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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:VWF-ACTN1 (FusionGDB2 ID:HG7450TG87) |
Fusion Gene Summary for VWF-ACTN1 |
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Fusion gene information | Fusion gene name: VWF-ACTN1 | Fusion gene ID: hg7450tg87 | Hgene | Tgene | Gene symbol | VWF | ACTN1 | Gene ID | 7450 | 87 |
Gene name | von Willebrand factor | actinin alpha 1 | |
Synonyms | F8VWF|VWD | BDPLT15 | |
Cytomap | ('VWF')('ACTN1') 12p13.31 | 14q24.1|14q22-q24 | |
Type of gene | protein-coding | protein-coding | |
Description | von Willebrand factorcoagulation factor VIII VWF | alpha-actinin-1F-actin cross-linking proteinactinin 1 smooth musclealpha-actinin cytoskeletal isoformepididymis secretory sperm binding proteinnon-muscle alpha-actinin-1 | |
Modification date | 20200329 | 20200327 | |
UniProtAcc | . | P12814 | |
Ensembl transtripts involved in fusion gene | ENST00000261405, ENST00000545906, ENST00000572068, | ||
Fusion gene scores | * DoF score | 7 X 7 X 4=196 | 17 X 18 X 5=1530 |
# samples | 8 | 20 | |
** MAII score | log2(8/196*10)=-1.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(20/1530*10)=-2.93545974780529 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: VWF [Title/Abstract] AND ACTN1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | VWF(6092379)-ACTN1(69392415), # 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 | VWF | GO:0007155 | cell adhesion | 10764791 |
Hgene | VWF | GO:0030168 | platelet activation | 8565074 |
Hgene | VWF | GO:0031589 | cell-substrate adhesion | 9079671 |
![]() * 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 VWF-ACTN1 |
![]() * 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 VWF-ACTN1 |
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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 VWF-ACTN1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:6092379/:69392415) - 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 |
. | ACTN1 |
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: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. |
![]() * 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 VWF-ACTN1 |
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Fusion Gene PPI Analysis for VWF-ACTN1 |
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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 VWF-ACTN1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | ACTN1 | P12814 | DB06773 | Human calcitonin | Incorporation into and destabilization | Biotech | Approved|Investigational |
Tgene | ACTN1 | P12814 | DB09130 | Copper | Small molecule | Approved|Investigational |
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Related Diseases for VWF-ACTN1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | VWF | C1264040 | von Willebrand Disease, Type 2 | 30 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | VWF | C1264041 | von Willebrand Disease, Type 3 | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | VWF | C0020538 | Hypertensive disease | 3 | CTD_human |
Hgene | VWF | C1264039 | von Willebrand Disease, Type 1 | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | VWF | C0040053 | Thrombosis | 2 | CTD_human |
Hgene | VWF | C0087086 | Thrombus | 2 | CTD_human |
Hgene | VWF | C0001956 | Alcohol Use Disorder | 1 | PSYGENET |
Hgene | VWF | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Hgene | VWF | C0004238 | Atrial Fibrillation | 1 | CTD_human |
Hgene | VWF | C0007222 | Cardiovascular Diseases | 1 | CTD_human |
Hgene | VWF | C0018801 | Heart failure | 1 | CTD_human |
Hgene | VWF | C0018802 | Congestive heart failure | 1 | CTD_human |
Hgene | VWF | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
Hgene | VWF | C0023212 | Left-Sided Heart Failure | 1 | CTD_human |
Hgene | VWF | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | VWF | C0079102 | Cerebral Thrombosis | 1 | CTD_human |
Hgene | VWF | C0235480 | Paroxysmal atrial fibrillation | 1 | CTD_human |
Hgene | VWF | C0235527 | Heart Failure, Right-Sided | 1 | CTD_human |
Hgene | VWF | C0752143 | Intracranial Thrombosis | 1 | CTD_human |
Hgene | VWF | C0752144 | Brain Thrombosis | 1 | CTD_human |
Hgene | VWF | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
Hgene | VWF | C0936261 | Brain Thrombus | 1 | CTD_human |
Hgene | VWF | C0936263 | Cerebral Thrombus | 1 | CTD_human |
Hgene | VWF | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
Hgene | VWF | C1959583 | Myocardial Failure | 1 | CTD_human |
Hgene | VWF | C1961112 | Heart Decompensation | 1 | CTD_human |
Hgene | VWF | C2585653 | Persistent atrial fibrillation | 1 | CTD_human |
Hgene | VWF | C3468561 | familial atrial fibrillation | 1 | CTD_human |
Hgene | VWF | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
Hgene | VWF | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Hgene | VWF | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
Tgene | C3554663 | BLEEDING DISORDER, PLATELET-TYPE, 15 | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human | |
Tgene | C4304021 | Autosomal dominant macrothrombocytopenia | 1 | ORPHANET |