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Fusion Protein:TGFB1-TBC1D16 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: TGFB1-TBC1D16 | FusionPDB ID: 90431 | FusionGDB2.0 ID: 90431 | Hgene | Tgene | Gene symbol | TGFB1 | TBC1D16 | Gene ID | 7040 | 125058 |
Gene name | transforming growth factor beta 1 | TBC1 domain family member 16 | |
Synonyms | CED|DPD1|IBDIMDE|LAP|TGF-beta1|TGFB|TGFbeta | - | |
Cytomap | 19q13.2 | 17q25.3 | |
Type of gene | protein-coding | protein-coding | |
Description | transforming growth factor beta-1 proproteinTGF-beta-1latency-associated peptideprepro-transforming growth factor beta-1transforming growth factor beta1 | TBC1 domain family member 16CTD-2529O21.1 | |
Modification date | 20200329 | 20200313 | |
UniProtAcc | TIAF1 | . | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000221930, | ENST00000340848, ENST00000570373, ENST00000572862, ENST00000576768, ENST00000310924, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 7 X 7 X 6=294 | 7 X 6 X 4=168 |
# samples | 9 | 7 | |
** MAII score | log2(9/294*10)=-1.70781924850669 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: TGFB1 [Title/Abstract] AND TBC1D16 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | TGFB1(41847787)-TBC1D16(77926617), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | TGFB1-TBC1D16 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. TGFB1-TBC1D16 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. TGFB1-TBC1D16 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. TGFB1-TBC1D16 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* 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 | TGFB1 | GO:0001837 | epithelial to mesenchymal transition | 25893292|29529050 |
Hgene | TGFB1 | GO:0001933 | negative regulation of protein phosphorylation | 8053900 |
Hgene | TGFB1 | GO:0001934 | positive regulation of protein phosphorylation | 18625725 |
Hgene | TGFB1 | GO:0002062 | chondrocyte differentiation | 15040835 |
Hgene | TGFB1 | GO:0002244 | hematopoietic progenitor cell differentiation | 15451575 |
Hgene | TGFB1 | GO:0006611 | protein export from nucleus | 9770491|17438144|18588859 |
Hgene | TGFB1 | GO:0006754 | ATP biosynthetic process | 10513816 |
Hgene | TGFB1 | GO:0006796 | phosphate-containing compound metabolic process | 10513816 |
Hgene | TGFB1 | GO:0006954 | inflammatory response | 21147091 |
Hgene | TGFB1 | GO:0007050 | cell cycle arrest | 14555988 |
Hgene | TGFB1 | GO:0007093 | mitotic cell cycle checkpoint | 15334054 |
Hgene | TGFB1 | GO:0007173 | epidermal growth factor receptor signaling pathway | 18625725 |
Hgene | TGFB1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 9389648|11157754 |
Hgene | TGFB1 | GO:0007182 | common-partner SMAD protein phosphorylation | 20573232 |
Hgene | TGFB1 | GO:0007183 | SMAD protein complex assembly | 17438144 |
Hgene | TGFB1 | GO:0008284 | positive regulation of cell proliferation | 10513816|14633705 |
Hgene | TGFB1 | GO:0008285 | negative regulation of cell proliferation | 15334054 |
Hgene | TGFB1 | GO:0010628 | positive regulation of gene expression | 18625725|18832382|18941241|19913496|25322725|26634652|26687115|27162619|29167509 |
Hgene | TGFB1 | GO:0010629 | negative regulation of gene expression | 19913496|20067797|22269326|25163461|26634652|29167509|29529050 |
Hgene | TGFB1 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 17999987|18505915 |
Hgene | TGFB1 | GO:0010763 | positive regulation of fibroblast migration | 18555217 |
Hgene | TGFB1 | GO:0010800 | positive regulation of peptidyl-threonine phosphorylation | 18625725|19736306 |
Hgene | TGFB1 | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 9389648|19736306|26634652 |
Hgene | TGFB1 | GO:0010936 | negative regulation of macrophage cytokine production | 20875417 |
Hgene | TGFB1 | GO:0016477 | cell migration | 25893292 |
Hgene | TGFB1 | GO:0017015 | regulation of transforming growth factor beta receptor signaling pathway | 15334054 |
Hgene | TGFB1 | GO:0022408 | negative regulation of cell-cell adhesion | 18593713 |
Hgene | TGFB1 | GO:0030214 | hyaluronan catabolic process | 17324121 |
Hgene | TGFB1 | GO:0030308 | negative regulation of cell growth | 15334054 |
Hgene | TGFB1 | GO:0030335 | positive regulation of cell migration | 19736306 |
