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Fusion gene ID: 37971 |
FusionGeneSummary for THBS1_NRG1 |
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Fusion gene information | Fusion gene name: THBS1_NRG1 | Fusion gene ID: 37971 | Hgene | Tgene | Gene symbol | THBS1 | NRG1 | Gene ID | 7057 | 3084 |
Gene name | thrombospondin 1 | neuregulin 1 | |
Synonyms | THBS|THBS-1|TSP|TSP-1|TSP1 | ARIA|GGF|GGF2|HGL|HRG|HRG1|HRGA|MST131|MSTP131|NDF|NRG1-IT2|SMDF | |
Cytomap | 15q14 | 8p12 | |
Type of gene | protein-coding | protein-coding | |
Description | thrombospondin-1thrombospondin-1p180thrombospondin-p50 | pro-neuregulin-1, membrane-bound isoformacetylcholine receptor-inducing activityglial growth factor 2heregulin, alpha (45kD, ERBB2 p185-activator)neu differentiation factorpro-NRG1sensory and motor neuron derived factor | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P07996 | Q02297 | |
Ensembl transtripts involved in fusion gene | ENST00000260356, | ENST00000519301, ENST00000520407, ENST00000523079, ENST00000338921, ENST00000356819, ENST00000287845, ENST00000341377, ENST00000287842, ENST00000521670, ENST00000405005, ENST00000520502, ENST00000539990, ENST00000523681, | |
Fusion gene scores | * DoF score | 6 X 6 X 2=72 | 16 X 6 X 11=1056 |
# samples | 7 | 16 | |
** MAII score | log2(7/72*10)=-0.0406419844973459 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/1056*10)=-2.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: THBS1 [Title/Abstract] AND NRG1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. |
* 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 | THBS1 | GO:0001937 | negative regulation of endothelial cell proliferation | 16150726|17996481 |
Hgene | THBS1 | GO:0001953 | negative regulation of cell-matrix adhesion | 16150726|17416590 |
Hgene | THBS1 | GO:0002581 | negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | 16882710 |
Hgene | THBS1 | GO:0002605 | negative regulation of dendritic cell antigen processing and presentation | 16882710 |
Hgene | THBS1 | GO:0006954 | inflammatory response | 23144964 |
Hgene | THBS1 | GO:0007050 | cell cycle arrest | 17596205 |
Hgene | THBS1 | GO:0008284 | positive regulation of cell proliferation | 24615654 |
Hgene | THBS1 | GO:0009749 | response to glucose | 18096704 |
Hgene | THBS1 | GO:0010595 | positive regulation of endothelial cell migration | 18555217 |
Hgene | THBS1 | GO:0010596 | negative regulation of endothelial cell migration | 18555217 |
Hgene | THBS1 | GO:0010748 | negative regulation of plasma membrane long-chain fatty acid transport | 17416590 |
Hgene | THBS1 | GO:0010751 | negative regulation of nitric oxide mediated signal transduction | 16150726|17416590 |
Hgene | THBS1 | GO:0010754 | negative regulation of cGMP-mediated signaling | 17416590 |
Hgene | THBS1 | GO:0010757 | negative regulation of plasminogen activation | 6438154 |
Hgene | THBS1 | GO:0010763 | positive regulation of fibroblast migration | 18555217 |
Hgene | THBS1 | GO:0016477 | cell migration | 18555217 |
Hgene | THBS1 | GO:0016525 | negative regulation of angiogenesis | 16150726|17596205|17996481|18726995 |
Hgene | THBS1 | GO:0018149 | peptide cross-linking | 3997886 |
Hgene | THBS1 | GO:0030194 | positive regulation of blood coagulation | 3997886 |
Hgene | THBS1 | GO:0030335 | positive regulation of cell migration | 15700281 |
Hgene | THBS1 | GO:0030511 | positive regulation of transforming growth factor beta receptor signaling pathway | 18555217 |
Hgene | THBS1 | GO:0030823 | regulation of cGMP metabolic process | 16150726 |
Hgene | THBS1 | GO:0032026 | response to magnesium ion | 6777381 |
