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Fusion gene ID: 32465 |
FusionGeneSummary for RYR3_BUB1B |
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Fusion gene information | Fusion gene name: RYR3_BUB1B | Fusion gene ID: 32465 | Hgene | Tgene | Gene symbol | RYR3 | BUB1B | Gene ID | 6263 | 701 |
Gene name | ryanodine receptor 3 | BUB1 mitotic checkpoint serine/threonine kinase B | |
Synonyms | RYR-3 | BUB1beta|BUBR1|Bub1A|MAD3L|MVA1|SSK1|hBUBR1 | |
Cytomap | 15q13.3-q14 | 15q15.1 | |
Type of gene | protein-coding | protein-coding | |
Description | ryanodine receptor 3brain ryanodine receptor-calcium release channelbrain-type ryanodine receptortype 3 ryanodine receptor | mitotic checkpoint serine/threonine-protein kinase BUB1 betaBUB1B, mitotic checkpoint serine/threonine kinaseMAD3/BUB1-related protein kinasebudding uninhibited by benzimidazoles 1 homolog betamitotic checkpoint kinase MAD3L | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q15413 | O60566 | |
Ensembl transtripts involved in fusion gene | ENST00000415757, ENST00000389232, ENST00000559917, | ENST00000287598, ENST00000412359, ENST00000560120, | |
Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 5 X 4 X 4=80 |
# samples | 4 | 4 | |
** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/80*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: RYR3 [Title/Abstract] AND BUB1B [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | RV | LGG | TCGA-E1-A7YL-01A | RYR3 | chr15 | 33765739 | + | BUB1B | chr15 | 40457254 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
Frame-shift | ENST00000415757 | ENST00000287598 | RYR3 | chr15 | 33765739 | + | BUB1B | chr15 | 40457254 | + |
Frame-shift | ENST00000415757 | ENST00000412359 | RYR3 | chr15 | 33765739 | + | BUB1B | chr15 | 40457254 | + |
5CDS-intron | ENST00000415757 | ENST00000560120 | RYR3 | chr15 | 33765739 | + | BUB1B | chr15 | 40457254 | + |
Frame-shift | ENST00000389232 | ENST00000287598 | RYR3 | chr15 | 33765739 | + | BUB1B | chr15 | 40457254 | + |
Frame-shift | ENST00000389232 | ENST00000412359 | RYR3 | chr15 | 33765739 | + | BUB1B | chr15 | 40457254 | + |
5CDS-intron | ENST00000389232 | ENST00000560120 | RYR3 | chr15 | 33765739 | + | BUB1B | chr15 | 40457254 | + |
intron-3CDS | ENST00000559917 | ENST00000287598 | RYR3 | chr15 | 33765739 | + | BUB1B | chr15 | 40457254 | + |
intron-3CDS | ENST00000559917 | ENST00000412359 | RYR3 | chr15 | 33765739 | + | BUB1B | chr15 | 40457254 | + |
intron-intron | ENST00000559917 | ENST00000560120 | RYR3 | chr15 | 33765739 | + | BUB1B | chr15 | 40457254 | + |
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FusionProtFeatures for RYR3_BUB1B |
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Hgene | Tgene |
RYR3 | BUB1B |
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}. |
![]() * 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 RYR3_BUB1B |
![]() (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_BUB1B |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
RYR3 | RYR2, FKBP1A, CUL1, CFTR, HNF1A, BMI1, FKBP1B | BUB1B | HDAC1, BRCA2, SNCG, CDC20, BUB3, MAD2L1, CENPE, AP2B1, APC, CDC27, CDC16, ANAPC7, UBE2C, PARP1, KAT2B, ANAPC4, BUB1, MIS12, ZWINT, BUB1B, NSL1, DNMBP, MXI1, MDM2, MAD2L1BP, PLK1, TUBB, CASC5, TP73, AJUBA, AURKB, PLK3, PTTG1, SGOL1, DAXX, FZR1, TRIM33, COMMD4, GANAB, PRKCSH, PNMA2, UGP2, TRIP13, SUMO1, ANAPC1, ANAPC2, BAG2, DSN1, ZFC3H1, CCT2, EEF2, HSPB1, HSPH1, NDC80, NUF2, PMF1, PSMA3, PSMA4, PSMA6, PSMB5, PSMD6, RPL39, SKIV2L2, RAE1, UBR5, CCNA2, FBXW7, BTRC, MED4, XPO1, CD14, CDC23, SMEK1, CERK, ANAPC10, NEK2, SNW1, CDC5L, PPP2R5A, TYW3, HDAC2, HDAC3 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for RYR3_BUB1B |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for RYR3_BUB1B |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | BUB1B | C0018273 | Growth Disorders | 1 | CTD_human |
Tgene | BUB1B | C0025958 | Microcephaly | 1 | CTD_human |
Tgene | BUB1B | C0206656 | Rhabdomyosarcoma, Embryonal | 1 | CTD_human |
Tgene | BUB1B | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
Tgene | BUB1B | C1850343 | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME | 1 | CTD_human;ORPHANET;UNIPROT |
Tgene | BUB1B | C1864389 | PREMATURE CHROMATID SEPARATION TRAIT | 1 | CTD_human;UNIPROT |