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Fusion gene ID: 662 |
FusionGeneSummary for ACVRL1_SH3D19 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ACVRL1_SH3D19 | Fusion gene ID: 662 | Hgene | Tgene | Gene symbol | ACVRL1 | SH3D19 | Gene ID | 94 | 152503 |
| Gene name | activin A receptor like type 1 | SH3 domain containing 19 | |
| Synonyms | ACVRLK1|ALK-1|ALK1|HHT|HHT2|ORW2|SKR3|TSR-I | EBP|EVE1|Eve-1|Kryn|SH3P19 | |
| Cytomap | 12q13.13 | 4q31.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 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 | SH3 domain-containing protein 19ADAM-binding protein Eve-1EEN-binding proteinSH3 domain protein D19 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P37023 | Q5HYK7 | |
| Ensembl transtripts involved in fusion gene | ENST00000388922, ENST00000550683, ENST00000419526, ENST00000550084, | ENST00000409598, ENST00000424281, ENST00000304527, ENST00000455740, ENST00000409252, ENST00000514152, ENST00000427414, ENST00000604030, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 6 X 8 X 8=384 |
| # samples | 3 | 12 | |
| ** MAII score | log2(3/4*10)=2.90689059560852 | log2(12/384*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ACVRL1 [Title/Abstract] AND SH3D19 [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 | ACVRL1 | GO:0006468 | protein phosphorylation | 12065756 |
| Hgene | ACVRL1 | GO:0007165 | signal transduction | 15702480 |
| Hgene | ACVRL1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 15702480 |
| Hgene | ACVRL1 | GO:0010596 | negative regulation of endothelial cell migration | 17068149 |
| Hgene | ACVRL1 | GO:0030308 | negative regulation of cell growth | 17068149 |
| Hgene | ACVRL1 | GO:0030513 | positive regulation of BMP signaling pathway | 17068149 |
| Hgene | ACVRL1 | GO:0045893 | positive regulation of transcription, DNA-templated | 12393874 |
| Hgene | ACVRL1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19366699 |
| Hgene | 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 |
| ChiTaRS3.1 | BF843581 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - | ||
| ChiTaRS3.1 | BG013238 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| * 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 |
| intron-intron | ENST00000388922 | ENST00000409598 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000388922 | ENST00000424281 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000388922 | ENST00000304527 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000388922 | ENST00000455740 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000388922 | ENST00000409252 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000388922 | ENST00000514152 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000388922 | ENST00000427414 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000388922 | ENST00000604030 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| 3UTR-intron | ENST00000550683 | ENST00000409598 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| 3UTR-intron | ENST00000550683 | ENST00000424281 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| 3UTR-intron | ENST00000550683 | ENST00000304527 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| 3UTR-intron | ENST00000550683 | ENST00000455740 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| 3UTR-intron | ENST00000550683 | ENST00000409252 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| 3UTR-intron | ENST00000550683 | ENST00000514152 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| 3UTR-intron | ENST00000550683 | ENST00000427414 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| 3UTR-intron | ENST00000550683 | ENST00000604030 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000419526 | ENST00000409598 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000419526 | ENST00000424281 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000419526 | ENST00000304527 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000419526 | ENST00000455740 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000419526 | ENST00000409252 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000419526 | ENST00000514152 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000419526 | ENST00000427414 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000419526 | ENST00000604030 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000550084 | ENST00000409598 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000550084 | ENST00000424281 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000550084 | ENST00000304527 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000550084 | ENST00000455740 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000550084 | ENST00000409252 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000550084 | ENST00000514152 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000550084 | ENST00000427414 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
| intron-intron | ENST00000550084 | ENST00000604030 | ACVRL1 | chr12 | 52315668 | - | SH3D19 | chr4 | 152047442 | - |
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FusionProtFeatures for ACVRL1_SH3D19 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ACVRL1 | SH3D19 |
| 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}. | May play a role in regulating A disintegrin andmetalloproteases (ADAMs) in the signaling of EGFR-ligand shedding.May be involved in suppression of Ras-induced cellulartransformation and Ras-mediated activation of ELK1. Plays a rolein the regulation of cell morphology and cytoskeletalorganization. {ECO:0000269|PubMed:14551139,ECO:0000269|PubMed:15280379, ECO:0000269|PubMed:21834987}. |
| 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 ACVRL1_SH3D19 |
| 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 ACVRL1_SH3D19 |
| 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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RelatedDrugs for ACVRL1_SH3D19 |
| 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 ACVRL1_SH3D19 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ACVRL1 | C1838163 | OSLER-RENDU-WEBER SYNDROME 2 | 11 | CTD_human;UNIPROT |
| Hgene | ACVRL1 | C0039445 | Hereditary hemorrhagic telangiectasia | 1 | CTD_human;ORPHANET |
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