Hgene | THBS1 | GO:0032695 | negative regulation of interleukin-12 production | 16882710 |
Hgene | THBS1 | GO:0040037 | negative regulation of fibroblast growth factor receptor signaling pathway | 17996481 |
Hgene | THBS1 | GO:0042535 | positive regulation of tumor necrosis factor biosynthetic process | 18726995 |
Hgene | THBS1 | GO:0043032 | positive regulation of macrophage activation | 18757424 |
Hgene | THBS1 | GO:0043066 | negative regulation of apoptotic process | 18653767 |
Hgene | THBS1 | GO:0043154 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | 18653767 |
Hgene | THBS1 | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 18555217 |
Hgene | THBS1 | GO:0043537 | negative regulation of blood vessel endothelial cell migration | 18555217 |
Hgene | THBS1 | GO:0043652 | engulfment of apoptotic cell | 16882710 |
Hgene | THBS1 | GO:0045727 | positive regulation of translation | 15700281 |
Hgene | THBS1 | GO:0048661 | positive regulation of smooth muscle cell proliferation | 24615654 |
Hgene | THBS1 | GO:0050921 | positive regulation of chemotaxis | 18555217 |
Hgene | THBS1 | GO:0051592 | response to calcium ion | 6777381|18757424 |
Hgene | THBS1 | GO:0051897 | positive regulation of protein kinase B signaling | 18653767 |
Hgene | THBS1 | GO:0051918 | negative regulation of fibrinolysis | 6438154 |
Hgene | THBS1 | GO:1902043 | positive regulation of extrinsic apoptotic signaling pathway via death domain receptors | 18726995 |
Hgene | THBS1 | GO:2000353 | positive regulation of endothelial cell apoptotic process | 18726995 |
Hgene | THBS1 | GO:2000379 | positive regulation of reactive oxygen species metabolic process | 18757424 |
Hgene | THBS1 | GO:2001027 | negative regulation of endothelial cell chemotaxis | 16150726 |
Tgene | NRG1 | GO:0003222 | ventricular trabecula myocardium morphogenesis | 17336907 |
Tgene | NRG1 | GO:0038127 | ERBB signaling pathway | 11389077 |
Tgene | NRG1 | GO:0038129 | ERBB3 signaling pathway | 27353365 |
Tgene | NRG1 | GO:0043497 | regulation of protein heterodimerization activity | 10559227 |
Tgene | NRG1 | GO:0045892 | negative regulation of transcription, DNA-templated | 15073182 |
Tgene | NRG1 | GO:0051048 | negative regulation of secretion | 10559227 |
Tgene | NRG1 | GO:0060379 | cardiac muscle cell myoblast differentiation | 17336907 |
Tgene | NRG1 | GO:0060956 | endocardial cell differentiation | 17336907 |
![]() (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-5370-01A | THBS1 | chr15 | 39876623 | + | NRG1 | chr8 | 32585467 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
Frame-shift | ENST00000260356 | ENST00000519301 | THBS1 | chr15 | 39876623 | + | NRG1 | chr8 | 32585467 | + |
Frame-shift | ENST00000260356 | ENST00000520407 | THBS1 | chr15 | 39876623 | + | NRG1 | chr8 | 32585467 | + |
Frame-shift | ENST00000260356 | ENST00000523079 | THBS1 | chr15 | 39876623 | + | NRG1 | chr8 | 32585467 | + |
Frame-shift | ENST00000260356 | ENST00000338921 | THBS1 | chr15 | 39876623 | + | NRG1 | chr8 | 32585467 | + |
Frame-shift | ENST00000260356 | ENST00000356819 | THBS1 | chr15 | 39876623 | + | NRG1 | chr8 | 32585467 | + |
Frame-shift | ENST00000260356 | ENST00000287845 | THBS1 | chr15 | 39876623 | + | NRG1 | chr8 | 32585467 | + |
Frame-shift | ENST00000260356 | ENST00000341377 | THBS1 | chr15 | 39876623 | + | NRG1 | chr8 | 32585467 | + |
Frame-shift | ENST00000260356 | ENST00000287842 | THBS1 | chr15 | 39876623 | + | NRG1 | chr8 | 32585467 | + |
Frame-shift | ENST00000260356 | ENST00000521670 | THBS1 | chr15 | 39876623 | + | NRG1 | chr8 | 32585467 | + |
