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Fusion gene ID: 4250 |
FusionGeneSummary for BMPR1B_DDAH1 |
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Fusion gene information | Fusion gene name: BMPR1B_DDAH1 | Fusion gene ID: 4250 | Hgene | Tgene | Gene symbol | BMPR1B | DDAH1 | Gene ID | 658 | 23576 |
Gene name | bone morphogenetic protein receptor type 1B | dimethylarginine dimethylaminohydrolase 1 | |
Synonyms | ALK-6|ALK6|AMDD|BDA1D|BDA2|CDw293 | DDAH|DDAH-1|DDAHI|HEL-S-16 | |
Cytomap | 4q22.3 | 1p22.3 | |
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 | N(G),N(G)-dimethylarginine dimethylaminohydrolase 1NG, NG-dimethylarginine dimethylaminohydrolasedimethylargininase-1epididymis secretory protein Li 16 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | O00238 | O94760 | |
Ensembl transtripts involved in fusion gene | ENST00000515059, ENST00000440890, ENST00000264568, ENST00000394931, ENST00000502683, | ENST00000535924, ENST00000483110, ENST00000284031, ENST00000539042, ENST00000426972, ENST00000542148, | |
Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 4 X 3 X 3=36 |
# samples | 6 | 4 | |
** MAII score | log2(6/80*10)=-0.415037499278844 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: BMPR1B [Title/Abstract] AND DDAH1 [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 | BMPR1B | GO:0006468 | protein phosphorylation | 12065756 |
Hgene | BMPR1B | GO:0030509 | BMP signaling pathway | 18436533 |
Tgene | DDAH1 | GO:0000052 | citrulline metabolic process | 19663506 |
Tgene | DDAH1 | GO:0006527 | arginine catabolic process | 24895913 |
Tgene | DDAH1 | GO:0008285 | negative regulation of cell proliferation | 24895913 |
Tgene | DDAH1 | GO:0043116 | negative regulation of vascular permeability | 24895913 |
Tgene | DDAH1 | GO:1900038 | negative regulation of cellular response to hypoxia | 24895913 |
![]() (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 |
TCGA | RV | KIRC | TCGA-B0-4698-01A | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
* 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 |
5CDS-5UTR | ENST00000515059 | ENST00000535924 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000515059 | ENST00000483110 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000515059 | ENST00000284031 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000515059 | ENST00000539042 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000515059 | ENST00000426972 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000515059 | ENST00000542148 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000440890 | ENST00000535924 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000440890 | ENST00000483110 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000440890 | ENST00000284031 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000440890 | ENST00000539042 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000440890 | ENST00000426972 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000440890 | ENST00000542148 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000264568 | ENST00000535924 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000264568 | ENST00000483110 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000264568 | ENST00000284031 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000264568 | ENST00000539042 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000264568 | ENST00000426972 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000264568 | ENST00000542148 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000394931 | ENST00000535924 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000394931 | ENST00000483110 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000394931 | ENST00000284031 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000394931 | ENST00000539042 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000394931 | ENST00000426972 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000394931 | ENST00000542148 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000502683 | ENST00000535924 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000502683 | ENST00000483110 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000502683 | ENST00000284031 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000502683 | ENST00000539042 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000502683 | ENST00000426972 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
5CDS-5UTR | ENST00000502683 | ENST00000542148 | BMPR1B | chr4 | 96025718 | + | DDAH1 | chr1 | 85824530 | - |
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FusionProtFeatures for BMPR1B_DDAH1 |
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Hgene | Tgene |
BMPR1B | DDAH1 |
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 BMP7/OP-1 and GDF5.Positively regulates chondrocyte differentiation through GDF5interaction. {ECO:0000250|UniProtKB:P36898}. | Hydrolyzes N(G),N(G)-dimethyl-L-arginine (ADMA) andN(G)-monomethyl-L-arginine (MMA) which act as inhibitors of NOS.Has therefore a role in the regulation of nitric oxide generation. |
![]() * 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 BMPR1B_DDAH1 |
![]() (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 BMPR1B_DDAH1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
BMPR1B | BMPR2, GDF5, GDF6, BMP7, BMP4, BMPR1A, BMPR1B, BMP2, SNX6, TRAF6, XIAP, TSC22D1, IGSF1, SMURF1, SMAD6, BAMBI, APP, PEG10, USP15, EVA1C, OTUB1, TPRA1 | DDAH1 | CALM1, ELAVL1, IQCB1, PSMD10, MOV10, NXF1, DDAH2, BOLA3, LYRM4, APOOL, ATP5A1, LACE1, FGB, FSD1, TRIM25 |
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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 BMPR1B_DDAH1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for BMPR1B_DDAH1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BMPR1B | C1832702 | BRACHYDACTYLY, TYPE A2 | 2 | CTD_human;HPO;ORPHANET;UNIPROT |
Hgene | BMPR1B | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
Hgene | BMPR1B | C0015393 | Eye Abnormalities | 1 | CTD_human |
Hgene | BMPR1B | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | BMPR1B | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Hgene | BMPR1B | C1836182 | Chondrodysplasia, acromesomelic, with genital anomalies | 1 | CTD_human |
Hgene | BMPR1B | C4225183 | BRACHYDACTYLY, TYPE A1, D | 1 | UNIPROT |
Hgene | BMPR1B | C4225404 | ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE | 1 | UNIPROT |
Tgene | DDAH1 | C0023895 | Liver diseases | 1 | CTD_human |