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Fusion gene ID: 35460 |
FusionGeneSummary for SOX5_TGFBR2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SOX5_TGFBR2 | Fusion gene ID: 35460 | Hgene | Tgene | Gene symbol | SOX5 | TGFBR2 | Gene ID | 6660 | 7048 |
| Gene name | SRY-box 5 | transforming growth factor beta receptor 2 | |
| Synonyms | L-SOX5|L-SOX5B|L-SOX5F|LAMSHF | AAT3|FAA3|LDS1B|LDS2|LDS2B|MFS2|RIIC|TAAD2|TBR-ii|TBRII|TGFR-2|TGFbeta-RII | |
| Cytomap | 12p12.1 | 3p24.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor SOX-5SRY (sex determining region Y)-box 5 | TGF-beta receptor type-2TGF-beta receptor type IIBTGF-beta type II receptortbetaR-IItransforming growth factor beta receptor IItransforming growth factor beta receptor type IICtransforming growth factor, beta receptor II (70/80kDa)transforming grow | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | P35711 | P37173 | |
| Ensembl transtripts involved in fusion gene | ENST00000546136, ENST00000381381, ENST00000309359, ENST00000451604, ENST00000537393, ENST00000541536, ENST00000396007, ENST00000545921, ENST00000541847, ENST00000441133, ENST00000536850, | ENST00000295754, ENST00000359013, | |
| Fusion gene scores | * DoF score | 9 X 8 X 7=504 | 4 X 4 X 1=16 |
| # samples | 9 | 4 | |
| ** MAII score | log2(9/504*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SOX5 [Title/Abstract] AND TGFBR2 [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 | SOX5 | GO:0032332 | positive regulation of chondrocyte differentiation | 21401405 |
| Hgene | SOX5 | GO:0061036 | positive regulation of cartilage development | 21401405 |
| Hgene | SOX5 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 21401405 |
| Hgene | SOX5 | GO:2000741 | positive regulation of mesenchymal stem cell differentiation | 21401405 |
| Tgene | TGFBR2 | GO:0006468 | protein phosphorylation | 12015308 |
| Tgene | TGFBR2 | GO:0006915 | apoptotic process | 17471240 |
| Tgene | TGFBR2 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 18453574 |
| Tgene | TGFBR2 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 26459119 |
| Tgene | TGFBR2 | GO:0018105 | peptidyl-serine phosphorylation | 12015308 |
| Tgene | TGFBR2 | GO:0018107 | peptidyl-threonine phosphorylation | 12015308 |
| Tgene | TGFBR2 | GO:0042493 | response to drug | 17878231 |
| Tgene | TGFBR2 | GO:0060389 | pathway-restricted SMAD protein phosphorylation | 18453574 |
| Tgene | TGFBR2 | GO:0070723 | response to cholesterol | 17878231 |
| Tgene | TGFBR2 | GO:2000563 | positive regulation of CD4-positive, alpha-beta T cell proliferation | 17164348 |
| 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 |
| ChiTaRS3.1 | D50682 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| * 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 |
| intron-3CDS | ENST00000546136 | ENST00000295754 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000546136 | ENST00000359013 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000381381 | ENST00000295754 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000381381 | ENST00000359013 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000309359 | ENST00000295754 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000309359 | ENST00000359013 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000451604 | ENST00000295754 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000451604 | ENST00000359013 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000537393 | ENST00000295754 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000537393 | ENST00000359013 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000541536 | ENST00000295754 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000541536 | ENST00000359013 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000396007 | ENST00000295754 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000396007 | ENST00000359013 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000545921 | ENST00000295754 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000545921 | ENST00000359013 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000541847 | ENST00000295754 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000541847 | ENST00000359013 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000441133 | ENST00000295754 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000441133 | ENST00000359013 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000536850 | ENST00000295754 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
| intron-3CDS | ENST00000536850 | ENST00000359013 | SOX5 | chr12 | 24332887 | - | TGFBR2 | chr3 | 30691827 | + |
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FusionProtFeatures for SOX5_TGFBR2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SOX5 | TGFBR2 |
| Transmembrane serine/threonine kinase forming with theTGF-beta type I serine/threonine kinase receptor, TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 andTGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cellsurface to the cytoplasm and is thus regulating a plethora ofphysiological and pathological processes including cell cyclearrest in epithelial and hematopoietic cells, control ofmesenchymal cell proliferation and differentiation, wound healing,extracellular matrix production, immunosuppression andcarcinogenesis. The formation of the receptor complex composed of2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to thecytokine dimer results in the phosphorylation and the activationof TGFRB1 by the constitutively active TGFBR2. Activated TGFBR1phosphorylates SMAD2 which dissociates from the receptor andinteracts with SMAD4. The SMAD2-SMAD4 complex is subsequentlytranslocated to the nucleus where it modulates the transcriptionof the TGF-beta-regulated genes. This constitutes the canonicalSMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways.{ECO:0000269|PubMed:7774578}. |
| 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 |
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FusionGeneSequence for SOX5_TGFBR2 |
| 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). |
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FusionGenePPI for SOX5_TGFBR2 |
| 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 |
| - 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 |
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RelatedDrugs for SOX5_TGFBR2 |
| 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 |
| Tgene | TGFBR2 | P37173 | DB09462 | Glycerin | TGF-beta receptor type-2 | small molecule | approved|investigational |
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RelatedDiseases for SOX5_TGFBR2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SOX5 | C0004238 | Atrial Fibrillation | 1 | CTD_human |
| Hgene | SOX5 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | SOX5 | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |
| Tgene | TGFBR2 | C2674574 | Aortic aneurysm, familial thoracic 3 | 11 | CTD_human;ORPHANET;UNIPROT |
| Tgene | TGFBR2 | C2697932 | Loeys-Dietz Syndrome | 5 | CTD_human |
| Tgene | TGFBR2 | C0002949 | Aneurysm, Dissecting | 2 | CTD_human;HPO |
| Tgene | TGFBR2 | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human |
| Tgene | TGFBR2 | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
| Tgene | TGFBR2 | C0920269 | Microsatellite Instability | 2 | CTD_human |
| Tgene | TGFBR2 | C1860896 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 | 2 | UNIPROT |
| Tgene | TGFBR2 | C0003486 | Aortic Aneurysm | 1 | CTD_human;HPO |
| Tgene | TGFBR2 | C0005940 | Bone Diseases | 1 | CTD_human |
| Tgene | TGFBR2 | C0005967 | Bone neoplasms | 1 | CTD_human |
| Tgene | TGFBR2 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Tgene | TGFBR2 | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 1 | CTD_human |
| Tgene | TGFBR2 | C0011881 | Diabetic Nephropathy | 1 | CTD_human |
| Tgene | TGFBR2 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| Tgene | TGFBR2 | C0015393 | Eye Abnormalities | 1 | CTD_human |
| Tgene | TGFBR2 | C0015672 | Fatigue | 1 | CTD_human;HPO |
| Tgene | TGFBR2 | C0019294 | Hernia, Inguinal | 1 | CTD_human |
| Tgene | TGFBR2 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Tgene | TGFBR2 | C0024796 | Marfan Syndrome | 1 | CTD_human |
| Tgene | TGFBR2 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | TGFBR2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | TGFBR2 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | TGFBR2 | C0149931 | Migraine Disorders | 1 | CTD_human;HPO |
| Tgene | TGFBR2 | C0152018 | Esophageal carcinoma | 1 | HPO;UNIPROT |
| Tgene | TGFBR2 | C0162872 | Aortic Aneurysm, Thoracic | 1 | CTD_human |
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