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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:BMPR1A-CHD8 (FusionGDB2 ID:9893) |
Fusion Gene Summary for BMPR1A-CHD8 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BMPR1A-CHD8 | Fusion gene ID: 9893 | Hgene | Tgene | Gene symbol | BMPR1A | CHD8 | Gene ID | 657 | 57680 |
| Gene name | bone morphogenetic protein receptor type 1A | chromodomain helicase DNA binding protein 8 | |
| Synonyms | 10q23del|ACVRLK3|ALK3|CD292|SKR5 | AUTS18|HELSNF1 | |
| Cytomap | 10q23.2 | 14q11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | bone morphogenetic protein receptor type-1AALK-3BMP type-1A receptorBMPR-1Aactivin A receptor, type II-like kinase 3activin receptor-like kinase 3bone morphogenetic protein receptor, type IAserine/threonine-protein kinase receptor R5 | chromodomain-helicase-DNA-binding protein 8ATP-dependent helicase CHD8axis duplication inhibitorduplinhelicase with SNF2 domain 1 | |
| Modification date | 20200313 | 20200329 | |
| UniProtAcc | P36894 | Q9HCK8 | |
| Ensembl transtripts involved in fusion gene | ENST00000372037, ENST00000480152, | ENST00000399982, ENST00000430710, ENST00000555962, ENST00000557364, | |
| Fusion gene scores | * DoF score | 11 X 10 X 5=550 | 10 X 10 X 6=600 |
| # samples | 13 | 13 | |
| ** MAII score | log2(13/550*10)=-2.08091999538357 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/600*10)=-2.20645087746743 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: BMPR1A [Title/Abstract] AND CHD8 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | BMPR1A(88684945)-CHD8(21866754), # 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) |
| 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 | BMPR1A | GO:0006468 | protein phosphorylation | 12065756 |
| Hgene | BMPR1A | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 9389648|24904118 |
| Hgene | BMPR1A | GO:0030509 | BMP signaling pathway | 9389648|18436533 |
| Hgene | BMPR1A | GO:0060391 | positive regulation of SMAD protein signal transduction | 9389648 |
| Tgene | CHD8 | GO:0045893 | positive regulation of transcription, DNA-templated | 17938208 |
| Tgene | CHD8 | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 18378692|22083958 |
| Fusion gene breakpoints across BMPR1A (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 CHD8 (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 |
| ChiTaRS5.0 | N/A | NM_004329 | BMPR1A | chr10 | 88684945 | + | CHD8 | chr14 | 21866754 | + |
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Fusion Gene ORF analysis for BMPR1A-CHD8 |
| 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 |
| 3UTR-intron | ENST00000372037 | ENST00000399982 | BMPR1A | chr10 | 88684945 | + | CHD8 | chr14 | 21866754 | + |
| 3UTR-intron | ENST00000372037 | ENST00000430710 | BMPR1A | chr10 | 88684945 | + | CHD8 | chr14 | 21866754 | + |
| 3UTR-intron | ENST00000372037 | ENST00000555962 | BMPR1A | chr10 | 88684945 | + | CHD8 | chr14 | 21866754 | + |
| 3UTR-intron | ENST00000372037 | ENST00000557364 | BMPR1A | chr10 | 88684945 | + | CHD8 | chr14 | 21866754 | + |
| intron-intron | ENST00000480152 | ENST00000399982 | BMPR1A | chr10 | 88684945 | + | CHD8 | chr14 | 21866754 | + |
| intron-intron | ENST00000480152 | ENST00000430710 | BMPR1A | chr10 | 88684945 | + | CHD8 | chr14 | 21866754 | + |
| intron-intron | ENST00000480152 | ENST00000555962 | BMPR1A | chr10 | 88684945 | + | CHD8 | chr14 | 21866754 | + |
| intron-intron | ENST00000480152 | ENST00000557364 | BMPR1A | chr10 | 88684945 | + | CHD8 | chr14 | 21866754 | + |
| 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 BMPR1A-CHD8 |
| 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) |
| 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 BMPR1A-CHD8 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:88684945/:21866754) - 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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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BMPR1A | CHD8 |
| 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 BMP2, BMP4, GDF5 and GDF6. Positively regulates chondrocyte differentiation through GDF5 interaction. Mediates induction of adipogenesis by GDF6. {ECO:0000250|UniProtKB:P36895}. | FUNCTION: DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved in both enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Acts as a suppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity. Also acts as a transcription activator via its interaction with ZNF143 by participating in efficient U6 RNA polymerase III transcription. {ECO:0000255|HAMAP-Rule:MF_03071, ECO:0000269|PubMed:17938208, ECO:0000269|PubMed:18378692}. |
| 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 BMPR1A-CHD8 |
| 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 BMPR1A-CHD8 |
| 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 BMPR1A-CHD8 |
| 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 |
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Related Diseases for BMPR1A-CHD8 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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