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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:CWC22-THBS1 (FusionGDB2 ID:HG57703TG7057) |
Fusion Gene Summary for CWC22-THBS1 |
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Fusion gene information | Fusion gene name: CWC22-THBS1 | Fusion gene ID: hg57703tg7057 | Hgene | Tgene | Gene symbol | CWC22 | THBS1 | Gene ID | 57703 | 7057 |
Gene name | CWC22 spliceosome associated protein homolog | thrombospondin 1 | |
Synonyms | EIF4GL|NCM|fSAPb | THBS|THBS-1|TSP|TSP-1|TSP1 | |
Cytomap | ('CWC22')('THBS1') 2q31.3 | 15q14 | |
Type of gene | protein-coding | protein-coding | |
Description | pre-mRNA-splicing factor CWC22 homologCWC22 homolog, spliceosome-associated proteinCWC22 spliceosome-associated proteinfunctional spliceosome-associated protein bnucampholin homolog | thrombospondin-1glycoprotein Gthrombospondin-1p180thrombospondin-p50 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000295749, ENST00000410053, | ||
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 12 X 13 X 5=780 |
# samples | 1 | 12 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(12/780*10)=-2.70043971814109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CWC22 [Title/Abstract] AND THBS1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CWC22(180864733)-THBS1(39875888), # 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 | CWC22 | GO:0000398 | mRNA splicing, via spliceosome | 29360106 |
Tgene | THBS1 | GO:0001937 | negative regulation of endothelial cell proliferation | 16150726|17996481 |
Tgene | THBS1 | GO:0001953 | negative regulation of cell-matrix adhesion | 16150726|17416590 |
Tgene | THBS1 | GO:0002581 | negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | 16882710 |
Tgene | THBS1 | GO:0002605 | negative regulation of dendritic cell antigen processing and presentation | 16882710 |
Tgene | THBS1 | GO:0006954 | inflammatory response | 23144964 |
Tgene | THBS1 | GO:0007050 | cell cycle arrest | 17596205 |
Tgene | THBS1 | GO:0008284 | positive regulation of cell proliferation | 24615654 |
Tgene | THBS1 | GO:0009749 | response to glucose | 18096704 |
Tgene | THBS1 | GO:0010595 | positive regulation of endothelial cell migration | 18555217 |
Tgene | THBS1 | GO:0010596 | negative regulation of endothelial cell migration | 18555217 |
Tgene | THBS1 | GO:0010748 | negative regulation of plasma membrane long-chain fatty acid transport | 17416590 |
Tgene | THBS1 | GO:0010751 | negative regulation of nitric oxide mediated signal transduction | 16150726|17416590 |
Tgene | THBS1 | GO:0010754 | negative regulation of cGMP-mediated signaling | 17416590 |
Tgene | THBS1 | GO:0010757 | negative regulation of plasminogen activation | 6438154 |
Tgene | THBS1 | GO:0010763 | positive regulation of fibroblast migration | 18555217 |
Tgene | THBS1 | GO:0016477 | cell migration | 18555217 |
Tgene | THBS1 | GO:0016525 | negative regulation of angiogenesis | 16150726|17596205|17996481|18726995 |
Tgene | THBS1 | GO:0018149 | peptide cross-linking | 3997886 |
Tgene | THBS1 | GO:0030194 | positive regulation of blood coagulation | 3997886 |
Tgene | THBS1 | GO:0030335 | positive regulation of cell migration | 15700281 |
Tgene | THBS1 | GO:0030511 | positive regulation of transforming growth factor beta receptor signaling pathway | 18555217 |
Tgene | THBS1 | GO:0032026 | response to magnesium ion | 6777381 |
Tgene | THBS1 | GO:0032695 | negative regulation of interleukin-12 production | 16882710 |
Tgene | THBS1 | GO:0040037 | negative regulation of fibroblast growth factor receptor signaling pathway | 17996481 |
Tgene | THBS1 | GO:0042535 | positive regulation of tumor necrosis factor biosynthetic process | 18726995 |
Tgene | THBS1 | GO:0043032 | positive regulation of macrophage activation | 18757424 |
Tgene | THBS1 | GO:0043066 | negative regulation of apoptotic process | 18653767 |
Tgene | THBS1 | GO:0043154 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 18653767 |
Tgene | THBS1 | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 18555217 |
Tgene | THBS1 | GO:0043537 | negative regulation of blood vessel endothelial cell migration | 18555217 |
Tgene | THBS1 | GO:0043652 | engulfment of apoptotic cell | 16882710 |
Tgene | THBS1 | GO:0045727 | positive regulation of translation | 15700281 |
Tgene | THBS1 | GO:0048661 | positive regulation of smooth muscle cell proliferation | 24615654 |
Tgene | THBS1 | GO:0050921 | positive regulation of chemotaxis | 18555217 |
Tgene | THBS1 | GO:0051592 | response to calcium ion | 6777381|18757424 |
Tgene | THBS1 | GO:0051897 | positive regulation of protein kinase B signaling | 18653767 |
Tgene | THBS1 | GO:0051918 | negative regulation of fibrinolysis | 6438154 |
Tgene | THBS1 | GO:1902043 | positive regulation of extrinsic apoptotic signaling pathway via death domain receptors | 18726995 |
Tgene | THBS1 | GO:2000353 | positive regulation of endothelial cell apoptotic process | 18726995 |
Tgene | THBS1 | GO:2000379 | positive regulation of reactive oxygen species metabolic process | 18757424 |
Tgene | THBS1 | GO:2001027 | negative regulation of endothelial cell chemotaxis | 16150726 |
![]() * 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 CWC22-THBS1 |
![]() * 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 CWC22-THBS1 |
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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 CWC22-THBS1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:180864733/:39875888) - 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 CWC22-THBS1 |
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Fusion Gene PPI Analysis for CWC22-THBS1 |
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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 CWC22-THBS1 |
![]() (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 CWC22-THBS1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C0006142 | Malignant neoplasm of breast | 1 | CTD_human | |
Tgene | C0011875 | Diabetic Angiopathies | 1 | CTD_human | |
Tgene | C0011884 | Diabetic Retinopathy | 1 | CTD_human | |
Tgene | C0016059 | Fibrosis | 1 | CTD_human | |
Tgene | C0023890 | Liver Cirrhosis | 1 | CTD_human | |
Tgene | C0025945 | Microangiopathy, Diabetic | 1 | CTD_human | |
Tgene | C0027707 | Nephritis, Interstitial | 1 | CTD_human | |
Tgene | C0035126 | Reperfusion Injury | 1 | CTD_human | |
Tgene | C0036341 | Schizophrenia | 1 | CTD_human | |
Tgene | C0041349 | Nephritis, Tubulointerstitial | 1 | CTD_human | |
Tgene | C0087031 | Juvenile-Onset Still Disease | 1 | CTD_human | |
Tgene | C0239946 | Fibrosis, Liver | 1 | CTD_human | |
Tgene | C0678222 | Breast Carcinoma | 1 | CTD_human | |
Tgene | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human | |
Tgene | C1458155 | Mammary Neoplasms | 1 | CTD_human | |
Tgene | C1623038 | Cirrhosis | 1 | CTD_human | |
Tgene | C3495559 | Juvenile arthritis | 1 | CTD_human | |
Tgene | C3714758 | Juvenile psoriatic arthritis | 1 | CTD_human | |
Tgene | C4552091 | Polyarthritis, Juvenile, Rheumatoid Factor Negative | 1 | CTD_human | |
Tgene | C4704862 | Polyarthritis, Juvenile, Rheumatoid Factor Positive | 1 | CTD_human | |
Tgene | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |