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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: 13154

FusionGeneSummary for FBXO27_RYR1

check button Fusion gene summary
Fusion gene informationFusion gene name: FBXO27_RYR1
Fusion gene ID: 13154
HgeneTgene
Gene symbol

FBXO27

RYR1

Gene ID

126433

6261

Gene nameF-box protein 27ryanodine receptor 1
SynonymsFBG5|Fbx27CCO|MHS|MHS1|PPP1R137|RYDR|RYR|RYR-1|SKRR
Cytomap

19q13.2

19q13.2

Type of geneprotein-codingprotein-coding
DescriptionF-box only protein 27F-box protein FBG5F-box/G-domain protein 5ryanodine 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 date2018052720180523
UniProtAcc

Q8NI29

P21817

Ensembl transtripts involved in fusion geneENST00000509137, ENST00000292853, 
ENST00000600828, 		ENST00000355481, 
ENST00000360985, ENST00000359596, 
Fusion gene scores* DoF score2 X 2 X 2=88 X 6 X 5=240
# samples 28
** MAII scorelog2(2/8*10)=1.32192809488736log2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FBXO27 [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
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
TCGALDGBMTCGA-32-1970-01AFBXO27chr19

39517510

-RYR1chr19

39033987

+
* 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-shiftENST00000509137ENST00000355481FBXO27chr19

39517510

-RYR1chr19

39033987

+
Frame-shiftENST00000509137ENST00000360985FBXO27chr19

39517510

-RYR1chr19

39033987

+
Frame-shiftENST00000509137ENST00000359596FBXO27chr19

39517510

-RYR1chr19

39033987

+
Frame-shiftENST00000292853ENST00000355481FBXO27chr19

39517510

-RYR1chr19

39033987

+
Frame-shiftENST00000292853ENST00000360985FBXO27chr19

39517510

-RYR1chr19

39033987

+
Frame-shiftENST00000292853ENST00000359596FBXO27chr19

39517510

-RYR1chr19

39033987

+
Frame-shiftENST00000600828ENST00000355481FBXO27chr19

39517510

-RYR1chr19

39033987

+
Frame-shiftENST00000600828ENST00000360985FBXO27chr19

39517510

-RYR1chr19

39033987

+
Frame-shiftENST00000600828ENST00000359596FBXO27chr19

39517510

-RYR1chr19

39033987

+

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FusionProtFeatures for FBXO27_RYR1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FBXO27

Q8NI29

RYR1

P21817

Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Able to recognizeand bind denatured glycoproteins, which are modified with complex-type oligosaccharides. {ECO:0000269|PubMed:18203720}. 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 FBXO27_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 FBXO27_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
FBXO27STUB1, MGMT, ELAVL1, CUL1, SKP1, RBX1, HSP90AA1, CLN5, CLU, NELL1RYR1TRDN, 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 FBXO27_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 FBXO27_RYR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
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