|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 9866 |
FusionGeneSummary for DHCR24_THBS1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DHCR24_THBS1 | Fusion gene ID: 9866 | Hgene | Tgene | Gene symbol | DHCR24 | THBS1 | Gene ID | 1718 | 7057 |
| Gene name | 24-dehydrocholesterol reductase | thrombospondin 1 | |
| Synonyms | DCE|Nbla03646|SELADIN1|seladin-1 | THBS|THBS-1|TSP|TSP-1|TSP1 | |
| Cytomap | 1p32.3 | 15q14 | |
| Type of gene | protein-coding | protein-coding | |
| Description | delta(24)-sterol reductase3 beta-hydroxysterol delta 24-reductasedesmosterol-to-cholesterol enzymediminuto/dwarf1 homologseladin 1selective AD indicator 1 | thrombospondin-1thrombospondin-1p180thrombospondin-p50 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q15392 | P07996 | |
| Ensembl transtripts involved in fusion gene | ENST00000371269, ENST00000537443, ENST00000535035, | ENST00000260356, | |
| Fusion gene scores | * DoF score | 17 X 10 X 7=1190 | 7 X 7 X 2=98 |
| # samples | 24 | 9 | |
| ** MAII score | log2(24/1190*10)=-2.30985526258679 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/98*10)=-0.122856747785533 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DHCR24 [Title/Abstract] AND THBS1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | DHCR24 | GO:0043066 | negative regulation of apoptotic process | 15688385 |
| Hgene | DHCR24 | GO:0043154 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 11007892 |
| 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:0030823 | regulation of cGMP metabolic process | 16150726 |
| 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 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | HNSC | TCGA-CN-4742-01A | DHCR24 | chr1 | 55315306 | - | THBS1 | chr15 | 39873127 | + |
| TCGA | RV | HNSC | TCGA-CV-7255-01A | DHCR24 | chr1 | 55315306 | - | THBS1 | chr15 | 39873127 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * 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 |
| 5CDS-intron | ENST00000371269 | ENST00000260356 | DHCR24 | chr1 | 55315306 | - | THBS1 | chr15 | 39873127 | + |
| intron-intron | ENST00000537443 | ENST00000260356 | DHCR24 | chr1 | 55315306 | - | THBS1 | chr15 | 39873127 | + |
| intron-intron | ENST00000535035 | ENST00000260356 | DHCR24 | chr1 | 55315306 | - | THBS1 | chr15 | 39873127 | + |
Top |
FusionProtFeatures for DHCR24_THBS1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DHCR24 | THBS1 |
| Catalyzes the reduction of the Delta-24 double bond ofsterol intermediates. Protects cells from oxidative stress byreducing caspase 3 activity during apoptosis induced by oxidativestress. Also protects against amyloid-beta peptide-inducedapoptosis. {ECO:0000269|PubMed:11007892,ECO:0000269|PubMed:11519011, ECO:0000269|PubMed:22010141}. | Adhesive glycoprotein that mediates cell-to-cell andcell-to-matrix interactions. Binds heparin. May play a role indentinogenesis and/or maintenance of dentin and dental pulp (Bysimilarity). Ligand for CD36 mediating antiangiogenic properties.Plays a role in ER stress response, via its interaction with theactivating transcription factor 6 alpha (ATF6) which producesadaptive ER stress response factors (By similarity). {ECO:0000250,ECO:0000269|PubMed:11134179, ECO:0000269|PubMed:15014436}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * 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 |
FusionGeneSequence for DHCR24_THBS1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for DHCR24_THBS1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| DHCR24 | TP53, UBL4A, EGFR, IKBKB, ACTA2, ATP12A, FUNDC2, REEP5, ERAP1, HRAS, LUZP1, GBA, SNCA, CKAP5, NANOG, POU5F1, COQ9, NDUFA4, CISD3, ATP6V0D1, PTPN1, PTPN5 | THBS1 | LRP1, IGFBP5, PLG, COL3A1, COL2A1, COL1A1, COL4A1, COL5A1, CALCR, TFPI, ITGB3, F2, TGFB1, LRP2, PDGFB, SCARB2, ELANE, FGA, COL7A1, MMP2, MMP9, FGF2, ELAVL1, PSMD4, IQCB1, SOX2, ITGAV, ITGB1, THBS3, THBS2, FCGRT, DDX31, YAP1 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for DHCR24_THBS1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for DHCR24_THBS1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DHCR24 | C0002395 | Alzheimer's Disease | 1 | CTD_human |
| Hgene | DHCR24 | C0034362 | Q Fever | 1 | CTD_human |
| Hgene | DHCR24 | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |
| Hgene | DHCR24 | C1865596 | Desmosterolosis | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | THBS1 | C0011875 | Diabetic Angiopathies | 1 | CTD_human |
| Tgene | THBS1 | C0011884 | Diabetic Retinopathy | 1 | CTD_human |
| Tgene | THBS1 | C0016059 | Fibrosis | 1 | CTD_human |
| Tgene | THBS1 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| Tgene | THBS1 | C0027707 | Nephritis, Interstitial | 1 | CTD_human |
| Tgene | THBS1 | C0035126 | Reperfusion Injury | 1 | CTD_human |
| Tgene | THBS1 | C0036341 | Schizophrenia | 1 | CTD_human |
| Tgene | THBS1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | THBS1 | C3495559 | Juvenile arthritis | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|