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Fusion gene ID: 4265 |
FusionGeneSummary for BMPR2_ZNF133 |
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Fusion gene information | Fusion gene name: BMPR2_ZNF133 | Fusion gene ID: 4265 | Hgene | Tgene | Gene symbol | BMPR2 | ZNF133 | Gene ID | 659 | 7692 |
Gene name | bone morphogenetic protein receptor type 2 | zinc finger protein 133 | |
Synonyms | BMPR-II|BMPR3|BMR2|BRK-3|POVD1|PPH1|T-ALK | ZNF150|pHZ-13|pHZ-66 | |
Cytomap | 2q33.1-q33.2 | 20p11.23 | |
Type of gene | protein-coding | protein-coding | |
Description | bone 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 fo | zinc finger protein 133zinc finger protein 133 (clone pHZ-13)zinc finger protein 150 (pHZ-66) | |
Modification date | 20180527 | 20180523 | |
UniProtAcc | Q13873 | P52736 | |
Ensembl transtripts involved in fusion gene | ENST00000374580, ENST00000374574, ENST00000479069, | ENST00000377671, ENST00000396026, ENST00000402618, ENST00000401790, ENST00000538547, ENST00000535822, ENST00000316358, ENST00000462170, | |
Fusion gene scores | * DoF score | 11 X 7 X 7=539 | 2 X 2 X 2=8 |
# samples | 11 | 2 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | BMPR2 | GO:0007178 | transmembrane receptor protein serine/threonine kinase signaling pathway | 12045205 |
Hgene | BMPR2 | GO:0010634 | positive regulation of epithelial cell migration | 12819188 |
Hgene | BMPR2 | GO:0030308 | negative regulation of cell growth | 12819188 |
Hgene | BMPR2 | GO:0030509 | BMP signaling pathway | 18436533 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | DB354940 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
3UTR-intron | ENST00000374580 | ENST00000377671 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
3UTR-intron | ENST00000374580 | ENST00000396026 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
3UTR-intron | ENST00000374580 | ENST00000402618 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
3UTR-intron | ENST00000374580 | ENST00000401790 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
3UTR-intron | ENST00000374580 | ENST00000538547 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
3UTR-intron | ENST00000374580 | ENST00000535822 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
3UTR-intron | ENST00000374580 | ENST00000316358 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
3UTR-intron | ENST00000374580 | ENST00000462170 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
3UTR-intron | ENST00000374574 | ENST00000377671 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
3UTR-intron | ENST00000374574 | ENST00000396026 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
3UTR-intron | ENST00000374574 | ENST00000402618 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
3UTR-intron | ENST00000374574 | ENST00000401790 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
3UTR-intron | ENST00000374574 | ENST00000538547 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
3UTR-intron | ENST00000374574 | ENST00000535822 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
3UTR-intron | ENST00000374574 | ENST00000316358 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
3UTR-intron | ENST00000374574 | ENST00000462170 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
intron-intron | ENST00000479069 | ENST00000377671 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
intron-intron | ENST00000479069 | ENST00000396026 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
intron-intron | ENST00000479069 | ENST00000402618 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
intron-intron | ENST00000479069 | ENST00000401790 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
intron-intron | ENST00000479069 | ENST00000538547 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
intron-intron | ENST00000479069 | ENST00000535822 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
intron-intron | ENST00000479069 | ENST00000316358 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
intron-intron | ENST00000479069 | ENST00000462170 | BMPR2 | chr2 | 203432214 | - | ZNF133 | chr20 | 18287341 | - |
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FusionProtFeatures for BMPR2_ZNF133 |
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Hgene | Tgene |
BMPR2 | ZNF133 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for BMPR2_ZNF133 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for BMPR2_ZNF133 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | BMPR2 | Q13873 | DB11639 | Dibotermin alfa | Bone morphogenetic protein receptor type-2 | biotech | approved|investigational |
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RelatedDiseases for BMPR2_ZNF133 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BMPR2 | C0020542 | Pulmonary Hypertension | 9 | CTD_human;HPO |
Hgene | BMPR2 | C3203102 | Idiopathic pulmonary arterial hypertension | 7 | HPO;UNIPROT |
Hgene | BMPR2 | C0206081 | Hyperandrogenism | 1 | CTD_human |
Hgene | BMPR2 | C0340543 | Familial primary pulmonary hypertension | 1 | CTD_human;ORPHANET |
Hgene | BMPR2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |