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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for TGFB1 |
 Gene summary |
| Gene information | Gene symbol | TGFB1 | Gene ID | 7040 |
| Gene name | transforming growth factor beta 1 | |
| Synonyms | CED|DPD1|LAP|TGFB|TGFbeta | |
| Cytomap | 19q13.2 | |
| Type of gene | protein-coding | |
| Description | transforming growth factor beta-1TGF-beta-1latency-associated peptideprepro-transforming growth factor beta-1 | |
| Modification date | 20180527 | |
| UniProtAcc | P01137 | |
| Context | PubMed: TGFB1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| TGFB1 | GO:0000060 | protein import into nucleus, translocation | 21390327 |
| TGFB1 | GO:0001837 | epithelial to mesenchymal transition | 25893292 |
| TGFB1 | GO:0001933 | negative regulation of protein phosphorylation | 8053900 |
| TGFB1 | GO:0001934 | positive regulation of protein phosphorylation | 18625725 |
| TGFB1 | GO:0002062 | chondrocyte differentiation | 15040835 |
| TGFB1 | GO:0002244 | hematopoietic progenitor cell differentiation | 15451575 |
| TGFB1 | GO:0006611 | protein export from nucleus | 9770491|17438144|18588859 |
| TGFB1 | GO:0006754 | ATP biosynthetic process | 10513816 |
| TGFB1 | GO:0006796 | phosphate-containing compound metabolic process | 10513816 |
| TGFB1 | GO:0006954 | inflammatory response | 21147091 |
| TGFB1 | GO:0007050 | cell cycle arrest | 14555988 |
| TGFB1 | GO:0007093 | mitotic cell cycle checkpoint | 15334054 |
| TGFB1 | GO:0007173 | epidermal growth factor receptor signaling pathway | 18625725 |
| TGFB1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 9389648|11157754 |
| TGFB1 | GO:0007182 | common-partner SMAD protein phosphorylation | 20573232 |
| TGFB1 | GO:0007183 | SMAD protein complex assembly | 17438144 |
| TGFB1 | GO:0008284 | positive regulation of cell proliferation | 10513816|14633705 |
| TGFB1 | GO:0008285 | negative regulation of cell proliferation | 15334054 |
| TGFB1 | GO:0010628 | positive regulation of gene expression | 18625725|18832382|19913496|25322725|26687115|27162619 |
| TGFB1 | GO:0010629 | negative regulation of gene expression | 19913496|20067797|22269326|25163461 |
| TGFB1 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 17999987|18505915 |
| TGFB1 | GO:0010763 | positive regulation of fibroblast migration | 18555217 |
| TGFB1 | GO:0010800 | positive regulation of peptidyl-threonine phosphorylation | 18625725|19736306 |
| TGFB1 | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 9389648|19736306 |
| TGFB1 | GO:0010936 | negative regulation of macrophage cytokine production | 20875417 |
| TGFB1 | GO:0016477 | cell migration | 25893292 |
| TGFB1 | GO:0017015 | regulation of transforming growth factor beta receptor signaling pathway | 15334054 |
| TGFB1 | GO:0019049 | evasion or tolerance of host defenses by virus | 15334054 |
| TGFB1 | GO:0022408 | negative regulation of cell-cell adhesion | 18593713 |
| TGFB1 | GO:0030214 | hyaluronan catabolic process | 17324121 |
| TGFB1 | GO:0030308 | negative regulation of cell growth | 15334054 |
| TGFB1 | GO:0030335 | positive regulation of cell migration | 19736306 |
| TGFB1 | GO:0031293 | membrane protein intracellular domain proteolysis | 25310401 |
| TGFB1 | GO:0031334 | positive regulation of protein complex assembly | 19366691 |
| TGFB1 | GO:0031663 | lipopolysaccharide-mediated signaling pathway | 21147091 |
