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Fusion gene ID: 644 |
FusionGeneSummary for ACVR1B_ACVRL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ACVR1B_ACVRL1 | Fusion gene ID: 644 | Hgene | Tgene | Gene symbol | ACVR1B | ACVRL1 | Gene ID | 91 | 94 |
| Gene name | activin A receptor type 1B | activin A receptor like type 1 | |
| Synonyms | ACTRIB|ACVRLK4|ALK4|SKR2 | ACVRLK1|ALK-1|ALK1|HHT|HHT2|ORW2|SKR3|TSR-I | |
| Cytomap | 12q13.13 | 12q13.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | activin receptor type-1Bactivin A receptor, type IBactivin A receptor, type II-like kinase 4activin receptor-like kinase 4serine/threonine-protein kinase receptor R2 | serine/threonine-protein kinase receptor R3TGF-B superfamily receptor type Iactivin A receptor type II-like 1activin A receptor type ILactivin A receptor, type II-like kinase 1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P36896 | P37023 | |
| Ensembl transtripts involved in fusion gene | ENST00000257963, ENST00000541224, ENST00000426655, ENST00000415850, ENST00000542485, ENST00000563121, | ENST00000388922, ENST00000550683, ENST00000419526, ENST00000550084, | |
| Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 6 X 4 X 5=120 |
| # samples | 5 | 7 | |
| ** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/120*10)=-0.777607578663552 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ACVR1B [Title/Abstract] AND ACVRL1 [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) |
| 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 | ACVR1B | GO:0000082 | G1/S transition of mitotic cell cycle | 11117535 |
| Hgene | ACVR1B | GO:0006355 | regulation of transcription, DNA-templated | 8622651|12665502 |
| Hgene | ACVR1B | GO:0006468 | protein phosphorylation | 12065756 |
| Hgene | ACVR1B | GO:0007165 | signal transduction | 8622651|12665502 |
| Hgene | ACVR1B | GO:0018107 | peptidyl-threonine phosphorylation | 18039968 |
| Hgene | ACVR1B | GO:0030308 | negative regulation of cell growth | 11117535 |
| Hgene | ACVR1B | GO:0032924 | activin receptor signaling pathway | 9892009 |
| Hgene | ACVR1B | GO:0032927 | positive regulation of activin receptor signaling pathway | 16720724 |
| Hgene | ACVR1B | GO:0045648 | positive regulation of erythrocyte differentiation | 9032295 |
| Hgene | ACVR1B | GO:0046777 | protein autophosphorylation | 18039968 |
| Hgene | ACVR1B | GO:1901165 | positive regulation of trophoblast cell migration | 21356369 |
| Tgene | ACVRL1 | GO:0006468 | protein phosphorylation | 12065756 |
| Tgene | ACVRL1 | GO:0007165 | signal transduction | 15702480 |
| Tgene | ACVRL1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 15702480 |
| Tgene | ACVRL1 | GO:0010596 | negative regulation of endothelial cell migration | 17068149 |
| Tgene | ACVRL1 | GO:0030308 | negative regulation of cell growth | 17068149 |
| Tgene | ACVRL1 | GO:0030513 | positive regulation of BMP signaling pathway | 17068149 |
| Tgene | ACVRL1 | GO:0045893 | positive regulation of transcription, DNA-templated | 12393874 |
| Tgene | ACVRL1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19366699 |
| Tgene | ACVRL1 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 19494318 |
| Fusion gene information from three resources (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 | LD | LIHC | TCGA-DD-A3A5-01A | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 |
| 5CDS-5UTR | ENST00000257963 | ENST00000388922 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| 5CDS-5UTR | ENST00000257963 | ENST00000550683 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| 5CDS-5UTR | ENST00000257963 | ENST00000419526 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| 5CDS-intron | ENST00000257963 | ENST00000550084 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| 5CDS-5UTR | ENST00000541224 | ENST00000388922 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| 5CDS-5UTR | ENST00000541224 | ENST00000550683 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| 5CDS-5UTR | ENST00000541224 | ENST00000419526 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| 5CDS-intron | ENST00000541224 | ENST00000550084 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| 5CDS-5UTR | ENST00000426655 | ENST00000388922 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| 5CDS-5UTR | ENST00000426655 | ENST00000550683 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| 5CDS-5UTR | ENST00000426655 | ENST00000419526 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| 5CDS-intron | ENST00000426655 | ENST00000550084 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| 5CDS-5UTR | ENST00000415850 | ENST00000388922 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| 5CDS-5UTR | ENST00000415850 | ENST00000550683 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| 5CDS-5UTR | ENST00000415850 | ENST00000419526 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| 5CDS-intron | ENST00000415850 | ENST00000550084 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| intron-5UTR | ENST00000542485 | ENST00000388922 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| intron-5UTR | ENST00000542485 | ENST00000550683 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| intron-5UTR | ENST00000542485 | ENST00000419526 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| intron-intron | ENST00000542485 | ENST00000550084 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| intron-5UTR | ENST00000563121 | ENST00000388922 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| intron-5UTR | ENST00000563121 | ENST00000550683 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| intron-5UTR | ENST00000563121 | ENST00000419526 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
| intron-intron | ENST00000563121 | ENST00000550084 | ACVR1B | chr12 | 52345618 | + | ACVRL1 | chr12 | 52306254 | + |
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FusionProtFeatures for ACVR1B_ACVRL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ACVR1B | ACVRL1 |
| Transmembrane serine/threonine kinase activin type-1receptor forming an activin receptor complex with activin receptortype-2 (ACVR2A or ACVR2B). Transduces the activin signal from thecell surface to the cytoplasm and is thus regulating a manyphysiological and pathological processes including neuronaldifferentiation and neuronal survival, hair follicle developmentand cycling, FSH production by the pituitary gland, wound healing,extracellular matrix production, immunosuppression andcarcinogenesis. Activin is also thought to have a paracrine orautocrine role in follicular development in the ovary. Within thereceptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as aprimary activin receptors whereas the type-1 receptors like ACVR1Bact as downstream transducers of activin signals. Activin binds totype-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 thenphosphorylates and activates the type-1 receptor such as ACVR1B.Once activated, the type-1 receptor binds and phosphorylates theSMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activinreceptor and subsequent phosphorylation, SMAD2 and SMAD3 arereleased into the cytoplasm where they interact with the commonpartner SMAD4. This SMAD complex translocates into the nucleuswhere it mediates activin-induced transcription. Inhibitory SMAD7,which is recruited to ACVR1B through FKBP1A, can prevent theassociation of SMAD2 and SMAD3 with the activin receptor complex,thereby blocking the activin signal. Activin signal transductionis also antagonized by the binding to the receptor of inhibin-Bvia the IGSF1 inhibin coreceptor. ACVR1B also phosphorylates TDP2.{ECO:0000269|PubMed:12364468, ECO:0000269|PubMed:12639945,ECO:0000269|PubMed:18039968, ECO:0000269|PubMed:20226172,ECO:0000269|PubMed:8196624, ECO:0000269|PubMed:9032295,ECO:0000269|PubMed:9892009}. | Type I receptor for TGF-beta family ligands BMP9/GDF2and BMP10 and important regulator of normal blood vesseldevelopment. On ligand binding, forms a receptor complexconsisting of two type II and two type I transmembraneserine/threonine kinases. Type II receptors phosphorylate andactivate type I receptors which autophosphorylate, then bind andactivate SMAD transcriptional regulators. May bind activin aswell. {ECO:0000269|PubMed:22718755, ECO:0000269|PubMed:22799562,ECO:0000269|PubMed:26176610}. |
| 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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FusionGeneSequence for ACVR1B_ACVRL1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (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 ACVR1B_ACVRL1 |
| 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 |
| ACVR1B | BMPR2, ACVR2B, INHBB, INHBA, SMAD7, SMAD2, SMAD3, ACVR2A, ACVR1, TDGF1, SNX2, SNX1, FKBP1A, SMURF1, TSC22D1, NEDD4L, IGSF1, ELAVL1, BAMBI, SMAD6, HSP90AA1, PEG10, PRKACB, BAG6, OS9, RXRA, SPINT2, TSPAN3, TGFBR2, TMEM30A, TSPAN17, HEPACAM2, OTUB1, NTRK1, TSNAX, VPS16, ZNF644, XIAP, GPR114, TMEM30B, MRAP2 | ACVRL1 | TGFB1, SNX6, TSC22D1, IGSF1, HSP90AA1, BAMBI, ENG, PEG10, NR1H2, CSNK2B, FKBP1A, SMAD1, INHBA, TGFBR1, ACVR1, KRAS, PDXDC2P, SLC25A24 |
| - 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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RelatedDrugs for ACVR1B_ACVRL1 |
| Drugs targeting genes involved in this fusion gene. (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 ACVR1B_ACVRL1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ACVRL1 | C1838163 | OSLER-RENDU-WEBER SYNDROME 2 | 11 | CTD_human;UNIPROT |
| Tgene | ACVRL1 | C0039445 | Hereditary hemorrhagic telangiectasia | 1 | CTD_human;ORPHANET |
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