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Fusion gene ID: 654 |
FusionGeneSummary for ACVR1_SGCD |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ACVR1_SGCD | Fusion gene ID: 654 | Hgene | Tgene | Gene symbol | ACVR1 | SGCD | Gene ID | 90 | 6444 |
| Gene name | activin A receptor type 1 | sarcoglycan delta | |
| Synonyms | ACTRI|ACVR1A|ACVRLK2|ALK2|FOP|SKR1|TSRI | 35DAG|CMD1L|DAGD|SG-delta|SGCDP|SGD | |
| Cytomap | 2q24.1 | 5q33.2-q33.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | activin receptor type-1TGF-B superfamily receptor type Iactivin A receptor, type Iactivin A receptor, type II-like kinase 2activin receptor type Iactivin receptor-like kinase 2hydroxyalkyl-protein kinaseserine/threonine-protein kinase receptor R1 | delta-sarcoglycan35 kDa dystrophin-associated glycoproteindelta-SGdystrophin associated glycoprotein, delta sarcoglycanplacental delta sarcoglycansarcoglycan, delta (35kDa dystrophin-associated glycoprotein) | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q04771 | Q92629 | |
| Ensembl transtripts involved in fusion gene | ENST00000263640, ENST00000409283, ENST00000434821, ENST00000410057, ENST00000487456, | ENST00000517913, ENST00000435422, ENST00000447401, ENST00000337851, | |
| Fusion gene scores | * DoF score | 5 X 4 X 5=100 | 7 X 7 X 4=196 |
| # samples | 7 | 7 | |
| ** MAII score | log2(7/100*10)=-0.514573172829758 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ACVR1 [Title/Abstract] AND SGCD [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 | ACVR1 | GO:0006468 | protein phosphorylation | 12065756|19506109 |
| Hgene | ACVR1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 8242742 |
| Hgene | ACVR1 | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 19506109 |
| Hgene | ACVR1 | GO:0018107 | peptidyl-threonine phosphorylation | 19736306 |
| Hgene | ACVR1 | GO:0030509 | BMP signaling pathway | 18436533 |
| Hgene | ACVR1 | GO:0032924 | activin receptor signaling pathway | 19506109 |
| Hgene | ACVR1 | GO:0045893 | positive regulation of transcription, DNA-templated | 8242742 |
| Hgene | ACVR1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19506109 |
| Hgene | ACVR1 | GO:0060389 | pathway-restricted SMAD protein phosphorylation | 19736306 |
| Hgene | ACVR1 | GO:2000017 | positive regulation of determination of dorsal identity | 19506109 |
| 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 | BF873192 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
| * 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 | ENST00000263640 | ENST00000517913 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
| intron-intron | ENST00000263640 | ENST00000435422 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
| intron-intron | ENST00000263640 | ENST00000447401 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
| intron-intron | ENST00000263640 | ENST00000337851 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
| intron-intron | ENST00000409283 | ENST00000517913 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
| intron-intron | ENST00000409283 | ENST00000435422 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
| intron-intron | ENST00000409283 | ENST00000447401 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
| intron-intron | ENST00000409283 | ENST00000337851 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
| intron-intron | ENST00000434821 | ENST00000517913 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
| intron-intron | ENST00000434821 | ENST00000435422 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
| intron-intron | ENST00000434821 | ENST00000447401 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
| intron-intron | ENST00000434821 | ENST00000337851 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
| intron-intron | ENST00000410057 | ENST00000517913 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
| intron-intron | ENST00000410057 | ENST00000435422 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
| intron-intron | ENST00000410057 | ENST00000447401 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
| intron-intron | ENST00000410057 | ENST00000337851 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
| intron-intron | ENST00000487456 | ENST00000517913 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
| intron-intron | ENST00000487456 | ENST00000435422 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
| intron-intron | ENST00000487456 | ENST00000447401 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
| intron-intron | ENST00000487456 | ENST00000337851 | ACVR1 | chr2 | 158601300 | - | SGCD | chr5 | 155275089 | - |
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FusionProtFeatures for ACVR1_SGCD |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ACVR1 | SGCD |
| 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 activin. May be involvedfor left-right pattern formation during embryogenesis (Bysimilarity). {ECO:0000250}. | Component of the sarcoglycan complex, a subcomplex ofthe dystrophin-glycoprotein complex which forms a link between theF-actin cytoskeleton and the extracellular matrix. |
| 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 ACVR1_SGCD |
| 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 ACVR1_SGCD |
| 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 ACVR1_SGCD |
| 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 ACVR1_SGCD |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ACVR1 | C0017638 | Glioma | 3 | CTD_human |
| Hgene | ACVR1 | C0016037 | Fibrodysplasia Ossificans Progressiva | 2 | ORPHANET;UNIPROT |
| Hgene | ACVR1 | C0004114 | Astrocytoma | 1 | CTD_human |
| Hgene | ACVR1 | C0242488 | Acute Lung Injury | 1 | CTD_human |
| Hgene | ACVR1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | SGCD | C0878544 | Cardiomyopathies | 2 | CTD_human |
| Tgene | SGCD | C1832525 | Limb-girdle muscular dystrophy type 2F | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | SGCD | C1847667 | CARDIOMYOPATHY, DILATED, 1L | 1 | CTD_human;UNIPROT |
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