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Fusion gene ID: 4252 |
FusionGeneSummary for BMPR1B_MCC |
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Fusion gene information | Fusion gene name: BMPR1B_MCC | Fusion gene ID: 4252 | Hgene | Tgene | Gene symbol | BMPR1B | MCC | Gene ID | 658 | 4163 |
Gene name | bone morphogenetic protein receptor type 1B | MCC, WNT signaling pathway regulator | |
Synonyms | ALK-6|ALK6|AMDD|BDA1D|BDA2|CDw293 | MCC1 | |
Cytomap | 4q22.3 | 5q22.2 | |
Type of gene | protein-coding | protein-coding | |
Description | bone morphogenetic protein receptor type-1BBMP type-1B receptorBMPR-1Bactivin receptor-like kinase 6bone morphogenetic protein receptor, type IBserine/threonine receptor kinase | colorectal mutant cancer proteinmutated in colorectal cancers | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | O00238 | P23508 | |
Ensembl transtripts involved in fusion gene | ENST00000515059, ENST00000440890, ENST00000264568, ENST00000394931, ENST00000502683, | ENST00000302475, ENST00000514701, ENST00000515367, ENST00000408903, | |
Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 7 X 8 X 5=280 |
# samples | 6 | 8 | |
** MAII score | log2(6/80*10)=-0.415037499278844 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/280*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: BMPR1B [Title/Abstract] AND MCC [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 |
Hgene | BMPR1B | GO:0006468 | protein phosphorylation | 12065756 |
Hgene | BMPR1B | GO:0030509 | BMP signaling pathway | 18436533 |
Tgene | MCC | GO:0045184 | establishment of protein localization | 18591935 |
Tgene | MCC | GO:0050680 | negative regulation of epithelial cell proliferation | 18591935 |
Tgene | MCC | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 18591935 |
![]() (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 | BRCA | TCGA-A2-A0ET-01A | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
* 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 |
5UTR-3CDS | ENST00000515059 | ENST00000302475 | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
5UTR-5UTR | ENST00000515059 | ENST00000514701 | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
5UTR-5UTR | ENST00000515059 | ENST00000515367 | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
5UTR-5UTR | ENST00000515059 | ENST00000408903 | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
intron-3CDS | ENST00000440890 | ENST00000302475 | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
intron-5UTR | ENST00000440890 | ENST00000514701 | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
intron-5UTR | ENST00000440890 | ENST00000515367 | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
intron-5UTR | ENST00000440890 | ENST00000408903 | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
intron-3CDS | ENST00000264568 | ENST00000302475 | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
intron-5UTR | ENST00000264568 | ENST00000514701 | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
intron-5UTR | ENST00000264568 | ENST00000515367 | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
intron-5UTR | ENST00000264568 | ENST00000408903 | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
intron-3CDS | ENST00000394931 | ENST00000302475 | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
intron-5UTR | ENST00000394931 | ENST00000514701 | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
intron-5UTR | ENST00000394931 | ENST00000515367 | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
intron-5UTR | ENST00000394931 | ENST00000408903 | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
intron-3CDS | ENST00000502683 | ENST00000302475 | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
intron-5UTR | ENST00000502683 | ENST00000514701 | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
intron-5UTR | ENST00000502683 | ENST00000515367 | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
intron-5UTR | ENST00000502683 | ENST00000408903 | BMPR1B | chr4 | 95917285 | + | MCC | chr5 | 112406931 | - |
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FusionProtFeatures for BMPR1B_MCC |
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Hgene | Tgene |
BMPR1B | MCC |
On ligand binding, forms a receptor complex consistingof two type II and two type I transmembrane serine/threoninekinases. Type II receptors phosphorylate and activate type Ireceptors which autophosphorylate, then bind and activate SMADtranscriptional regulators. Receptor for BMP7/OP-1 and GDF5.Positively regulates chondrocyte differentiation through GDF5interaction. {ECO:0000250|UniProtKB:P36898}. | Candidate for the putative colorectal tumor suppressorgene located at 5q21. Suppresses cell proliferation and the Wnt/b-catenin pathway in colorectal cancer cells. Inhibits DNA bindingof b-catenin/TCF/LEF transcription factors. Involved in cellmigration independently of RAC1, CDC42 and p21-activated kinase(PAK) activation (PubMed:18591935, PubMed:19555689,PubMed:22480440). Represses the beta-catenin pathway (canonicalWnt signaling pathway) in a CCAR2-dependent manner by sequesteringCCAR2 to the cytoplasm, thereby impairing its ability to inhibitSIRT1 which is involved in the deacetylation and negativeregulation of beta-catenin (CTNB1) transcriptional activity(PubMed:24824780). {ECO:0000269|PubMed:18591935,ECO:0000269|PubMed:19555689, ECO:0000269|PubMed:22480440,ECO:0000269|PubMed:24824780}. |
![]() * 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 BMPR1B_MCC |
![]() (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 BMPR1B_MCC |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
BMPR1B | BMPR2, GDF5, GDF6, BMP7, BMP4, BMPR1A, BMPR1B, BMP2, SNX6, TRAF6, XIAP, TSC22D1, IGSF1, SMURF1, SMAD6, BAMBI, APP, PEG10, USP15, EVA1C, OTUB1, TPRA1 | MCC | CLTC, STRN, STK24, STRN3, STRN4, EPRS, PPP2R1A, VCP, CSNK1D, MYH10, KRT18, TPM3, CSNK1E, EIF3A, PFAS, IARS, TARS, PFKP, SNRNP200, MTHFD1, PDCD10, DFFA, PSME3, MARS, CBR1, VDAC1, STRIP1, HPRT1, PSMD2, CCNA1, EZR, VHL, PAICS, VPS35, LTA4H, DYNC1I1, NEK2, APP, ERBB2IP, GTF2E2, CBX5, CCAR2, NFKBIB, MAGEE1, SYNC, CCDC83, DAB2IP, DFNB31, MTNR1A |
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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 BMPR1B_MCC |
![]() (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 BMPR1B_MCC |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BMPR1B | C1832702 | BRACHYDACTYLY, TYPE A2 | 2 | CTD_human;HPO;ORPHANET;UNIPROT |
Hgene | BMPR1B | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
Hgene | BMPR1B | C0015393 | Eye Abnormalities | 1 | CTD_human |
Hgene | BMPR1B | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | BMPR1B | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Hgene | BMPR1B | C1836182 | Chondrodysplasia, acromesomelic, with genital anomalies | 1 | CTD_human |
Hgene | BMPR1B | C4225183 | BRACHYDACTYLY, TYPE A1, D | 1 | UNIPROT |
Hgene | BMPR1B | C4225404 | ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE | 1 | UNIPROT |
Tgene | MCC | C0004352 | Autistic Disorder | 1 | CTD_human |
Tgene | MCC | C0032580 | Adenomatous Polyposis Coli | 1 | CTD_human |
Tgene | MCC | C0034885 | Rectal Neoplasms | 1 | CTD_human |
Tgene | MCC | C3714756 | Intellectual Disability | 1 | CTD_human |