![]() |
||||||
|
![]() | 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:BIRC6-DMD (FusionGDB2 ID:HG57448TG1756) |
Fusion Gene Summary for BIRC6-DMD |
![]() |
Fusion gene information | Fusion gene name: BIRC6-DMD | Fusion gene ID: hg57448tg1756 | Hgene | Tgene | Gene symbol | BIRC6 | DMD | Gene ID | 57448 | 1756 |
Gene name | baculoviral IAP repeat containing 6 | dystrophin | |
Synonyms | APOLLON|BRUCE | BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85 | |
Cytomap | ('BIRC6')('DMD') 2p22.3 | Xp21.2-p21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | baculoviral IAP repeat-containing protein 6BIR repeat-containing ubiquitin-conjugating enzymeRING-type E3 ubiquitin transferase BIRC6ubiquitin-conjugating BIR-domain enzyme apollon | dystrophin | |
Modification date | 20200313 | 20200329 | |
UniProtAcc | . | P11532 | |
Ensembl transtripts involved in fusion gene | ENST00000421745, | ||
Fusion gene scores | * DoF score | 21 X 23 X 16=7728 | 35 X 39 X 12=16380 |
# samples | 33 | 41 | |
** MAII score | log2(33/7728*10)=-4.54955716458996 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(41/16380*10)=-5.32016763702292 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: BIRC6 [Title/Abstract] AND DMD [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | BIRC6(32614459)-DMD(33066823), # 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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | DMD | GO:0043043 | peptide biosynthetic process | 16000376 |
![]() * 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 |
Top |
Fusion Gene ORF analysis for BIRC6-DMD |
![]() * 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 |
![]() |
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) |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
Top |
Fusion Genomic Features for BIRC6-DMD |
![]() |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
Top |
Fusion Protein Features for BIRC6-DMD |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:32614459/:33066823) - 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. |
![]() |
![]() |
Hgene | Tgene |
. | DMD |
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: Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission. {ECO:0000250|UniProtKB:P11531, ECO:0000269|PubMed:16710609}. |
![]() * 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 |
Top |
Fusion Gene Sequence for BIRC6-DMD |
![]() |
Top |
Fusion Gene PPI Analysis for BIRC6-DMD |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for BIRC6-DMD |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | DMD | P11532 | DB15593 | Golodirsen | Inducer | Biotech | Approved |
Top |
Related Diseases for BIRC6-DMD |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BIRC6 | C0006826 | Malignant Neoplasms | 1 | CTD_human |
Hgene | BIRC6 | C0027651 | Neoplasms | 1 | CTD_human |
Hgene | BIRC6 | C0086692 | Benign Neoplasm | 1 | CTD_human |
Tgene | C0013264 | Muscular Dystrophy, Duchenne | 18 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0917713 | Becker Muscular Dystrophy | 13 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C3542021 | Duchenne and Becker Muscular Dystrophy | 11 | CTD_human | |
Tgene | C0026850 | Muscular Dystrophy | 4 | CTD_human | |
Tgene | C3668940 | Dmd-Associated Dilated Cardiomyopathy | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0033141 | Cardiomyopathies, Primary | 3 | CTD_human | |
Tgene | C0036529 | Myocardial Diseases, Secondary | 3 | CTD_human | |
Tgene | C0878544 | Cardiomyopathies | 3 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C0006663 | Calcinosis | 1 | CTD_human | |
Tgene | C0007193 | Cardiomyopathy, Dilated | 1 | CTD_human | |
Tgene | C0018800 | Cardiomegaly | 1 | CTD_human | |
Tgene | C0023269 | leiomyosarcoma | 1 | CTD_human | |
Tgene | C0026851 | Muscular Dystrophy, Animal | 1 | CTD_human | |
Tgene | C0027540 | Necrosis | 1 | CTD_human | |
Tgene | C0027626 | Neoplasm Invasiveness | 1 | CTD_human | |
Tgene | C0027627 | Neoplasm Metastasis | 1 | CTD_human | |
Tgene | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human | |
Tgene | C0038220 | Status Epilepticus | 1 | CTD_human | |
Tgene | C0151786 | Muscle Weakness | 1 | CTD_human | |
Tgene | C0205815 | Leiomyosarcoma, Epithelioid | 1 | CTD_human | |
Tgene | C0205816 | Leiomyosarcoma, Myxoid | 1 | CTD_human | |
Tgene | C0206656 | Embryonal Rhabdomyosarcoma | 1 | CTD_human | |
Tgene | C0238198 | Gastrointestinal Stromal Tumors | 1 | CTD_human | |
Tgene | C0242973 | Ventricular Dysfunction | 1 | CTD_human | |
Tgene | C0263628 | Tumoral calcinosis | 1 | CTD_human | |
Tgene | C0270823 | Petit mal status | 1 | CTD_human | |
Tgene | C0311335 | Grand Mal Status Epilepticus | 1 | CTD_human | |
Tgene | C0340427 | Familial dilated cardiomyopathy | 1 | ORPHANET | |
Tgene | C0393734 | Complex Partial Status Epilepticus | 1 | CTD_human | |
Tgene | C0521174 | Microcalcification | 1 | CTD_human | |
Tgene | C0751522 | Status Epilepticus, Subclinical | 1 | CTD_human | |
Tgene | C0751523 | Non-Convulsive Status Epilepticus | 1 | CTD_human | |
Tgene | C0751524 | Simple Partial Status Epilepticus | 1 | CTD_human | |
Tgene | C1136382 | Sclerocystic Ovaries | 1 | CTD_human | |
Tgene | C1383860 | Cardiac Hypertrophy | 1 | CTD_human | |
Tgene | C1449563 | Cardiomyopathy, Familial Idiopathic | 1 | CTD_human | |
Tgene | C2931498 | Mental Retardation, X-Linked 1 | 1 | ORPHANET | |
Tgene | C3179349 | Gastrointestinal Stromal Sarcoma | 1 | CTD_human |