| TGFB1 | GO:0032270 | positive regulation of cellular protein metabolic process | 15219857 |
| TGFB1 | GO:0032355 | response to estradiol | 18039789 |
| TGFB1 | GO:0032570 | response to progesterone | 18039789 |
| TGFB1 | GO:0032740 | positive regulation of interleukin-17 production | 18453574 |
| TGFB1 | GO:0032801 | receptor catabolic process | 17878231 |
| TGFB1 | GO:0032930 | positive regulation of superoxide anion generation | 22073128 |
| TGFB1 | GO:0032967 | positive regulation of collagen biosynthetic process | 19734317|22269326|25310401 |
| TGFB1 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 18625725|19736306 |
| TGFB1 | GO:0035307 | positive regulation of protein dephosphorylation | 14555988 |
| TGFB1 | GO:0042307 | positive regulation of protein import into nucleus | 19366691 |
| TGFB1 | GO:0043117 | positive regulation of vascular permeability | 21168935 |
| TGFB1 | GO:0043406 | positive regulation of MAP kinase activity | 18625725 |
| TGFB1 | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 18555217 |
| TGFB1 | GO:0043537 | negative regulation of blood vessel endothelial cell migration | 18555217 |
| TGFB1 | GO:0043552 | positive regulation of phosphatidylinositol 3-kinase activity | 18625725 |
| TGFB1 | GO:0045216 | cell-cell junction organization | 18505915 |
| TGFB1 | GO:0045599 | negative regulation of fat cell differentiation | 15040835 |
| TGFB1 | GO:0045662 | negative regulation of myoblast differentiation | 9770491 |
| TGFB1 | GO:0045786 | negative regulation of cell cycle | 11502704 |
| TGFB1 | GO:0045892 | negative regulation of transcription, DNA-templated | 15702480|18832382 |
| TGFB1 | GO:0045893 | positive regulation of transcription, DNA-templated | 9389648|14517293|15334054|16816361 |
| TGFB1 | GO:0045930 | negative regulation of mitotic cell cycle | 14555988 |
| TGFB1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 18832382 |
| TGFB1 | GO:0048298 | positive regulation of isotype switching to IgA isotypes | 14988498 |
| TGFB1 | GO:0048642 | negative regulation of skeletal muscle tissue development | 9770491 |
| TGFB1 | GO:0050680 | negative regulation of epithelial cell proliferation | 9950587 |
| TGFB1 | GO:0050714 | positive regulation of protein secretion | 18505915 |
| TGFB1 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 21168935 |
| TGFB1 | GO:0050921 | positive regulation of chemotaxis | 18555217 |
| TGFB1 | GO:0051897 | positive regulation of protein kinase B signaling | 18625725 |
| TGFB1 | GO:0060389 | pathway-restricted SMAD protein phosphorylation | 11157754|17999987|18453574|25893292 |
| TGFB1 | GO:0060390 | regulation of SMAD protein signal transduction | 25893292 |
| TGFB1 | GO:0060391 | positive regulation of SMAD protein signal transduction | 9389648|19366691 |
| TGFB1 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 25310401 |
| TGFB1 | GO:0070723 | response to cholesterol | 17878231 |
| TGFB1 | GO:0071407 | cellular response to organic cyclic compound | 21147091 |
| TGFB1 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 19736306|22269326 |
| TGFB1 | GO:0085029 | extracellular matrix assembly | 19734317 |
| TGFB1 | GO:0097191 | extrinsic apoptotic signaling pathway | 15334054 |
| TGFB1 | GO:1900126 | negative regulation of hyaluronan biosynthetic process | 17324121 |
| TGFB1 | GO:1901666 | positive regulation of NAD+ ADP-ribosyltransferase activity | 22073128 |
| TGFB1 | GO:1902895 | positive regulation of pri-miRNA transcription by RNA polymerase II | 26311719|26493107 |
| TGFB1 | GO:1903077 | negative regulation of protein localization to plasma membrane | 21168935 |
| TGFB1 | GO:1903800 | positive regulation of production of miRNAs involved in gene silencing by miRNA | 18548003 |
| TGFB1 | GO:2000679 | positive regulation of transcription regulatory region DNA binding | 22073128 |
| TGFB1 | GO:2000727 | positive regulation of cardiac muscle cell differentiation | 25163461 |
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Exon skipping events across known transcript of Ensembl for TGFB1 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for TGFB1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for TGFB1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_318888 | 19 | 41838032:41838186:41847787:41847935:41848074:41848152 | 41847787:41847935 | ENSG00000105329.5 | ENST00000221930.5 |
| exon_skip_318892 | 19 | 41838032:41838186:41848074:41848152:41850651:41850745 | 41848074:41848152 | ENSG00000105329.5 | ENST00000600196.1 |
| exon_skip_318894 | 19 | 41847787:41847935:41848074:41848152:41850651:41850745 | 41848074:41848152 | ENSG00000105329.5 | ENST00000221930.5 |
| exon_skip_318898 | 19 | 41848074:41848152:41850651:41850769:41854199:41854246 | 41850651:41850769 | ENSG00000105329.5 | ENST00000221930.5,ENST00000597453.1 |
| exon_skip_318905 | 19 | 41850651:41850769:41854199:41854360:41858594:41859816 | 41854199:41854360 | ENSG00000105329.5 | ENST00000221930.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TGFB1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_318888 | 19 | 41838032:41838186:41847787:41847935:41848074:41848152 | 41847787:41847935 | ENSG00000105329.5 | ENST00000221930.5 |
| exon_skip_318892 | 19 | 41838032:41838186:41848074:41848152:41850651:41850745 | 41848074:41848152 | ENSG00000105329.5 | ENST00000600196.1 |
| exon_skip_318894 | 19 | 41847787:41847935:41848074:41848152:41850651:41850745 | 41848074:41848152 | ENSG00000105329.5 | ENST00000221930.5 |
| exon_skip_318898 | 19 | 41848074:41848152:41850651:41850769:41854199:41854246 | 41850651:41850769 | ENSG00000105329.5 | ENST00000221930.5,ENST00000597453.1 |
| exon_skip_318905 | 19 | 41850651:41850769:41854199:41854360:41858594:41859816 | 41854199:41854360 | ENSG00000105329.5 | ENST00000221930.5 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for TGFB1 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000221930 | 41847787 | 41847935 | Frame-shift |
| ENST00000221930 | 41850651 | 41850769 | Frame-shift |
| ENST00000221930 | 41854199 | 41854360 | Frame-shift |
| ENST00000221930 | 41848074 | 41848152 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000221930 | 41847787 | 41847935 | Frame-shift |
| ENST00000221930 | 41850651 | 41850769 | Frame-shift |
| ENST00000221930 | 41854199 | 41854360 | Frame-shift |
| ENST00000221930 | 41848074 | 41848152 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TGFB1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000221930 | 2786 | 390 | 41848074 | 41848152 | 1502 | 1579 | 211 | 237 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000221930 | 2786 | 390 | 41848074 | 41848152 | 1502 | 1579 | 211 | 237 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P01137 | 211 | 237 | 213 | 228 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VQP |
| P01137 | 211 | 237 | 231 | 238 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VQP |
| P01137 | 211 | 237 | 30 | 278 | Chain | ID=PRO_0000033762;Note=Latency-associated peptide;Ontology_term=ECO:0000305,ECO:0000305,ECO:0000305,ECO:0000305;evidence=ECO:0000305|PubMed:2982829,ECO:0000305|PubMed:3162913,ECO:0000305|PubMed:7737999,ECO:0000305|PubMed:8471846;Dbxref=PMID:2982829,PMID:3 |
| P01137 | 211 | 237 | 223 | 223 | Disulfide bond | Note=Interchain (with C-225);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:5FFO,ECO:0000244|PDB:5VQP,ECO:0000269|PubMed:28117447,ECO:0000269|PubMed:29109152;Dbxref=PMID:28117447,PMID:29109152 |
| P01137 | 211 | 237 | 225 | 225 | Disulfide bond | Note=Interchain (with C-223);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:5FFO,ECO:0000244|PDB:5VQP,ECO:0000269|PubMed:28117447,ECO:0000269|PubMed:29109152;Dbxref=PMID:28117447,PMID:29109152 |
| P01137 | 211 | 237 | 232 | 236 | Mutagenesis | Note=Strongly inhibits integrin-binding and activation of TGF-beta-1. LQVDI->GQGDG;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28117447;Dbxref=PMID:28117447 |
| P01137 | 211 | 237 | 234 | 236 | Mutagenesis | Note=Strongly inhibits integrin-binding and activation of TGF-beta-1. VDI->GDG;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28117447;Dbxref=PMID:28117447 |
| P01137 | 211 | 237 | 237 | 237 | Mutagenesis | Note=Does not affect integrin-binding or activation of TGF-beta-1. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28117447;Dbxref=PMID:28117447 |
| P01137 | 211 | 237 | 218 | 218 | Natural variant | ID=VAR_017608;Note=In CAEND%3B higher levels of active TGF-beta-1 in the culture medium%3B enhances osteoclast formation in vitro. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10973241,ECO:0000269|PubMed:1 |
| P01137 | 211 | 237 | 218 | 218 | Natural variant | ID=VAR_017609;Note=In CAEND. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10973241;Dbxref=PMID:10973241 |
| P01137 | 211 | 237 | 222 | 222 | Natural variant | ID=VAR_017610;Note=In CAEND%3B sporadic case%3B higher levels of active TGF-beta-1 in the culture medium. H->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12493741;Dbxref=PMID:12493741 |
| P01137 | 211 | 237 | 223 | 223 | Natural variant | ID=VAR_067303;Note=In CAEND. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15103729;Dbxref=PMID:15103729 |
| P01137 | 211 | 237 | 223 | 223 | Natural variant | ID=VAR_067304;Note=In CAEND. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15103729;Dbxref=PMID:15103729 |
| P01137 | 211 | 237 | 225 | 225 | Natural variant | ID=VAR_017611;Note=In CAEND%3B higher levels of active TGF-beta-1 in the culture medium. C->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10973241,ECO:0000269|PubMed:11062463,ECO:0000269|PubMed:12493741;Dbxref=PMID:109732 |
| P01137 | 211 | 237 | 75 | 271 | Region | Note=Arm domain;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07200 |
| P01137 | 211 | 237 | 226 | 252 | Region | Note=Bowtie tail;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28117447;Dbxref=PMID:28117447 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P01137 | 211 | 237 | 213 | 228 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VQP |
| P01137 | 211 | 237 | 231 | 238 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5VQP |
| P01137 | 211 | 237 | 30 | 278 | Chain | ID=PRO_0000033762;Note=Latency-associated peptide;Ontology_term=ECO:0000305,ECO:0000305,ECO:0000305,ECO:0000305;evidence=ECO:0000305|PubMed:2982829,ECO:0000305|PubMed:3162913,ECO:0000305|PubMed:7737999,ECO:0000305|PubMed:8471846;Dbxref=PMID:2982829,PMID:3 |
