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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:URI1-RYR1 (FusionGDB2 ID:96422)

Fusion Gene Summary for URI1-RYR1

check button Fusion gene summary
Fusion gene informationFusion gene name: URI1-RYR1
Fusion gene ID: 96422
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 date2020031320200328
UniProtAcc

O94763

.
Ensembl transtripts involved in fusion geneENST00000360605, ENST00000542441, 
ENST00000392271, ENST00000312051, 
ENST00000574176, 		ENST00000355481, 
ENST00000360985, ENST00000359596, 
Fusion gene scores* DoF score30 X 13 X 12=468011 X 9 X 5=495
# samples 4011
** MAII scorelog2(40/4680*10)=-3.54843662469604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/495*10)=-2.16992500144231
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]

Most frequent breakpointURI1(30433571)-RYR1(39038873), # samples:1
Anticipated loss of major functional domain due to fusion event.URI1-RYR1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
URI1-RYR1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
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 buttonFusion gene breakpoints across URI1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across RYR1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4LIHCTCGA-CC-5260-01AURI1chr19

30433571

+RYR1chr19

39038873

+


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Fusion Gene ORF analysis for URI1-RYR1

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

+

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 URI1-RYR1


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)
URI1chr1930433571+RYR1chr1939038872+1.15E-151
URI1chr1930433571+RYR1chr1939038872+1.15E-151

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.

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.

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Fusion Protein Features for URI1-RYR1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

O94763

.
FUNCTION: Involved in gene transcription regulation. Acts as a transcriptional repressor in concert with the corepressor UXT to regulate androgen receptor (AR) transcription. May act as a tumor suppressor to repress AR-mediated gene transcription and to inhibit anchorage-independent growth in prostate cancer cells. Required for cell survival in ovarian cancer cells. Together with UXT, associates with chromatin to the NKX3-1 promoter region. Antagonizes transcriptional modulation via hepatitis B virus X protein.; FUNCTION: Plays a central role in maintaining S6K1 signaling and BAD phosphorylation under normal growth conditions thereby protecting cells from potential deleterious effects of sustained S6K1 signaling. The URI1-PPP1CC complex acts as a central component of a negative feedback mechanism that counteracts excessive S6K1 survival signaling to BAD in response to growth factors. Mediates inhibition of PPP1CC phosphatase activity in mitochondria. Coordinates the regulation of nutrient-sensitive gene expression availability in a mTOR-dependent manner. Seems to be a scaffolding protein able to assemble a prefoldin-like complex that contains PFDs and proteins with roles in transcription and ubiquitination.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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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Fusion Gene Sequence for URI1-RYR1


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 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


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 URI1-RYR1


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 URI1-RYR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneURI1C0007097Carcinoma1CTD_human
HgeneURI1C0027659Neoplasms, Experimental1CTD_human
HgeneURI1C0205696Anaplastic carcinoma1CTD_human
HgeneURI1C0205697Carcinoma, Spindle-Cell1CTD_human
HgeneURI1C0205698Undifferentiated carcinoma1CTD_human
HgeneURI1C0205699Carcinomatosis1CTD_human
HgeneURI1C0919267ovarian neoplasm1CTD_human
HgeneURI1C1140680Malignant neoplasm of ovary1CTD_human
TgeneRYR1C2930980Malignant hyperthermia susceptibility type 146CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneRYR1C0751951Central Core Myopathy (disorder)32CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneRYR1C0024591Malignant hyperpyrexia due to anesthesia10CTD_human;GENOMICS_ENGLAND
TgeneRYR1C1850674MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneRYR1C1840365King Denborough syndrome2ORPHANET
TgeneRYR1C3645536Autosomal Recessive Centronuclear Myopathy2CTD_human;ORPHANET
TgeneRYR1C0007134Renal Cell Carcinoma1CTD_human
TgeneRYR1C0008928Cleidocranial Dysplasia1GENOMICS_ENGLAND
TgeneRYR1C0175709Centronuclear myopathy1CTD_human
TgeneRYR1C0265261Multiple pterygium syndrome1GENOMICS_ENGLAND
TgeneRYR1C0270960Congenital myopathy (disorder)1GENOMICS_ENGLAND
TgeneRYR1C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneRYR1C0410203X-linked centronuclear myopathy1CTD_human
TgeneRYR1C0410204Myopathy, Centronuclear, Autosomal Recessive1ORPHANET
TgeneRYR1C0410207Tubular Aggregate Myopathy1CTD_human
TgeneRYR1C0546264Congenital Fiber Type Disproportion1CTD_human
TgeneRYR1C0752282Congenital Structural Myopathy1CTD_human
TgeneRYR1C1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneRYR1C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneRYR1C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneRYR1C1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneRYR1C1834558Myopathy, Centronuclear, Autosomal Dominant1CTD_human;ORPHANET
TgeneRYR1C1854678MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE1ORPHANET
TgeneRYR1C1861753Multiminicore Disease, Moderate, with Hand Involvement1ORPHANET
TgeneRYR1C3661489Autosomal Dominant Myotubular Myopathy1CTD_human
TgeneRYR1C4551952Myopathy, Centronuclear, 11CTD_human
TgeneRYR1C4706390Congenital myopathy with myasthenic-like onset1ORPHANET
TgeneRYR1C4749502Benign Samaritan congenital myopathy1ORPHANET