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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:BMPR1B-CAPS2 (FusionGDB2 ID:HG658TG84698) |
Fusion Gene Summary for BMPR1B-CAPS2 |
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Fusion gene information | Fusion gene name: BMPR1B-CAPS2 | Fusion gene ID: hg658tg84698 | Hgene | Tgene | Gene symbol | BMPR1B | CAPS2 | Gene ID | 658 | 84698 |
Gene name | bone morphogenetic protein receptor type 1B | calcyphosine 2 | |
Synonyms | ALK-6|ALK6|AMDD|BDA1D|BDA2|CDw293 | UG0636c06 | |
Cytomap | ('BMPR1B')('CAPS2') 4q22.3 | 12q21.1-q21.2 | |
Type of gene | protein-coding | protein-coding | |
Description | bone morphogenetic protein receptor type-1BBMP type-1B receptorBMPR-1Bactivin receptor-like kinase 6bone morphogenetic protein receptor, type IBserine/threonine receptor kinase | calcyphosin-2calcyphosphine 2 | |
Modification date | 20200313 | 20200320 | |
UniProtAcc | O00238 | . | |
Ensembl transtripts involved in fusion gene | ENST00000264568, ENST00000394931, ENST00000440890, ENST00000502683, ENST00000515059, | ||
Fusion gene scores | * DoF score | 14 X 13 X 6=1092 | 6 X 7 X 2=84 |
# samples | 17 | 7 | |
** MAII score | log2(17/1092*10)=-2.68336620478215 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/84*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: BMPR1B [Title/Abstract] AND CAPS2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | BMPR1B(95808570)-CAPS2(75775328), # samples:1 | ||
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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | BMPR1B | GO:0006468 | protein phosphorylation | 12065756 |
Hgene | BMPR1B | GO:0030509 | BMP signaling pathway | 18436533 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for BMPR1B-CAPS2 |
![]() * 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 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for BMPR1B-CAPS2 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for BMPR1B-CAPS2 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:95808570/:75775328) - 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. |
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Hgene | Tgene |
BMPR1B | . |
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: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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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Fusion Gene Sequence for BMPR1B-CAPS2 |
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Fusion Gene PPI Analysis for BMPR1B-CAPS2 |
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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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Related Drugs for BMPR1B-CAPS2 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | BMPR1B | O00238 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for BMPR1B-CAPS2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BMPR1B | C1832702 | BRACHYDACTYLY, TYPE A2 | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | BMPR1B | C4225404 | ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE | 3 | GENOMICS_ENGLAND;UNIPROT |
Hgene | BMPR1B | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
Hgene | BMPR1B | C0015393 | Eye Abnormalities | 1 | CTD_human |
Hgene | BMPR1B | C0025322 | Premature Menopause | 1 | GENOMICS_ENGLAND |
Hgene | BMPR1B | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | BMPR1B | C0152171 | Idiopathic pulmonary hypertension | 1 | GENOMICS_ENGLAND |
Hgene | BMPR1B | C0265260 | Chondrodysplasia, Grebe type | 1 | ORPHANET |
Hgene | BMPR1B | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | BMPR1B | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Hgene | BMPR1B | C1300268 | Brachydactyly syndrome type C | 1 | ORPHANET |
Hgene | BMPR1B | C1836182 | Chondrodysplasia, acromesomelic, with genital anomalies | 1 | CTD_human |
Hgene | BMPR1B | C1856738 | Fibular hypoplasia and complex brachydactyly | 1 | ORPHANET |
Hgene | BMPR1B | C1862103 | Brachydactyly type C | 1 | ORPHANET |
Hgene | BMPR1B | C1862151 | BRACHYDACTYLY, TYPE A1 (disorder) | 1 | ORPHANET |
Hgene | BMPR1B | C2930970 | Acromesomelic dysplasia Hunter-Thompson type | 1 | CTD_human |
Hgene | BMPR1B | C3203102 | Idiopathic pulmonary arterial hypertension | 1 | GENOMICS_ENGLAND |
Hgene | BMPR1B | C4225183 | BRACHYDACTYLY, TYPE A1, D | 1 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | BMPR1B | C4317009 | Diverticular Diseases | 1 | CTD_human |
Hgene | BMPR1B | C4505353 | Diverticular Bleeding | 1 | CTD_human |