Hgene | TGFB1 | GO:0031293 | membrane protein intracellular domain proteolysis | 25310401 |
Hgene | TGFB1 | GO:0031334 | positive regulation of protein complex assembly | 19366691 |
Hgene | TGFB1 | GO:0031663 | lipopolysaccharide-mediated signaling pathway | 21147091 |
Hgene | TGFB1 | GO:0032270 | positive regulation of cellular protein metabolic process | 15219857 |
Hgene | TGFB1 | GO:0032355 | response to estradiol | 18039789 |
Hgene | TGFB1 | GO:0032570 | response to progesterone | 18039789 |
Hgene | TGFB1 | GO:0032740 | positive regulation of interleukin-17 production | 18453574 |
Hgene | TGFB1 | GO:0032801 | receptor catabolic process | 17878231 |
Hgene | TGFB1 | GO:0032930 | positive regulation of superoxide anion generation | 22073128 |
Hgene | TGFB1 | GO:0032967 | positive regulation of collagen biosynthetic process | 19734317|22269326|25310401 |
Hgene | TGFB1 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 18625725|19736306 |
Hgene | TGFB1 | GO:0035307 | positive regulation of protein dephosphorylation | 14555988 |
Hgene | TGFB1 | GO:0042307 | positive regulation of protein import into nucleus | 19366691 |
Hgene | TGFB1 | GO:0043117 | positive regulation of vascular permeability | 21168935 |
Hgene | TGFB1 | GO:0043406 | positive regulation of MAP kinase activity | 18625725 |
Hgene | TGFB1 | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 18555217 |
Hgene | TGFB1 | GO:0043537 | negative regulation of blood vessel endothelial cell migration | 18555217 |
Hgene | TGFB1 | GO:0043552 | positive regulation of phosphatidylinositol 3-kinase activity | 18625725 |
Hgene | TGFB1 | GO:0045216 | cell-cell junction organization | 18505915 |
Hgene | TGFB1 | GO:0045599 | negative regulation of fat cell differentiation | 15040835 |
Hgene | TGFB1 | GO:0045662 | negative regulation of myoblast differentiation | 9770491 |
Hgene | TGFB1 | GO:0045786 | negative regulation of cell cycle | 11502704 |
Hgene | TGFB1 | GO:0045892 | negative regulation of transcription, DNA-templated | 15702480|18832382 |
Hgene | TGFB1 | GO:0045893 | positive regulation of transcription, DNA-templated | 9389648|14517293|15334054|16816361 |
Hgene | TGFB1 | GO:0045918 | negative regulation of cytolysis | 24586048 |
Hgene | TGFB1 | GO:0045930 | negative regulation of mitotic cell cycle | 14555988 |
Hgene | TGFB1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 18832382 |
Hgene | TGFB1 | GO:0048298 | positive regulation of isotype switching to IgA isotypes | 14988498 |
Hgene | TGFB1 | GO:0048642 | negative regulation of skeletal muscle tissue development | 9770491 |
Hgene | TGFB1 | GO:0050680 | negative regulation of epithelial cell proliferation | 9950587 |
Hgene | TGFB1 | GO:0050714 | positive regulation of protein secretion | 18505915 |
Hgene | TGFB1 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 21168935 |
Hgene | TGFB1 | GO:0050921 | positive regulation of chemotaxis | 18555217 |
Hgene | TGFB1 | GO:0051897 | positive regulation of protein kinase B signaling | 18625725 |
Hgene | TGFB1 | GO:0060389 | pathway-restricted SMAD protein phosphorylation | 11157754|17999987|18453574|25893292 |
Hgene | TGFB1 | GO:0060390 | regulation of SMAD protein signal transduction | 25893292 |
Hgene | TGFB1 | GO:0060391 | positive regulation of SMAD protein signal transduction | 9389648|19366691|29167509 |
Hgene | TGFB1 | GO:0070168 | negative regulation of biomineral tissue development | 26634652 |
Hgene | TGFB1 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 25310401 |
Hgene | TGFB1 | GO:0070723 | response to cholesterol | 17878231 |
Hgene | TGFB1 | GO:0071407 | cellular response to organic cyclic compound | 21147091 |
Hgene | TGFB1 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 19736306|22269326 |
Hgene | TGFB1 | GO:0085029 | extracellular matrix assembly | 19734317 |
Hgene | TGFB1 | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 12893825|15040835 |
Hgene | TGFB1 | GO:0097191 | extrinsic apoptotic signaling pathway | 15334054 |
Hgene | TGFB1 | GO:1900126 | negative regulation of hyaluronan biosynthetic process | 17324121 |
Hgene | TGFB1 | GO:1900182 | positive regulation of protein localization to nucleus | 26634652 |
