FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 4248

FusionGeneSummary for BMPR1A_FGFBP3

check button Fusion gene summary
Fusion gene informationFusion gene name: BMPR1A_FGFBP3
Fusion gene ID: 4248
HgeneTgene
Gene symbol

BMPR1A

FGFBP3

Gene ID

657

143282

Gene namebone morphogenetic protein receptor type 1Afibroblast growth factor binding protein 3
Synonyms10q23del|ACVRLK3|ALK3|CD292|SKR5C10orf13|FGF-BP3
Cytomap

10q23.2

10q23.32

Type of geneprotein-codingprotein-coding
Descriptionbone morphogenetic protein receptor type-1AALK-3BMP type-1A receptorBMPR-1Aactivin A receptor, type II-like kinase 3activin receptor-like kinase 3bone morphogenetic protein receptor, type IAserine/threonine-protein kinase receptor R5fibroblast growth factor-binding protein 3FGF-binding protein 3FGFBP-3
Modification date2018052320180523
UniProtAcc

P36894

Q8TAT2

Ensembl transtripts involved in fusion geneENST00000372037, ENST00000480152, 
ENST00000311575, 
Fusion gene scores* DoF score5 X 3 X 4=601 X 1 X 1=1
# samples 51
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: BMPR1A [Title/Abstract] AND FGFBP3 [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
HgeneBMPR1A

GO:0006468

protein phosphorylation

12065756

HgeneBMPR1A

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

9389648|24904118

HgeneBMPR1A

GO:0030509

BMP signaling pathway

9389648|18436533

HgeneBMPR1A

GO:0060391

positive regulation of SMAD protein signal transduction

9389648

TgeneFGFBP3

GO:0043117

positive regulation of vascular permeability

18669637


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
TCGALDPRADTCGA-HC-7209-01ABMPR1Achr10

88516676

+FGFBP3chr10

93669235

-
* 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-3CDSENST00000372037ENST00000311575BMPR1Achr10

88516676

+FGFBP3chr10

93669235

-
intron-3CDSENST00000480152ENST00000311575BMPR1Achr10

88516676

+FGFBP3chr10

93669235

-

Top

FusionProtFeatures for BMPR1A_FGFBP3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BMPR1A

P36894

FGFBP3

Q8TAT2

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 BMP2, BMP4, GDF5 andGDF6. Positively regulates chondrocyte differentiation throughGDF5 interaction. Mediates induction of adipogenesis by GDF6.{ECO:0000250|UniProtKB:P36895}. Heparin-binding protein which binds to FGF2, preventsbinding of FGF2 to heparin and probably inhibits immobilization ofFGF2 on extracellular matrix glycosaminoglycans, allowing itsrelease and subsequent activation of FGFR signaling which leads toincreased vascular permeability. {ECO:0000269|PubMed:18669637}.

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

FusionGeneSequence for BMPR1A_FGFBP3


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).

Top

FusionGenePPI for BMPR1A_FGFBP3


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
BMPR1ASF3B4, SMAD7, BMP2, BMPR2, FKBP1B, GDF5, GDF6, BMP7, BMP4, BMP6, FKBP1A, ZMYND11, BMPR1B, BMPR1A, RUNX2, TSC22D1, NEDD4L, NEDD4, IGSF1, FST, SMURF1, MYC, BAMBI, SMAD6, SMAD1, HSP90AA1, PEG10, CAV1, ACVR1, USP15, CLDND1, SNX11, TGFBR2, TSPAN17, GINM1, PTGER3, HEPACAM2, OTUB1, GPR114, MRAP2, LRRIQ1, MANSC1, IL17RB, C16orf58, IFNGR1, FAM171B, HAVCR2, SLC20A1, CD83, FSHR, TLR2, LITAF, TMEM52B, TNFRSF10A, ARRDC3, MAS1, C14orf37, TPCN2, IL1R1, PDCD1, IL4R, PDGFRB, TRIM25FGFBP3


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

RelatedDrugs for BMPR1A_FGFBP3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneBMPR1AP36894DB11639Dibotermin alfaBone morphogenetic protein receptor type-1Abiotechapproved|investigational

Top

RelatedDiseases for BMPR1A_FGFBP3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBMPR1AC0345893Juvenile polyposis syndrome5CTD_human;ORPHANET;UNIPROT
HgeneBMPR1AC0015393Eye Abnormalities1CTD_human
HgeneBMPR1AC0376634Craniofacial Abnormalities1CTD_human
HgeneBMPR1AC1720887Female Urogenital Diseases1CTD_human