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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 |