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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 |