Hgene | TGFB1 | GO:1901666 | positive regulation of NAD+ ADP-ribosyltransferase activity | 22073128 |
Hgene | TGFB1 | GO:1902895 | positive regulation of pri-miRNA transcription by RNA polymerase II | 26311719|26493107 |
Hgene | TGFB1 | GO:1903077 | negative regulation of protein localization to plasma membrane | 21168935|24586048 |
Hgene | TGFB1 | GO:1903800 | positive regulation of production of miRNAs involved in gene silencing by miRNA | 18548003 |
Hgene | TGFB1 | GO:2000679 | positive regulation of transcription regulatory region DNA binding | 22073128 |
Hgene | TGFB1 | GO:2000727 | positive regulation of cardiac muscle cell differentiation | 25163461 |
Tgene | TBC1D16 | GO:0001919 | regulation of receptor recycling | 23019362 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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 |
ChimerDB4 | STAD | TCGA-BR-8485 | TGFB1 | chr19 | 41847787 | - | TBC1D16 | chr17 | 77926617 | - |
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Fusion ORF Analysis |
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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) |
ENST00000221930 | TGFB1 | chr19 | 41847787 | - | ENST00000310924 | TBC1D16 | chr17 | 77926617 | - | 11768 | 1727 | 171 | 3251 | 1026 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000221930 | ENST00000310924 | TGFB1 | chr19 | 41847787 | - | TBC1D16 | chr17 | 77926617 | - | 0.003232018 | 0.996768 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >90431_90431_1_TGFB1-TBC1D16_TGFB1_chr19_41847787_ENST00000221930_TBC1D16_chr17_77926617_ENST00000310924_length(amino acids)=1026AA_BP=184 MRPQSLRRAAAAPATAGRRGRRSGRRDELVGRRGKKLLRLFRCRWEPEARGPLGATLPREEAGLGDPRPPPFAAGDACSLPAPYTASLRR PHSGPALGSRRPGLPQRLFPRPRAHPLHAAFIPGLSPEPPRILDPFSSRRRISLRPATDPLFKTTHLLVPDRAHLGYFRGILRHPRSKPP LHHCALLPEDLSFPSRPSYLLPGDPQPLQGRGLPTTPALFALSAVPGGAASPMPPSGLRLLPLLLPLLWLLVLTPGRPAAGLSTCKTIDM ELVKRKRIEAIRGQILSKLRLASPPSQGEVPPGPLPEAVLALYNSTRDRVAGESAEPEPEPEADYYAKEVTRVLMVETHNEIYDKFKQST HSIYMFFNTSELREAVPEPVLLSRAELRLLRLKLKVEQHVELYQKYSNNSWRYLSNRLLAPSDSPEWLSFDVTGVVRQWLSRGGEIEGFR LSAHCSCDSRDNTLQVDINGFTTGRRGDLATIHGMNRPFLLLMATPLERAQHLQSSRHRRALDTNYCFSPPSSSDAGLRFPDSNGLLQTP RWDEPQRVCALEQICGVFRVDLGHMRSLRLFFSDEACTSGQLVVASRESQYKVFHFHHGGLDKLSDVFQQWKYCTEMQLKDQQVAPDKTC MQFSIRRPKLPSSETHPEESMYKRLGVSAWLNHLNELGQVEEEYKLRKAIFFGGIDVSIRGEVWPFLLRYYSHESTSEEREALRLQKRKE YSEIQQKRLSMTPEEHRAFWRNVQFTVDKDVVRTDRNNQFFRGEDNPNVESMRRILLNYAVYNPAVGYSQGMSDLVAPILAEVLDESDTF WCFVGLMQNTIFVSSPRDEDMEKQLLYLRELLRLTHVRFYQHLVSLGEDGLQMLFCHRWLLLCFKREFPEAEALRIWEACWAHYQTDYFH LFICVAIVAIYGDDVIEQQLATDQMLLHFGNLAMHMNGELVLRKARSLLYQFRLLPRIPCSLHDLCKLCGSGMWDSGSMPAVECTGHHPG -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:41847787/chr17:77926617) - 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 |
TGFB1 | . |
115 | FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. |
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- 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 |
Hgene | TGFB1 | chr19:41847787 | chr17:77926617 | ENST00000221930 | - | 5 | 7 | 244_246 | 286.6666666666667 | 391.0 | Motif | Cell attachment site |
Hgene | TGFB1 | chr19:41847787 | chr17:77926617 | ENST00000221930 | - | 5 | 7 | 226_252 | 286.6666666666667 | 391.0 | Region | Bowtie tail |
Hgene | TGFB1 | chr19:41847787 | chr17:77926617 | ENST00000221930 | - | 5 | 7 | 30_74 | 286.6666666666667 | 391.0 | Region | Straightjacket domain |
Hgene | TGFB1 | chr19:41847787 | chr17:77926617 | ENST00000221930 | - | 5 | 7 | 75_271 | 286.6666666666667 | 391.0 | Region | Arm domain |
Tgene | TBC1D16 | chr19:41847787 | chr17:77926617 | ENST00000310924 | 2 | 12 | 425_635 | 259.6666666666667 | 768.0 | Domain | Rab-GAP TBC |
- 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 |
Tgene | TBC1D16 | chr19:41847787 | chr17:77926617 | ENST00000310924 | 2 | 12 | 212_265 | 259.6666666666667 | 768.0 | Compositional bias | Note=Ser-rich |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
TGFB1 | |
TBC1D16 |
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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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Related Drugs to TGFB1-TBC1D16 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to TGFB1-TBC1D16 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |