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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: 40919

FusionGeneSummary for URI1_RYR1

check button Fusion gene summary
Fusion gene informationFusion gene name: URI1_RYR1
Fusion gene ID: 40919
HgeneTgene
Gene symbol

URI1

RYR1

Gene ID

8725

6261

Gene nameURI1, prefoldin like chaperoneryanodine receptor 1
SynonymsC19orf2|NNX3|PPP1R19|RMP|URICCO|MHS|MHS1|PPP1R137|RYDR|RYR|RYR-1|SKRR
Cytomap

19q12

19q13.2

Type of geneprotein-codingprotein-coding
Descriptionunconventional prefoldin RPB5 interactor 1RNA polymerase II subunit 5-mediating proteinRPB5-mediating proteinprotein phosphatase 1, regulatory subunit 19ryanodine receptor 1central core disease of muscleprotein phosphatase 1, regulatory subunit 137ryanodine receptor 1 (skeletal)sarcoplasmic reticulum calcium release channelskeletal muscle calcium release channelskeletal muscle ryanodine receptortyp
Modification date2018052320180523
UniProtAcc

O94763

P21817

Ensembl transtripts involved in fusion geneENST00000360605, ENST00000542441, 
ENST00000392271, ENST00000312051, 
ENST00000574176, 
ENST00000355481, 
ENST00000360985, ENST00000359596, 
Fusion gene scores* DoF score22 X 6 X 12=15848 X 6 X 5=240
# samples 238
** MAII scorelog2(23/1584*10)=-2.78386656913523
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: URI1 [Title/Abstract] AND RYR1 [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
HgeneURI1

GO:0000122

negative regulation of transcription by RNA polymerase II

12737519|15367675|21730289

HgeneURI1

GO:0001558

regulation of cell growth

21730289

HgeneURI1

GO:0071363

cellular response to growth factor stimulus

17936702

HgeneURI1

GO:0071383

cellular response to steroid hormone stimulus

21730289

TgeneRYR1

GO:0001666

response to hypoxia

19120137


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
TCGALDLIHCTCGA-CC-5260-01AURI1chr19

30433571

+RYR1chr19

39038873

+
* 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
intron-3CDSENST00000360605ENST00000355481URI1chr19

30433571

+RYR1chr19

39038873

+
intron-3CDSENST00000360605ENST00000360985URI1chr19

30433571

+RYR1chr19

39038873

+
intron-3CDSENST00000360605ENST00000359596URI1chr19

30433571

+RYR1chr19

39038873

+
Frame-shiftENST00000542441ENST00000355481URI1chr19

30433571

+RYR1chr19

39038873

+
Frame-shiftENST00000542441ENST00000360985URI1chr19

30433571

+RYR1chr19

39038873

+
Frame-shiftENST00000542441ENST00000359596URI1chr19

30433571

+RYR1chr19

39038873

+
5UTR-3CDSENST00000392271ENST00000355481URI1chr19

30433571

+RYR1chr19

39038873

+
5UTR-3CDSENST00000392271ENST00000360985URI1chr19

30433571

+RYR1chr19

39038873

+
5UTR-3CDSENST00000392271ENST00000359596URI1chr19

30433571

+RYR1chr19

39038873

+
Frame-shiftENST00000312051ENST00000355481URI1chr19

30433571

+RYR1chr19

39038873

+
Frame-shiftENST00000312051ENST00000360985URI1chr19

30433571

+RYR1chr19

39038873

+
Frame-shiftENST00000312051ENST00000359596URI1chr19

30433571

+RYR1chr19

39038873

+
intron-3CDSENST00000574176ENST00000355481URI1chr19

30433571

+RYR1chr19

39038873

+
intron-3CDSENST00000574176ENST00000360985URI1chr19

30433571

+RYR1chr19

39038873

+
intron-3CDSENST00000574176ENST00000359596URI1chr19

30433571

+RYR1chr19

39038873

+

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FusionProtFeatures for URI1_RYR1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
URI1

O94763

RYR1

P21817

Involved in gene transcription regulation. Acts as atranscriptional repressor in concert with the corepressor UXT toregulate androgen receptor (AR) transcription. May act as a tumorsuppressor to repress AR-mediated gene transcription and toinhibit anchorage-independent growth in prostate cancer cells.Required for cell survival in ovarian cancer cells. Together withUXT, associates with chromatin to the NKX3-1 promoter region.Antagonizes transcriptional modulation via hepatitis B virus Xprotein. Plays a central role in maintaining S6K1 signaling andBAD phosphorylation under normal growth conditions therebyprotecting cells from potential deleterious effects of sustainedS6K1 signaling. The URI1-PPP1CC complex acts as a centralcomponent of a negative feedback mechanism that counteractsexcessive S6K1 survival signaling to BAD in response to growthfactors. Mediates inhibition of PPP1CC phosphatase activity inmitochondria. Coordinates the regulation of nutrient-sensitivegene expression availability in a mTOR-dependent manner. Seems tobe a scaffolding protein able to assemble a prefoldin-like complexthat contains PFDs and proteins with roles in transcription andubiquitination. Calcium channel that mediates the release of Ca(2+) fromthe sarcoplasmic reticulum into the cytoplasm and thereby plays akey role in triggering muscle contraction following depolarizationof T-tubules (PubMed:11741831, PubMed:16163667). Repeated veryhigh-level exercise increases the open probability of the channeland leads to Ca(2+) leaking into the cytoplasm (PubMed:18268335).Can also mediate the release of Ca(2+) from intracellular storesin neurons, and may thereby promote prolonged Ca(2+) signaling inthe brain. Required for normal embryonic development of musclefibers and skeletal muscle. Required for normal heartmorphogenesis, skin development and ossification duringembryogenesis (By similarity). {ECO:0000250|UniProtKB:E9PZQ0,ECO:0000269|PubMed:18268335, ECO:0000305|PubMed:11741831,ECO:0000305|PubMed:16163667}.

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 URI1_RYR1


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 URI1_RYR1


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
URI1DMAP1, URI1, POLR2E, RPAP2, RPAP3, RUVBL2, GPN1, UXT, APP, HSP90AA1, PPP1CC, RPS6KB1, RUVBL1, TTI1, ATF7, ITCH, NEDD4, PIH1D1, PPP1CA, SCP2, SKAP1, PPP1R3A, PDRG1, BLM, KRAS, HERC2, OFD1, NPHP1, XPO1, PPP1CB, POLR1A, POLR3E, PPEF2, ASB7, PFDN2, ZBBX, PPP1R7, ZNHIT2, TBC1D7, TSC1, POLR1C, POLR2A, POLR2B, POLR3A, POLR3B, PRPF8, TANGO6, WDR92, LMNA, PFDN6, PKP3, POLR3D, YWHAB, POLR2H, GPN3, MAT2A, RPL12P2, SUPT6H, KRT18, PCBP2, NOP58, PPP2CB, TRIM28, NOC4L, ZC3HAV1, RPRD1B, POLR1D, DNAJA2, PFDN5, PPP2R1A, PPP2CARYR1TRDN, HOMER1, FKBP1A, RYR2, S100A1, HOMER2, HOMER3, ANK1, CALM1


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 URI1_RYR1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneRYR1P21817DB00201CaffeineRyanodine receptor 1small moleculeapproved
TgeneRYR1P21817DB01219DantroleneRyanodine receptor 1small moleculeapproved|investigational
TgeneRYR1P21817DB04786SuraminRyanodine receptor 1small moleculeapproved|investigational
TgeneRYR1P21817DB09085TetracaineRyanodine receptor 1small moleculeapproved|vet_approved

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RelatedDiseases for URI1_RYR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneURI1C0027659Neoplasms, Experimental1CTD_human
HgeneURI1C0919267ovarian neoplasm1CTD_human
TgeneRYR1C0024591Malignant hyperpyrexia due to anesthesia49CTD_human;HPO;ORPHANET;UNIPROT
TgeneRYR1C0751951Central Core Myopathy (disorder)37CTD_human;ORPHANET;UNIPROT
TgeneRYR1C1850674MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)3CTD_human;ORPHANET;UNIPROT
TgeneRYR1C0007134Renal Cell Carcinoma1CTD_human
TgeneRYR1C0752282Congenital Structural Myopathy1CTD_human