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Fusion gene ID: 40919 |
FusionGeneSummary for URI1_RYR1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: URI1_RYR1 | Fusion gene ID: 40919 | Hgene | Tgene | Gene symbol | URI1 | RYR1 | Gene ID | 8725 | 6261 |
Gene name | URI1, prefoldin like chaperone | ryanodine receptor 1 | |
Synonyms | C19orf2|NNX3|PPP1R19|RMP|URI | CCO|MHS|MHS1|PPP1R137|RYDR|RYR|RYR-1|SKRR | |
Cytomap | 19q12 | 19q13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | unconventional prefoldin RPB5 interactor 1RNA polymerase II subunit 5-mediating proteinRPB5-mediating proteinprotein phosphatase 1, regulatory subunit 19 | ryanodine 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 date | 20180523 | 20180523 | |
UniProtAcc | O94763 | P21817 | |
Ensembl transtripts involved in fusion gene | ENST00000360605, ENST00000542441, ENST00000392271, ENST00000312051, ENST00000574176, | ENST00000355481, ENST00000360985, ENST00000359596, | |
Fusion gene scores | * DoF score | 22 X 6 X 12=1584 | 8 X 6 X 5=240 |
# samples | 23 | 8 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | URI1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12737519|15367675|21730289 |
Hgene | URI1 | GO:0001558 | regulation of cell growth | 21730289 |
Hgene | URI1 | GO:0071363 | cellular response to growth factor stimulus | 17936702 |
Hgene | URI1 | GO:0071383 | cellular response to steroid hormone stimulus | 21730289 |
Tgene | RYR1 | GO:0001666 | response to hypoxia | 19120137 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | LIHC | TCGA-CC-5260-01A | URI1 | chr19 | 30433571 | + | RYR1 | chr19 | 39038873 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3CDS | ENST00000360605 | ENST00000355481 | URI1 | chr19 | 30433571 | + | RYR1 | chr19 | 39038873 | + |
intron-3CDS | ENST00000360605 | ENST00000360985 | URI1 | chr19 | 30433571 | + | RYR1 | chr19 | 39038873 | + |
intron-3CDS | ENST00000360605 | ENST00000359596 | URI1 | chr19 | 30433571 | + | RYR1 | chr19 | 39038873 | + |
Frame-shift | ENST00000542441 | ENST00000355481 | URI1 | chr19 | 30433571 | + | RYR1 | chr19 | 39038873 | + |
Frame-shift | ENST00000542441 | ENST00000360985 | URI1 | chr19 | 30433571 | + | RYR1 | chr19 | 39038873 | + |
Frame-shift | ENST00000542441 | ENST00000359596 | URI1 | chr19 | 30433571 | + | RYR1 | chr19 | 39038873 | + |
5UTR-3CDS | ENST00000392271 | ENST00000355481 | URI1 | chr19 | 30433571 | + | RYR1 | chr19 | 39038873 | + |
5UTR-3CDS | ENST00000392271 | ENST00000360985 | URI1 | chr19 | 30433571 | + | RYR1 | chr19 | 39038873 | + |
5UTR-3CDS | ENST00000392271 | ENST00000359596 | URI1 | chr19 | 30433571 | + | RYR1 | chr19 | 39038873 | + |
Frame-shift | ENST00000312051 | ENST00000355481 | URI1 | chr19 | 30433571 | + | RYR1 | chr19 | 39038873 | + |
Frame-shift | ENST00000312051 | ENST00000360985 | URI1 | chr19 | 30433571 | + | RYR1 | chr19 | 39038873 | + |
Frame-shift | ENST00000312051 | ENST00000359596 | URI1 | chr19 | 30433571 | + | RYR1 | chr19 | 39038873 | + |
intron-3CDS | ENST00000574176 | ENST00000355481 | URI1 | chr19 | 30433571 | + | RYR1 | chr19 | 39038873 | + |
intron-3CDS | ENST00000574176 | ENST00000360985 | URI1 | chr19 | 30433571 | + | RYR1 | chr19 | 39038873 | + |
intron-3CDS | ENST00000574176 | ENST00000359596 | URI1 | chr19 | 30433571 | + | RYR1 | chr19 | 39038873 | + |
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FusionProtFeatures for URI1_RYR1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
URI1 | RYR1 |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for URI1_RYR1 |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
URI1 | DMAP1, 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, PPP2CA | RYR1 | TRDN, HOMER1, FKBP1A, RYR2, S100A1, HOMER2, HOMER3, ANK1, CALM1 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for URI1_RYR1 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | RYR1 | P21817 | DB00201 | Caffeine | Ryanodine receptor 1 | small molecule | approved |
Tgene | RYR1 | P21817 | DB01219 | Dantrolene | Ryanodine receptor 1 | small molecule | approved|investigational |
Tgene | RYR1 | P21817 | DB04786 | Suramin | Ryanodine receptor 1 | small molecule | approved|investigational |
Tgene | RYR1 | P21817 | DB09085 | Tetracaine | Ryanodine receptor 1 | small molecule | approved|vet_approved |
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RelatedDiseases for URI1_RYR1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | URI1 | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
Hgene | URI1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
Tgene | RYR1 | C0024591 | Malignant hyperpyrexia due to anesthesia | 49 | CTD_human;HPO;ORPHANET;UNIPROT |
Tgene | RYR1 | C0751951 | Central Core Myopathy (disorder) | 37 | CTD_human;ORPHANET;UNIPROT |
Tgene | RYR1 | C1850674 | MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) | 3 | CTD_human;ORPHANET;UNIPROT |
Tgene | RYR1 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
Tgene | RYR1 | C0752282 | Congenital Structural Myopathy | 1 | CTD_human |