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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: 32464

FusionGeneSummary for RYR3_AVEN

check button Fusion gene summary
Fusion gene informationFusion gene name: RYR3_AVEN
Fusion gene ID: 32464
HgeneTgene
Gene symbol

RYR3

AVEN

Gene ID

6263

57099

Gene nameryanodine receptor 3apoptosis and caspase activation inhibitor
SynonymsRYR-3PDCD12
Cytomap

15q13.3-q14

15q14

Type of geneprotein-codingprotein-coding
Descriptionryanodine receptor 3brain ryanodine receptor-calcium release channelbrain-type ryanodine receptortype 3 ryanodine receptorcell death regulator Avenapoptosis, caspase activation inhibitorprogrammed cell death 12
Modification date2018052320180519
UniProtAcc

Q15413

Q9NQS1

Ensembl transtripts involved in fusion geneENST00000415757, ENST00000389232, 
ENST00000559917, 
ENST00000306730, 
ENST00000558136, 
Fusion gene scores* DoF score4 X 4 X 4=644 X 2 X 4=32
# samples 44
** MAII scorelog2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RYR3 [Title/Abstract] AND AVEN [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
TgeneAVEN

GO:0043066

negative regulation of apoptotic process

10949025


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
TCGARVLUSCTCGA-43-8116-01ARYR3chr15

34049797

+AVENchr15

34168196

-
* 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-shitENST00000415757ENST00000306730RYR3chr15

34049797

+AVENchr15

34168196

-
5CDS-5UTRENST00000415757ENST00000558136RYR3chr15

34049797

+AVENchr15

34168196

-
Frame-shitENST00000389232ENST00000306730RYR3chr15

34049797

+AVENchr15

34168196

-
5CDS-5UTRENST00000389232ENST00000558136RYR3chr15

34049797

+AVENchr15

34168196

-
intron-3CDSENST00000559917ENST00000306730RYR3chr15

34049797

+AVENchr15

34168196

-
intron-5UTRENST00000559917ENST00000558136RYR3chr15

34049797

+AVENchr15

34168196

-

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FusionProtFeatures for RYR3_AVEN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RYR3

Q15413

AVEN

Q9NQS1

Calcium channel that mediates the release of Ca(2+) fromthe sarcoplasmic reticulum into the cytoplasm in muscle andthereby plays a role in triggering muscle contraction. Mayregulate Ca(2+) release by other calcium channels. Calcium channelthat mediates Ca(2+)-induced Ca(2+) release from the endoplasmicreticulum in non-muscle cells. Contributes to cellular calcium ionhomeostasis (By similarity). Plays a role in cellular calciumsignaling. {ECO:0000250, ECO:0000269|PubMed:12354756}. Protects against apoptosis mediated by Apaf-1.

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 RYR3_AVEN


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 RYR3_AVEN


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
RYR3RYR2, FKBP1A, CUL1, CFTR, HNF1A, BMI1, FKBP1BAVENBCL2L1, BCL2, APAF1, MOV10, NXF1, XPO1, HNRNPU, RPL10


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 RYR3_AVEN


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 RYR3_AVEN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneAVENC0007131Non-Small Cell Lung Carcinoma1CTD_human