| P01137 | 211 | 237 | 223 | 223 | Disulfide bond | Note=Interchain (with C-225);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:5FFO,ECO:0000244|PDB:5VQP,ECO:0000269|PubMed:28117447,ECO:0000269|PubMed:29109152;Dbxref=PMID:28117447,PMID:29109152 |
| P01137 | 211 | 237 | 225 | 225 | Disulfide bond | Note=Interchain (with C-223);Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244|PDB:5FFO,ECO:0000244|PDB:5VQP,ECO:0000269|PubMed:28117447,ECO:0000269|PubMed:29109152;Dbxref=PMID:28117447,PMID:29109152 |
| P01137 | 211 | 237 | 232 | 236 | Mutagenesis | Note=Strongly inhibits integrin-binding and activation of TGF-beta-1. LQVDI->GQGDG;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28117447;Dbxref=PMID:28117447 |
| P01137 | 211 | 237 | 234 | 236 | Mutagenesis | Note=Strongly inhibits integrin-binding and activation of TGF-beta-1. VDI->GDG;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28117447;Dbxref=PMID:28117447 |
| P01137 | 211 | 237 | 237 | 237 | Mutagenesis | Note=Does not affect integrin-binding or activation of TGF-beta-1. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28117447;Dbxref=PMID:28117447 |
| P01137 | 211 | 237 | 218 | 218 | Natural variant | ID=VAR_017608;Note=In CAEND%3B higher levels of active TGF-beta-1 in the culture medium%3B enhances osteoclast formation in vitro. R->C;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10973241,ECO:0000269|PubMed:1 |
| P01137 | 211 | 237 | 218 | 218 | Natural variant | ID=VAR_017609;Note=In CAEND. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10973241;Dbxref=PMID:10973241 |
| P01137 | 211 | 237 | 222 | 222 | Natural variant | ID=VAR_017610;Note=In CAEND%3B sporadic case%3B higher levels of active TGF-beta-1 in the culture medium. H->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12493741;Dbxref=PMID:12493741 |
| P01137 | 211 | 237 | 223 | 223 | Natural variant | ID=VAR_067303;Note=In CAEND. C->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15103729;Dbxref=PMID:15103729 |
| P01137 | 211 | 237 | 223 | 223 | Natural variant | ID=VAR_067304;Note=In CAEND. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15103729;Dbxref=PMID:15103729 |
| P01137 | 211 | 237 | 225 | 225 | Natural variant | ID=VAR_017611;Note=In CAEND%3B higher levels of active TGF-beta-1 in the culture medium. C->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10973241,ECO:0000269|PubMed:11062463,ECO:0000269|PubMed:12493741;Dbxref=PMID:109732 |
| P01137 | 211 | 237 | 75 | 271 | Region | Note=Arm domain;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P07200 |
| P01137 | 211 | 237 | 226 | 252 | Region | Note=Bowtie tail;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28117447;Dbxref=PMID:28117447 |
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SNVs in the skipped exons for TGFB1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_318888 | 41847788 | 41847935 | 41847810 | 41847810 | Frame_Shift_Del | G | - | p.L280fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_318898 | 41850652 | 41850769 | 41850658 | 41850658 | Frame_Shift_Del | G | - | p.R210fs |
| LUAD | TCGA-44-7662-01 | exon_skip_318888 | 41847788 | 41847935 | 41847918 | 41847918 | Nonsense_Mutation | G | A | p.R244* |
| LUAD | TCGA-05-4432-01 | exon_skip_318888 | 41847788 | 41847935 | 41847787 | 41847787 | Splice_Site | C | A | p.S287_splice |
