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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: 4252

FusionGeneSummary for BMPR1B_MCC

check button Fusion gene summary
Fusion gene informationFusion gene name: BMPR1B_MCC
Fusion gene ID: 4252
HgeneTgene
Gene symbol

BMPR1B

MCC

Gene ID

658

4163

Gene namebone morphogenetic protein receptor type 1BMCC, WNT signaling pathway regulator
SynonymsALK-6|ALK6|AMDD|BDA1D|BDA2|CDw293MCC1
Cytomap

4q22.3

5q22.2

Type of geneprotein-codingprotein-coding
Descriptionbone morphogenetic protein receptor type-1BBMP type-1B receptorBMPR-1Bactivin receptor-like kinase 6bone morphogenetic protein receptor, type IBserine/threonine receptor kinasecolorectal mutant cancer proteinmutated in colorectal cancers
Modification date2018052320180522
UniProtAcc

O00238

P23508

Ensembl transtripts involved in fusion geneENST00000515059, ENST00000440890, 
ENST00000264568, ENST00000394931, 
ENST00000502683, 
ENST00000302475, 
ENST00000514701, ENST00000515367, 
ENST00000408903, 
Fusion gene scores* DoF score5 X 4 X 4=807 X 8 X 5=280
# samples 68
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneBMPR1B

GO:0006468

protein phosphorylation

12065756

HgeneBMPR1B

GO:0030509

BMP signaling pathway

18436533

TgeneMCC

GO:0045184

establishment of protein localization

18591935

TgeneMCC

GO:0050680

negative regulation of epithelial cell proliferation

18591935

TgeneMCC

GO:0090090

negative regulation of canonical Wnt signaling pathway

18591935


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
TCGARVBRCATCGA-A2-A0ET-01ABMPR1Bchr4

95917285

+MCCchr5

112406931

-
* 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
5UTR-3CDSENST00000515059ENST00000302475BMPR1Bchr4

95917285

+MCCchr5

112406931

-
5UTR-5UTRENST00000515059ENST00000514701BMPR1Bchr4

95917285

+MCCchr5

112406931

-
5UTR-5UTRENST00000515059ENST00000515367BMPR1Bchr4

95917285

+MCCchr5

112406931

-
5UTR-5UTRENST00000515059ENST00000408903BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-3CDSENST00000440890ENST00000302475BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000440890ENST00000514701BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000440890ENST00000515367BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000440890ENST00000408903BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-3CDSENST00000264568ENST00000302475BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000264568ENST00000514701BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000264568ENST00000515367BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000264568ENST00000408903BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-3CDSENST00000394931ENST00000302475BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000394931ENST00000514701BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000394931ENST00000515367BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000394931ENST00000408903BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-3CDSENST00000502683ENST00000302475BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000502683ENST00000514701BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000502683ENST00000515367BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000502683ENST00000408903BMPR1Bchr4

95917285

+MCCchr5

112406931

-

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FusionProtFeatures for BMPR1B_MCC


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BMPR1B

O00238

MCC

P23508

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}.

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 BMPR1B_MCC


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 BMPR1B_MCC


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
BMPR1BBMPR2, GDF5, GDF6, BMP7, BMP4, BMPR1A, BMPR1B, BMP2, SNX6, TRAF6, XIAP, TSC22D1, IGSF1, SMURF1, SMAD6, BAMBI, APP, PEG10, USP15, EVA1C, OTUB1, TPRA1MCCCLTC, 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


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 BMPR1B_MCC


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 BMPR1B_MCC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBMPR1BC1832702BRACHYDACTYLY, TYPE A22CTD_human;HPO;ORPHANET;UNIPROT
HgeneBMPR1BC0005941Bone Diseases, Developmental1CTD_human
HgeneBMPR1BC0015393Eye Abnormalities1CTD_human
HgeneBMPR1BC0033578Prostatic Neoplasms1CTD_human
HgeneBMPR1BC0376634Craniofacial Abnormalities1CTD_human
HgeneBMPR1BC1836182Chondrodysplasia, acromesomelic, with genital anomalies1CTD_human
HgeneBMPR1BC4225183BRACHYDACTYLY, TYPE A1, D1UNIPROT
HgeneBMPR1BC4225404ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE1UNIPROT
TgeneMCCC0004352Autistic Disorder1CTD_human
TgeneMCCC0032580Adenomatous Polyposis Coli1CTD_human
TgeneMCCC0034885Rectal Neoplasms1CTD_human
TgeneMCCC3714756Intellectual Disability1CTD_human