIOK1 [Title/Abstract] AND EYS [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

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
TCGARVCESCTCGA-ZJ-A8QQ-01ARIOK1chr6

7414623

+EYSchr6

66006012

-
TCGARVCESCTCGA-EK-A2H0-01ARIOK1chr6

7414623

+EYSchr6

66006012

-
* 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-shiftENST00000379834ENST00000503581RIOK1chr6

7414623

+EYSchr6

66006012

-
Frame-shiftENST00000379834ENST00000370621RIOK1chr6

7414623

+EYSchr6

66006012

-
Frame-shiftENST00000379834ENST00000370616RIOK1chr6

7414623

+EYSchr6

66006012

-
5CDS-intronENST00000379834ENST00000393380RIOK1chr6

7414623

+EYSchr6

66006012

-
5CDS-intronENST00000379834ENST00000342421RIOK1chr6

7414623

+EYSchr6

66006012

-
5CDS-intronENST00000379834ENST00000370618RIOK1chr6

7414623

+EYSchr6

66006012

-
5CDS-intronENST00000379834ENST00000486069RIOK1chr6

7414623

+EYSchr6

66006012

-

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FusionProtFeatures for RIOK1_EYS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RIOK1

Q9BRS2

EYS

Q5T1H1

Involved in the final steps of cytoplasmic maturation ofthe 40S ribosomal subunit. Involved in processing of 18S-E pre-rRNA to the mature 18S rRNA. Required for the recycling of NOB1and PNO1 from the late 40S precursor (PubMed:22072790). Theassociation with the very late 40S subunit intermediate mayinvolve a translation-like checkpoint point cycle preceeding thebinding to the 60S ribosomal subunit (By similarity). Despite theprotein kinase domain is proposed to act predominantly as anATPase (By similarity). The catalytic activity regulates itsdynamic association with the 40S subunit (By similarity). Inaddition to its role in ribosomal biogenesis acts as an adapterprotein by recruiting NCL/nucleolin the to PRMT5 complex for itssymmetrical methylation (PubMed:21081503).{ECO:0000250|UniProtKB:G0S3J5, ECO:0000250|UniProtKB:Q12196,ECO:0000269|PubMed:21081503, ECO:0000269|PubMed:22072790}.

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 RIOK1_EYS


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 RIOK1_EYS


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
RIOK1YWHAB, ELAVL1, EGFR, APP, EIF4A3, MAGOH, SMURF1, UBL4A, PAN2, FBXO6, PRMT5, WDR77, GAR1, RPS2, FBL, LPPR1, RBFOX2, TINAGL1, FAM177A1, NTRK1, MED4, MED20, MED23, POC1A, XPO1, EMC2, GAN, FBXW7, SNW1, RC3H1, CRBN, LSM6, SNRPN, CIRBP, FARP2, LACTB, RBFOX1, RPL15, WDYHV1, SNRNP200, PRPF8, SMU1, PRPF6, EFTUD2, UBE2AEYSEGFR


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 RIOK1_EYS


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 RIOK1_EYS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEYSC1864446Retinitis Pigmentosa 252CTD_human;UNIPROT
TgeneEYSC0035334Retinitis Pigmentosa1CTD_human;ORPHANET