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Fusion gene ID: 662 |
FusionGeneSummary for ACVRL1_SH3D19 |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ACVRL1_SH3D19 |
![]() (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 |
![]() (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 |