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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:VWDE-BARD1 (FusionGDB2 ID:HG221806TG580) |
Fusion Gene Summary for VWDE-BARD1 |
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Fusion gene information | Fusion gene name: VWDE-BARD1 | Fusion gene ID: hg221806tg580 | Hgene | Tgene | Gene symbol | VWDE | BARD1 | Gene ID | 221806 | 580 |
Gene name | von Willebrand factor D and EGF domains | BRCA1 associated RING domain 1 | |
Synonyms | - | - | |
Cytomap | ('VWDE')('BARD1') 7p21.3 | 2q35 | |
Type of gene | protein-coding | protein-coding | |
Description | von Willebrand factor D and EGF domain-containing protein | BRCA1-associated RING domain protein 1BRCA1-associated RING domain gene 1RING-type E3 ubiquitin transferase BARD1 | |
Modification date | 20200313 | 20200322 | |
UniProtAcc | . | Q99728 | |
Ensembl transtripts involved in fusion gene | ENST00000275358, | ||
Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 4 X 4 X 3=48 |
# samples | 3 | 4 | |
** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: VWDE [Title/Abstract] AND BARD1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | VWDE(12371780)-BARD1(215617190), # 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 |
Tgene | BARD1 | GO:0046826 | negative regulation of protein export from nucleus | 15265711 |
Tgene | BARD1 | GO:0085020 | protein K6-linked ubiquitination | 12890688|20351172 |
![]() * 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 VWDE-BARD1 |
![]() * 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 VWDE-BARD1 |
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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 VWDE-BARD1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:12371780/:215617190) - 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 |
. | BARD1 |
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: E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP II stability by inhibiting pre-mRNA 3' cleavage. {ECO:0000269|PubMed:12890688, ECO:0000269|PubMed:14976165, ECO:0000269|PubMed:20351172}. |
![]() * 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 VWDE-BARD1 |
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Fusion Gene PPI Analysis for VWDE-BARD1 |
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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 VWDE-BARD1 |
![]() (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 VWDE-BARD1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C0346153 | Breast Cancer, Familial | 11 | CLINGEN | |
Tgene | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 4 | CLINGEN | |
Tgene | C1112155 | Hereditary non-polyposis colorectal cancer syndrome | 4 | CLINGEN | |
Tgene | C1333990 | Hereditary Nonpolyposis Colorectal Cancer | 4 | CLINGEN | |
Tgene | C1333991 | Hereditary Non-Polyposis Colon Cancer Type 2 | 4 | CLINGEN | |
Tgene | C2936783 | Colorectal cancer, hereditary nonpolyposis, type 1 | 4 | CLINGEN | |
Tgene | C0027819 | Neuroblastoma | 2 | CTD_human | |
Tgene | C0677776 | Hereditary Breast and Ovarian Cancer Syndrome | 1 | ORPHANET |