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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: 4265

FusionGeneSummary for BMPR2_ZNF133

check button Fusion gene summary
Fusion gene informationFusion gene name: BMPR2_ZNF133
Fusion gene ID: 4265
HgeneTgene
Gene symbol

BMPR2

ZNF133

Gene ID

659

7692

Gene namebone morphogenetic protein receptor type 2zinc finger protein 133
SynonymsBMPR-II|BMPR3|BMR2|BRK-3|POVD1|PPH1|T-ALKZNF150|pHZ-13|pHZ-66
Cytomap

2q33.1-q33.2

20p11.23

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 fozinc finger protein 133zinc finger protein 133 (clone pHZ-13)zinc finger protein 150 (pHZ-66)
Modification date2018052720180523
UniProtAcc

Q13873

P52736

Ensembl transtripts involved in fusion geneENST00000374580, ENST00000374574, 
ENST00000479069, 
ENST00000377671, 
ENST00000396026, ENST00000402618, 
ENST00000401790, ENST00000538547, 
ENST00000535822, ENST00000316358, 
ENST00000462170, 
Fusion gene scores* DoF score11 X 7 X 7=5392 X 2 X 2=8
# samples 112
** MAII scorelog2(11/539*10)=-2.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: BMPR2 [Title/Abstract] AND ZNF133 [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
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 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
ChiTaRS3.1DB354940BMPR2chr2

203432214

-ZNF133chr20

18287341

-
* 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
3UTR-intronENST00000374580ENST00000377671BMPR2chr2

203432214

-ZNF133chr20

18287341

-
3UTR-intronENST00000374580ENST00000396026BMPR2chr2

203432214

-ZNF133chr20

18287341

-
3UTR-intronENST00000374580ENST00000402618BMPR2chr2

203432214

-ZNF133chr20

18287341

-
3UTR-intronENST00000374580ENST00000401790BMPR2chr2

203432214

-ZNF133chr20

18287341

-
3UTR-intronENST00000374580ENST00000538547BMPR2chr2

203432214

-ZNF133chr20

18287341

-
3UTR-intronENST00000374580ENST00000535822BMPR2chr2

203432214

-ZNF133chr20

18287341

-
3UTR-intronENST00000374580ENST00000316358BMPR2chr2

203432214

-ZNF133chr20

18287341

-
3UTR-intronENST00000374580ENST00000462170BMPR2chr2

203432214

-ZNF133chr20

18287341

-
3UTR-intronENST00000374574ENST00000377671BMPR2chr2

203432214

-ZNF133chr20

18287341

-
3UTR-intronENST00000374574ENST00000396026BMPR2chr2

203432214

-ZNF133chr20

18287341

-
3UTR-intronENST00000374574ENST00000402618BMPR2chr2

203432214

-ZNF133chr20

18287341

-
3UTR-intronENST00000374574ENST00000401790BMPR2chr2

203432214

-ZNF133chr20

18287341

-
3UTR-intronENST00000374574ENST00000538547BMPR2chr2

203432214

-ZNF133chr20

18287341

-
3UTR-intronENST00000374574ENST00000535822BMPR2chr2

203432214

-ZNF133chr20

18287341

-
3UTR-intronENST00000374574ENST00000316358BMPR2chr2

203432214

-ZNF133chr20

18287341

-
3UTR-intronENST00000374574ENST00000462170BMPR2chr2

203432214

-ZNF133chr20

18287341

-
intron-intronENST00000479069ENST00000377671BMPR2chr2

203432214

-ZNF133chr20

18287341

-
intron-intronENST00000479069ENST00000396026BMPR2chr2

203432214

-ZNF133chr20

18287341

-
intron-intronENST00000479069ENST00000402618BMPR2chr2

203432214

-ZNF133chr20

18287341

-
intron-intronENST00000479069ENST00000401790BMPR2chr2

203432214

-ZNF133chr20

18287341

-
intron-intronENST00000479069ENST00000538547BMPR2chr2

203432214

-ZNF133chr20

18287341

-
intron-intronENST00000479069ENST00000535822BMPR2chr2

203432214

-ZNF133chr20

18287341

-
intron-intronENST00000479069ENST00000316358BMPR2chr2

203432214

-ZNF133chr20

18287341

-
intron-intronENST00000479069ENST00000462170BMPR2chr2

203432214

-ZNF133chr20

18287341

-

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FusionProtFeatures for BMPR2_ZNF133


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BMPR2

Q13873

ZNF133

P52736

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. Binds to BMP7, BMP2 and, lessefficiently, BMP4. Binding is weak but enhanced by the presence oftype I receptors for BMPs. Mediates induction of adipogenesis byGDF6. {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.
- 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 BMPR2_ZNF133


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 BMPR2_ZNF133


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


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RelatedDrugs for BMPR2_ZNF133


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneBMPR2Q13873DB11639Dibotermin alfaBone morphogenetic protein receptor type-2biotechapproved|investigational

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RelatedDiseases for BMPR2_ZNF133


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBMPR2C0020542Pulmonary Hypertension9CTD_human;HPO
HgeneBMPR2C3203102Idiopathic pulmonary arterial hypertension7HPO;UNIPROT
HgeneBMPR2C0206081Hyperandrogenism1CTD_human
HgeneBMPR2C0340543Familial primary pulmonary hypertension1CTD_human;ORPHANET
HgeneBMPR2C1458155Mammary Neoplasms1CTD_human