Frame-shift | ENST00000260356 | ENST00000405005 | THBS1 | chr15 | 39876623 | + | NRG1 | chr8 | 32585467 | + |
Frame-shift | ENST00000260356 | ENST00000520502 | THBS1 | chr15 | 39876623 | + | NRG1 | chr8 | 32585467 | + |
Frame-shift | ENST00000260356 | ENST00000539990 | THBS1 | chr15 | 39876623 | + | NRG1 | chr8 | 32585467 | + |
5CDS-intron | ENST00000260356 | ENST00000523681 | THBS1 | chr15 | 39876623 | + | NRG1 | chr8 | 32585467 | + |
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FusionProtFeatures for THBS1_NRG1 |
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Hgene | Tgene |
THBS1 | NRG1 |
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}. |
![]() * 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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FusionGeneSequence for THBS1_NRG1 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for THBS1_NRG1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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 | NRG1 | LIMK1, ERBB3, ERBB2, EGFR, ERBB4, MBOAT7, LSR, PGAP1, KIAA2013, SREBF2, LEMD3, TMTC3, TMTC4, POMGNT2, SLC38A10, ATP7B, SLC35B2, NDUFA3, ZDHHC17, TMEM39B, DNAAF5, B3GNT2, RHOBTB3, CISD2, POMT1, SPTLC2, SLC25A16, RDH11, MGAT1, HMOX1, KIAA1467, EXTL3, SLC25A23, NETO2, LPHN1, CNTNAP3, HLA-DPB1, UQCRQ, GLMN, DEGS1, TMEM63B, DDX11L8, ABCB10, GYLTL1B, B3GALNT2, TMEM181, INTS7, MYO19, GALNT11, C1GALT1C1, SLC22A18, NEK4, ABCA3, TMEM164, MTCH1, OPA3, HS6ST1, SFXN3, TM2D3, DSE, TMEM205, RNF130, PIGU, CDC5L, LGR4, TUBB3 |
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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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RelatedDrugs for THBS1_NRG1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for THBS1_NRG1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | THBS1 | C0011875 | Diabetic Angiopathies | 1 | CTD_human |
Hgene | THBS1 | C0011884 | Diabetic Retinopathy | 1 | CTD_human |
Hgene | THBS1 | C0016059 | Fibrosis | 1 | CTD_human |
Hgene | THBS1 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
Hgene | THBS1 | C0027707 | Nephritis, Interstitial | 1 | CTD_human |
Hgene | THBS1 | C0035126 | Reperfusion Injury | 1 | CTD_human |
Hgene | THBS1 | C0036341 | Schizophrenia | 1 | CTD_human |
Hgene | THBS1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Hgene | THBS1 | C3495559 | Juvenile arthritis | 1 | CTD_human |
Tgene | NRG1 | C0036341 | Schizophrenia | 7 | CTD_human |
Tgene | NRG1 | C0005586 | Bipolar Disorder | 5 | PSYGENET |
Tgene | NRG1 | C0024809 | Marijuana Abuse | 3 | PSYGENET |
Tgene | NRG1 | C0011570 | Mental Depression | 2 | PSYGENET |
Tgene | NRG1 | C0011581 | Depressive disorder | 2 | PSYGENET |
Tgene | NRG1 | C0006870 | Cannabis Dependence | 1 | PSYGENET |
Tgene | NRG1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
Tgene | NRG1 | C0011616 | Contact Dermatitis | 1 | CTD_human |
Tgene | NRG1 | C0018801 | Heart failure | 1 | CTD_human |
Tgene | NRG1 | C0019569 | Hirschsprung Disease | 1 | CTD_human |
Tgene | NRG1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | NRG1 | C0026650 | Movement Disorders | 1 | CTD_human |
Tgene | NRG1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
Tgene | NRG1 | C0030193 | Pain | 1 | CTD_human |
Tgene | NRG1 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
Tgene | NRG1 | C0033937 | Psychoses, Drug | 1 | PSYGENET |
Tgene | NRG1 | C0038358 | Gastric ulcer | 1 | CTD_human |
Tgene | NRG1 | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
Tgene | NRG1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Tgene | NRG1 | C3495559 | Juvenile arthritis | 1 | CTD_human |