| COAD | TCGA-AA-3555-01 | exon_skip_318898 | 41850652 | 41850769 | 41850770 | 41850770 | Splice_Site | C | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 41847788 | 41847935 | 41847823 | 41847823 | Frame_Shift_Del | C | - | p.R275fs |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 41847788 | 41847935 | 41847921 | 41847921 | Missense_Mutation | G | A | p.R243C |
| HEC108_ENDOMETRIUM | 41848075 | 41848152 | 41848107 | 41848107 | Missense_Mutation | C | T | p.S227N |
| C33A_CERVIX | 41848075 | 41848152 | 41848126 | 41848126 | Missense_Mutation | C | T | p.A221T |
| SNU175_LARGE_INTESTINE | 41848075 | 41848152 | 41848126 | 41848126 | Missense_Mutation | C | T | p.A221T |
| SNU175_LARGE_INTESTINE | 41848075 | 41848152 | 41848134 | 41848134 | Missense_Mutation | C | T | p.R218H |
| RH30_SOFT_TISSUE | 41848075 | 41848152 | 41848145 | 41848145 | Missense_Mutation | A | C | p.I214M |
| 697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 41850652 | 41850769 | 41850661 | 41850661 | Missense_Mutation | T | G | p.S209R |
| RKO_LARGE_INTESTINE | 41850652 | 41850769 | 41850672 | 41850672 | Missense_Mutation | C | A | p.R205L |
| MFM223_BREAST | 41854200 | 41854360 | 41854303 | 41854303 | Missense_Mutation | G | A | p.S138L |
| SNU81_LARGE_INTESTINE | 41854200 | 41854360 | 41854314 | 41854314 | Missense_Mutation | G | T | p.F134L |
| NCIH2023_LUNG | 41854200 | 41854360 | 41854211 | 41854211 | Nonsense_Mutation | C | A | p.E169* |
| NCIH2023_LUNG | 41854200 | 41854360 | 41854211 | 41854212 | Nonsense_Mutation | CC | AA | p.E169* |
| SF172_CENTRAL_NERVOUS_SYSTEM | 41848075 | 41848152 | 41848075 | 41848075 | Splice_Site | C | A | p.G238W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TGFB1 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TGFB1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TGFB1 |
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RelatedDrugs for TGFB1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TGFB1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TGFB1 | C0034069 | Pulmonary Fibrosis | 7 | CTD_human;HPO |
| TGFB1 | C0016059 | Fibrosis | 6 | CTD_human |
| TGFB1 | C0027626 | Neoplasm Invasiveness | 5 | CTD_human |
| TGFB1 | C0011989 | Camurati-Engelmann Syndrome | 4 | CTD_human;HPO;ORPHANET;UNIPROT |
| TGFB1 | C0023893 | Liver Cirrhosis, Experimental | 4 | CTD_human |
| TGFB1 | C0017668 | Focal glomerulosclerosis | 3 | CTD_human |
| TGFB1 | C0022658 | Kidney Diseases | 3 | CTD_human |
| TGFB1 | C0024121 | Lung Neoplasms | 3 | CTD_human |
| TGFB1 | C0027627 | Neoplasm Metastasis | 3 | CTD_human |
| TGFB1 | C0027726 | Nephrotic Syndrome | 3 | CTD_human |
| TGFB1 | C0004096 | Asthma | 2 | CTD_human |
| TGFB1 | C0005138 | Berylliosis | 2 | CTD_human |
| TGFB1 | C0011853 | Diabetes Mellitus, Experimental | 2 | CTD_human |
| TGFB1 | C0011881 | Diabetic Nephropathy | 2 | CTD_human |
| TGFB1 | C0020517 | Hypersensitivity | 2 | CTD_human |
| TGFB1 | C0020538 | Hypertensive disease | 2 | CTD_human |
| TGFB1 | C0021368 | Inflammation | 2 | CTD_human |
| TGFB1 | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| TGFB1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| TGFB1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| TGFB1 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human |
| TGFB1 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| TGFB1 | C0006663 | Calcinosis | 1 | CTD_human |
| TGFB1 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| TGFB1 | C0007140 | Carcinosarcoma | 1 | CTD_human |
| TGFB1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| TGFB1 | C0008925 | Cleft Palate | 1 | CTD_human |
| TGFB1 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| TGFB1 | C0011581 | Depressive disorder | 1 | PSYGENET |
| TGFB1 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| TGFB1 | C0011882 | Diabetic Neuropathies | 1 | CTD_human |
| TGFB1 | C0013238 | Dry Eye Syndromes | 1 | CTD_human |
| TGFB1 | C0013264 | Muscular Dystrophy, Duchenne | 1 | CTD_human |
| TGFB1 | C0013295 | Duodenal Ulcer | 1 | CTD_human |
| TGFB1 | C0017661 | IGA Glomerulonephritis | 1 | CTD_human |
| TGFB1 | C0019189 | Hepatitis, Chronic | 1 | CTD_human |
| TGFB1 | C0019284 | Diaphragmatic Hernia | 1 | CTD_human |
| TGFB1 | C0020507 | Hyperplasia | 1 | CTD_human |
| TGFB1 | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
| TGFB1 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| TGFB1 | C0023891 | Liver Cirrhosis, Alcoholic | 1 | CTD_human |
| TGFB1 | C0024115 | Lung diseases | 1 | CTD_human |
| TGFB1 | C0024117 | Chronic Obstructive Airway Disease | 1 | CTD_human |
| TGFB1 | C0026848 | Myopathy | 1 | CTD_human |
| TGFB1 | C0027051 | Myocardial Infarction | 1 | CTD_human |
| TGFB1 | C0028797 | Occupational Diseases | 1 | CTD_human |
| TGFB1 | C0029172 | Oral Submucous Fibrosis | 1 | CTD_human |
| TGFB1 | C0029456 | Osteoporosis | 1 | CTD_human |
| TGFB1 | C0029458 | Osteoporosis, Postmenopausal | 1 | CTD_human |
| TGFB1 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| TGFB1 | C0030354 | Papilloma | 1 | CTD_human |
| TGFB1 | C0030848 | Peyronie Disease | 1 | CTD_human |
| TGFB1 | C0032226 | Pleural Diseases | 1 | CTD_human |
| TGFB1 | C0032285 | Pneumonia | 1 | CTD_human |
| TGFB1 | C0033687 | Proteinuria | 1 | CTD_human |
| TGFB1 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| TGFB1 | C0034067 | Pulmonary Emphysema | 1 | CTD_human |
| TGFB1 | C0036202 | Sarcoidosis | 1 | CTD_human |
| TGFB1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| TGFB1 | C0037286 | Skin Neoplasms | 1 | CTD_human |
| TGFB1 | C0038454 | Cerebrovascular accident | 1 | CTD_human |
| TGFB1 | C0040028 | Thrombocythemia, Essential | 1 | CTD_human |
| TGFB1 | C0041948 | Uremia | 1 | CTD_human |
| TGFB1 | C0041956 | Ureteral obstruction | 1 | CTD_human |
| TGFB1 | C0042109 | Urticaria | 1 | CTD_human |
| TGFB1 | C0086132 | Depressive Symptoms | 1 | PSYGENET |
| TGFB1 | C0158266 | Intervertebral Disc Degeneration | 1 | CTD_human |
| TGFB1 | C0241910 | Hepatitis, Autoimmune | 1 | CTD_human |
| TGFB1 | C0242488 | Acute Lung Injury | 1 | CTD_human |
| TGFB1 | C0243026 | Sepsis | 1 | CTD_human |
| TGFB1 | C0264423 | Asthma, Occupational | 1 | CTD_human |
| TGFB1 | C0265287 | Acromicric Dysplasia | 1 | CTD_human |
| TGFB1 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| TGFB1 | C0400966 | Non-alcoholic Fatty Liver Disease | 1 | CTD_human |
| TGFB1 | C0455503 | H/O: depression | 1 | PSYGENET |
| TGFB1 | C0521607 | Peritoneal Fibrosis | 1 | CTD_human |
| TGFB1 | C0525045 | Mood Disorders | 1 | PSYGENET |
| TGFB1 | C0553980 | Endomyocardial Fibrosis | 1 | CTD_human |
| TGFB1 | C0600519 | Ventricular Remodeling | 1 | CTD_human |
| TGFB1 | C1876165 | Copper-Overload Cirrhosis | 1 | CTD_human |
| TGFB1 | C2239176 | Liver carcinoma | 1 | CTD_human |
| TGFB1 | C2609414 | Acute kidney injury | 1 | CTD_human |
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