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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:SLCO3A1-BMPR2 (FusionGDB2 ID:83018) |
Fusion Gene Summary for SLCO3A1-BMPR2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SLCO3A1-BMPR2 | Fusion gene ID: 83018 | Hgene | Tgene | Gene symbol | SLCO3A1 | BMPR2 | Gene ID | 28232 | 659 |
| Gene name | solute carrier organic anion transporter family member 3A1 | bone morphogenetic protein receptor type 2 | |
| Synonyms | OATP-D|OATP-RP3|OATP3A1|OATPD|OATPRP3|SLC21A11 | BMPR-II|BMPR3|BMR2|BRK-3|POVD1|PPH1|T-ALK | |
| Cytomap | 15q26.1 | 2q33.1-q33.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | solute carrier organic anion transporter family member 3A1PGE1 transporterorganic anion transporter polypeptide-related protein 3organic anion-transporting polypeptide Dsodium-independent organic anion transporter Dsolute carrier family 21 (organic a | 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 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | Q13873 | |
| Ensembl transtripts involved in fusion gene | ENST00000318445, ENST00000424469, ENST00000555549, | ENST00000374580, ENST00000374574, ENST00000479069, | |
| Fusion gene scores | * DoF score | 8 X 5 X 7=280 | 10 X 10 X 2=200 |
| # samples | 8 | 10 | |
| ** MAII score | log2(8/280*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/200*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SLCO3A1 [Title/Abstract] AND BMPR2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | SLCO3A1(92397318)-BMPR2(203407034), # samples:3 | ||
| Anticipated loss of major functional domain due to fusion event. | SLCO3A1-BMPR2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. SLCO3A1-BMPR2 seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF. SLCO3A1-BMPR2 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF. SLCO3A1-BMPR2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. | ||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | SLCO3A1 | GO:0015732 | prostaglandin transport | 14631946 |
| Tgene | BMPR2 | GO:0007178 | transmembrane receptor protein serine/threonine kinase signaling pathway | 12045205 |
| Tgene | BMPR2 | GO:0010634 | positive regulation of epithelial cell migration | 12819188 |
| Tgene | BMPR2 | GO:0030308 | negative regulation of cell growth | 12819188 |
| Tgene | BMPR2 | GO:0030509 | BMP signaling pathway | 18436533 |
| Fusion gene breakpoints across SLCO3A1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across BMPR2 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | LUSC | TCGA-22-5485-01A | SLCO3A1 | chr15 | 92397318 | + | BMPR2 | chr2 | 203407034 | + |
| ChimerDB4 | LUSC | TCGA-22-5485 | SLCO3A1 | chr15 | 92397318 | + | BMPR2 | chr2 | 203407034 | + |
| ChimerDB4 | LUSC | TCGA-22-5485-01A | SLCO3A1 | chr15 | 92397318 | - | BMPR2 | chr2 | 203407034 | + |
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Fusion Gene ORF analysis for SLCO3A1-BMPR2 |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000318445 | ENST00000374580 | SLCO3A1 | chr15 | 92397318 | + | BMPR2 | chr2 | 203407034 | + |
| Frame-shift | ENST00000318445 | ENST00000374574 | SLCO3A1 | chr15 | 92397318 | + | BMPR2 | chr2 | 203407034 | + |
| 5CDS-intron | ENST00000318445 | ENST00000479069 | SLCO3A1 | chr15 | 92397318 | + | BMPR2 | chr2 | 203407034 | + |
| Frame-shift | ENST00000424469 | ENST00000374580 | SLCO3A1 | chr15 | 92397318 | + | BMPR2 | chr2 | 203407034 | + |
| Frame-shift | ENST00000424469 | ENST00000374574 | SLCO3A1 | chr15 | 92397318 | + | BMPR2 | chr2 | 203407034 | + |
| 5CDS-intron | ENST00000424469 | ENST00000479069 | SLCO3A1 | chr15 | 92397318 | + | BMPR2 | chr2 | 203407034 | + |
| intron-3CDS | ENST00000555549 | ENST00000374580 | SLCO3A1 | chr15 | 92397318 | + | BMPR2 | chr2 | 203407034 | + |
