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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:BMPR2-CYP20A1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: BMPR2-CYP20A1
FusionPDB ID: 9925
FusionGDB2.0 ID: 9925
HgeneTgene
Gene symbol

BMPR2

CYP20A1

Gene ID

659

57404

Gene namebone morphogenetic protein receptor type 2cytochrome P450 family 20 subfamily A member 1
SynonymsBMPR-II|BMPR3|BMR2|BRK-3|POVD1|PPH1|T-ALKCYP-M
Cytomap

2q33.1-q33.2

2q33.2

Type of geneprotein-codingprotein-coding
Descriptionbone morphogenetic protein receptor type-2BMP type II receptorBMP type-2 receptorbone morphogenetic protein receptor type IIbone morphogenetic protein receptor, type II (serine/threonine kinase)type II activin receptor-like kinasetype II receptor focytochrome P450 20A1cytochrome P450 monooxygenasecytochrome P450, family 20, subfamily A, polypeptide 1
Modification date2020031320200313
UniProtAcc

Q13873

Q6UW02

Ensembl transtripts involved in fusion geneENST idsENST00000479069, ENST00000374574, 
ENST00000374580, 
ENST00000356079, 
ENST00000429815, ENST00000461371, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score20 X 12 X 9=21608 X 11 X 5=440
# samples 219
** MAII scorelog2(21/2160*10)=-3.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/440*10)=-2.28950661719499
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: BMPR2 [Title/Abstract] AND CYP20A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)BMPR2(203332412)-CYP20A1(204116690), # samples:1
Anticipated loss of major functional domain due to fusion event.BMPR2-CYP20A1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
BMPR2-CYP20A1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneBMPR2

GO:0007178

transmembrane receptor protein serine/threonine kinase signaling pathway

12045205

HgeneBMPR2

GO:0010634

positive regulation of epithelial cell migration

12819188

HgeneBMPR2

GO:0030308

negative regulation of cell growth

12819188

HgeneBMPR2

GO:0030509

BMP signaling pathway

18436533


check buttonFusion gene breakpoints across BMPR2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across CYP20A1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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-E2-A573-01ABMPR2chr2

203332412

+CYP20A1chr2

204116690

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000374580BMPR2chr2203332412+ENST00000356079CYP20A1chr2204116690+24949575242056510
ENST00000374574BMPR2chr2203332412+ENST00000356079CYP20A1chr2204116690+1996459261558510

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
ENST00000374580ENST00000356079BMPR2chr2203332412+CYP20A1chr2204116690+0.0013022250.99869776
ENST00000374574ENST00000356079BMPR2chr2203332412+CYP20A1chr2204116690+0.0006533160.9993467

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>9925_9925_1_BMPR2-CYP20A1_BMPR2_chr2_203332412_ENST00000374574_CYP20A1_chr2_204116690_ENST00000356079_length(amino acids)=510AA_BP=145
MAGPGMTSSLQRPWRVPWLPWTILLVSTAAASQNQERLCAFKDPYQQDLGIGESRISHENGTILCSKGSTCYGLWEKSKGDINLVKQGCW
SHIGDPQECHYEECVVTTTPPSIQNGTYRFCCCSTDLCNVNFTENFPPPDTTPLTDPFETMLKSLLRYQSGGGSVSENHMRKKLYENGVT
DSLKSNFALLLKLSEELLDKWLSYPETQHVPLSQHMLGFAMKSVTQMVMGSTFEDDQEVIRFQKNHGTVWSEIGKGFLDGSLDKNMTRKK
QYEDALMQLESVLRNIIKERKGRNFSQHIFIDSLVQGNLNDQQILEDSMIFSLASCIITAKLCTWAICFLTTSEEVQKKLYEEINQVFGN
GPVTPEKIEQLRYCQHVLCETVRTAKLTPVSAQLQDIEGKIDRFIIPRETLVLYALGVVLQDPNTWPSPHKFDPDRFDDELVMKTFSSLG

--------------------------------------------------------------

>9925_9925_2_BMPR2-CYP20A1_BMPR2_chr2_203332412_ENST00000374580_CYP20A1_chr2_204116690_ENST00000356079_length(amino acids)=510AA_BP=145
MAGPGMTSSLQRPWRVPWLPWTILLVSTAAASQNQERLCAFKDPYQQDLGIGESRISHENGTILCSKGSTCYGLWEKSKGDINLVKQGCW
SHIGDPQECHYEECVVTTTPPSIQNGTYRFCCCSTDLCNVNFTENFPPPDTTPLTDPFETMLKSLLRYQSGGGSVSENHMRKKLYENGVT
DSLKSNFALLLKLSEELLDKWLSYPETQHVPLSQHMLGFAMKSVTQMVMGSTFEDDQEVIRFQKNHGTVWSEIGKGFLDGSLDKNMTRKK
QYEDALMQLESVLRNIIKERKGRNFSQHIFIDSLVQGNLNDQQILEDSMIFSLASCIITAKLCTWAICFLTTSEEVQKKLYEEINQVFGN
GPVTPEKIEQLRYCQHVLCETVRTAKLTPVSAQLQDIEGKIDRFIIPRETLVLYALGVVLQDPNTWPSPHKFDPDRFDDELVMKTFSSLG

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Fusion Protein Functional Features


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/chr2:203332412/chr2:204116690)
- 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
BMPR2

Q13873

CYP20A1

Q6UW02

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. Binds to BMP7, BMP2 and, less efficiently, BMP4. Binding is weak but enhanced by the presence of type I receptors for BMPs. Mediates induction of adipogenesis by GDF6. {ECO:0000250|UniProtKB:O35607}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBMPR2chr2:203332412chr2:204116690ENST00000374580+313547_550139.333333333333341039.0Compositional biasNote=Poly-Ser
HgeneBMPR2chr2:203332412chr2:204116690ENST00000374580+313610_618139.333333333333341039.0Compositional biasNote=Poly-Thr
HgeneBMPR2chr2:203332412chr2:204116690ENST00000374580+313901_908139.333333333333341039.0Compositional biasNote=Poly-Asn
HgeneBMPR2chr2:203332412chr2:204116690ENST00000374580+313203_504139.333333333333341039.0DomainProtein kinase
HgeneBMPR2chr2:203332412chr2:204116690ENST00000374580+313209_217139.333333333333341039.0Nucleotide bindingATP
HgeneBMPR2chr2:203332412chr2:204116690ENST00000374580+313280_282139.333333333333341039.0Nucleotide bindingATP
HgeneBMPR2chr2:203332412chr2:204116690ENST00000374580+313337_338139.333333333333341039.0Nucleotide bindingATP
HgeneBMPR2chr2:203332412chr2:204116690ENST00000374580+313172_1038139.333333333333341039.0Topological domainCytoplasmic
HgeneBMPR2chr2:203332412chr2:204116690ENST00000374580+31327_150139.333333333333341039.0Topological domainExtracellular
HgeneBMPR2chr2:203332412chr2:204116690ENST00000374580+313151_171139.333333333333341039.0TransmembraneHelical
TgeneCYP20A1chr2:203332412chr2:204116690ENST000003560792134_2496.33333333333333463.0TransmembraneHelical


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
BMPR2
CYP20A1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to BMPR2-CYP20A1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to BMPR2-CYP20A1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource