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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:ACVRL1-SH3D19 (FusionGDB2 ID:HG94TG152503) |
Fusion Gene Summary for ACVRL1-SH3D19 |
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Fusion gene information | Fusion gene name: ACVRL1-SH3D19 | Fusion gene ID: hg94tg152503 | 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 | ('ACVRL1')('SH3D19') 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 | 20200329 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000550683, ENST00000388922, ENST00000419526, ENST00000550084, | ||
Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 9 X 17 X 13=1989 |
# samples | 4 | 20 | |
** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(20/1989*10)=-3.31397137105902 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] | ||
Most frequent breakpoint | ACVRL1(52315668)-SH3D19(152047442), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for ACVRL1-SH3D19 |
![]() * 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 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for ACVRL1-SH3D19 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for ACVRL1-SH3D19 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:52315668/:152047442) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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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Fusion Gene Sequence for ACVRL1-SH3D19 |
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Fusion Gene PPI Analysis 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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Related Drugs for ACVRL1-SH3D19 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for ACVRL1-SH3D19 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ACVRL1 | C1838163 | OSLER-RENDU-WEBER SYNDROME 2 | 23 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | ACVRL1 | C1832529 | HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION | 11 | CLINGEN |
Hgene | ACVRL1 | C0340543 | Familial primary pulmonary hypertension | 6 | GENOMICS_ENGLAND;ORPHANET |
Hgene | ACVRL1 | C1701939 | Familial pulmonary arterial hypertension | 5 | ORPHANET |
Hgene | ACVRL1 | C0005779 | Blood Coagulation Disorders | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C0014591 | Epistaxis | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C0020542 | Pulmonary Hypertension | 1 | CTD_human |
Hgene | ACVRL1 | C0039445 | Hereditary hemorrhagic telangiectasia | 1 | CTD_human |
Hgene | ACVRL1 | C0039446 | Telangiectasis | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C0155675 | Pulmonary Arteriovenous Fistulas | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C0241790 | Congenital pulmonary arteriovenous malformation | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C0520557 | Arteriovenous malformation of liver | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C1150929 | 2-oxo-hept-3-ene-1,7-dioate hydratase activity | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C1458140 | Bleeding tendency | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C1857690 | Pulmonary arteriovenous malformation | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C2973725 | Pulmonary arterial hypertension | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C3203102 | Idiopathic pulmonary arterial hypertension | 1 | GENOMICS_ENGLAND |
Hgene | ACVRL1 | C3850148 | Vascular Remodeling | 1 | CTD_human |
Hgene | ACVRL1 | C3852953 | Pulmonary Arterial Remodeling | 1 | CTD_human |
Hgene | ACVRL1 | C4551861 | Telangiectasia, Hereditary Hemorrhagic, Type 1 | 1 | CTD_human |