| intron-3CDS | ENST00000555549 | ENST00000374574 | SLCO3A1 | chr15 | 92397318 | + | BMPR2 | chr2 | 203407034 | + |
| intron-intron | ENST00000555549 | ENST00000479069 | SLCO3A1 | chr15 | 92397318 | + | BMPR2 | chr2 | 203407034 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| DeepORF 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. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for SLCO3A1-BMPR2 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| SLCO3A1 | chr15 | 92397318 | + | BMPR2 | chr2 | 203407033 | + | 4.41E-08 | 1 |
| SLCO3A1 | chr15 | 92397318 | + | BMPR2 | chr2 | 203407033 | + | 4.41E-08 | 1 |
| SLCO3A1 | chr15 | 92397318 | + | BMPR2 | chr2 | 203407033 | + | 4.41E-08 | 1 |
| SLCO3A1 | chr15 | 92397318 | + | BMPR2 | chr2 | 203407033 | + | 4.41E-08 | 1 |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for SLCO3A1-BMPR2 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | BMPR2 |
| FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | 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}. |
| Retention 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 * 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 SLCO3A1-BMPR2 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for SLCO3A1-BMPR2 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for SLCO3A1-BMPR2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | BMPR2 | Q13873 | DB11639 | Dibotermin alfa | Ligand | Biotech | Approved|Investigational |
| Tgene | BMPR2 | Q13873 | DB11639 | Dibotermin alfa | Ligand | Biotech | Approved|Investigational |
| Tgene | BMPR2 | Q13873 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | BMPR2 | Q13873 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for SLCO3A1-BMPR2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SLCO3A1 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Tgene | BMPR2 | C4552070 | Pulmonary Hypertension, Primary, 1 | 12 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Tgene | BMPR2 | C0020542 | Pulmonary Hypertension | 9 | CTD_human |
| Tgene | BMPR2 | C0340543 | Familial primary pulmonary hypertension | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Tgene | BMPR2 | C0034091 | Pulmonary Veno-Occlusive Disease (disorder) | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Tgene | BMPR2 | C1701939 | Familial pulmonary arterial hypertension | 2 | ORPHANET |
| Tgene | BMPR2 | C3203102 | Idiopathic pulmonary arterial hypertension | 2 | CTD_human;GENOMICS_ENGLAND |
| Tgene | BMPR2 | C0006142 | Malignant neoplasm of breast | 1 | CTD_human |
| Tgene | BMPR2 | C0152171 | Idiopathic pulmonary hypertension | 1 | GENOMICS_ENGLAND |
| Tgene | BMPR2 | C0206081 | Hyperandrogenism | 1 | CTD_human |
| Tgene | BMPR2 | C0340544 | Pulmonary arterial hypertension induced by drug | 1 | ORPHANET |
| Tgene | BMPR2 | C0678222 | Breast Carcinoma | 1 | CTD_human |
| Tgene | BMPR2 | C1150929 | 2-oxo-hept-3-ene-1,7-dioate hydratase activity | 1 | GENOMICS_ENGLAND |
| Tgene | BMPR2 | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
| Tgene | BMPR2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | BMPR2 | C1969342 | PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED | 1 | CTD_human |
| Tgene | BMPR2 | C1969343 | Pulmonary Hypertension, Primary, Fenfluramine-Associated | 1 | CTD_human |
| Tgene | BMPR2 | C2973725 | Pulmonary arterial hypertension | 1 | GENOMICS_ENGLAND |
| Tgene | BMPR2 | C3714844 | Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia | 1 | CTD_human |
| Tgene | BMPR2 | C3887658 | PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT | 1 | GENOMICS_ENGLAND |
| Tgene | BMPR2 | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |
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