Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:BMPR1B-MCC (FusionGDB2 ID:HG658TG4163)

Fusion Gene Summary for BMPR1B-MCC

check button Fusion gene summary
Fusion gene informationFusion gene name: BMPR1B-MCC
Fusion gene ID: hg658tg4163
HgeneTgene
Gene symbol

BMPR1B

MCC

Gene ID

658

4163

Gene namebone morphogenetic protein receptor type 1BMCC regulator of WNT signaling pathway
SynonymsALK-6|ALK6|AMDD|BDA1D|BDA2|CDw293MCC1
Cytomap('BMPR1B')('MCC')

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 proteinMCC, WNT signaling pathway regulatormutated in colorectal cancers
Modification date2020031320200313
UniProtAcc

O00238

P23508

Ensembl transtripts involved in fusion geneENST00000515059, ENST00000264568, 
ENST00000394931, ENST00000440890, 
ENST00000502683, 
Fusion gene scores* DoF score14 X 13 X 6=109211 X 12 X 5=660
# samples 1712
** MAII scorelog2(17/1092*10)=-2.68336620478215
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/660*10)=-2.4594316186373
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]

Most frequent breakpointBMPR1B(95917285)-MCC(112406931), # samples:4
Anticipated loss of major functional domain due to fusion event.
* 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
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-A2-A0ET-01ABMPR1Bchr4

95917285

-MCCchr5

112406931

-
ChimerDB4BRCATCGA-A2-A0ET-01ABMPR1Bchr4

95917285

+MCCchr5

112406931

-
ChimerDB4BRCATCGA-A2-A0ETBMPR1Bchr4

95917285

+MCCchr5

112406931

-


Top

Fusion Gene ORF analysis for BMPR1B-MCC

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-5UTRENST00000515059ENST00000408903BMPR1Bchr4

95917285

+MCCchr5

112406931

-
5UTR-5UTRENST00000515059ENST00000514701BMPR1Bchr4

95917285

+MCCchr5

112406931

-
5UTR-5UTRENST00000515059ENST00000515367BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-3CDSENST00000264568ENST00000302475BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-3CDSENST00000394931ENST00000302475BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-3CDSENST00000440890ENST00000302475BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-3CDSENST00000502683ENST00000302475BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000264568ENST00000408903BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000264568ENST00000514701BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000264568ENST00000515367BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000394931ENST00000408903BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000394931ENST00000514701BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000394931ENST00000515367BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000440890ENST00000408903BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000440890ENST00000514701BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000440890ENST00000515367BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000502683ENST00000408903BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000502683ENST00000514701BMPR1Bchr4

95917285

+MCCchr5

112406931

-
intron-5UTRENST00000502683ENST00000515367BMPR1Bchr4

95917285

+MCCchr5

112406931

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

Top

Fusion Genomic Features for BMPR1B-MCC


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


Top

Fusion Protein Features for BMPR1B-MCC


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:95917285/:112406931)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

O00238

MCC

P23508

FUNCTION: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5. Positively regulates chondrocyte differentiation through GDF5 interaction. {ECO:0000250|UniProtKB:P36898}.FUNCTION: Candidate for the putative colorectal tumor suppressor gene located at 5q21. Suppresses cell proliferation and the Wnt/b-catenin pathway in colorectal cancer cells. Inhibits DNA binding of b-catenin/TCF/LEF transcription factors. Involved in cell migration independently of RAC1, CDC42 and p21-activated kinase (PAK) activation (PubMed:18591935, PubMed:19555689, PubMed:22480440). Represses the beta-catenin pathway (canonical Wnt signaling pathway) in a CCAR2-dependent manner by sequestering CCAR2 to the cytoplasm, thereby impairing its ability to inhibit SIRT1 which is involved in the deacetylation and negative regulation 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


Top

Fusion Gene Sequence for BMPR1B-MCC


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

Top

Fusion Gene PPI Analysis 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


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


Top

Related Drugs for BMPR1B-MCC


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneBMPR1BO00238DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational

Top

Related Diseases for BMPR1B-MCC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBMPR1BC1832702BRACHYDACTYLY, TYPE A23CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneBMPR1BC4225404ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE3GENOMICS_ENGLAND;UNIPROT
HgeneBMPR1BC0005941Bone Diseases, Developmental1CTD_human
HgeneBMPR1BC0015393Eye Abnormalities1CTD_human
HgeneBMPR1BC0025322Premature Menopause1GENOMICS_ENGLAND
HgeneBMPR1BC0033578Prostatic Neoplasms1CTD_human
HgeneBMPR1BC0152171Idiopathic pulmonary hypertension1GENOMICS_ENGLAND
HgeneBMPR1BC0265260Chondrodysplasia, Grebe type1ORPHANET
HgeneBMPR1BC0376358Malignant neoplasm of prostate1CTD_human
HgeneBMPR1BC0376634Craniofacial Abnormalities1CTD_human
HgeneBMPR1BC1300268Brachydactyly syndrome type C1ORPHANET
HgeneBMPR1BC1836182Chondrodysplasia, acromesomelic, with genital anomalies1CTD_human
HgeneBMPR1BC1856738Fibular hypoplasia and complex brachydactyly1ORPHANET
HgeneBMPR1BC1862103Brachydactyly type C1ORPHANET
HgeneBMPR1BC1862151BRACHYDACTYLY, TYPE A1 (disorder)1ORPHANET
HgeneBMPR1BC2930970Acromesomelic dysplasia Hunter-Thompson type1CTD_human
HgeneBMPR1BC3203102Idiopathic pulmonary arterial hypertension1GENOMICS_ENGLAND
HgeneBMPR1BC4225183BRACHYDACTYLY, TYPE A1, D1CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneBMPR1BC4317009Diverticular Diseases1CTD_human
HgeneBMPR1BC4505353Diverticular Bleeding1CTD_human
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0007113Rectal Carcinoma1CTD_human
TgeneC0020796Profound Mental Retardation1CTD_human
TgeneC0025363Mental Retardation, Psychosocial1CTD_human
TgeneC0032580Adenomatous Polyposis Coli1CTD_human
TgeneC0034885Rectal Neoplasms1CTD_human
TgeneC0917816Mental deficiency1CTD_human
TgeneC2713442Polyposis, Adenomatous Intestinal1CTD_human
TgeneC2713443Familial Intestinal Polyposis1CTD_human
TgeneC3714756Intellectual Disability1CTD_human