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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 TGFBR2 |
 Gene summary |
| Gene information | Gene symbol | TGFBR2 | Gene ID | 7048 |
| Gene name | transforming growth factor beta receptor 2 | |
| Synonyms | AAT3|FAA3|LDS1B|LDS2|LDS2B|MFS2|RIIC|TAAD2|TBR-ii|TBRII|TGFR-2|TGFbeta-RII | |
| Cytomap | 3p24.1 | |
| Type of gene | protein-coding | |
| Description | 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 | 20180527 | |
| UniProtAcc | P37173 | |
| Context | PubMed: TGFBR2 [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 |
| TGFBR2 | GO:0006468 | protein phosphorylation | 12015308 |
| TGFBR2 | GO:0006915 | apoptotic process | 17471240 |
| TGFBR2 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 18453574 |
| TGFBR2 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 26459119 |
| TGFBR2 | GO:0018105 | peptidyl-serine phosphorylation | 12015308 |
| TGFBR2 | GO:0018107 | peptidyl-threonine phosphorylation | 12015308 |
| TGFBR2 | GO:0042493 | response to drug | 17878231 |
| TGFBR2 | GO:0060389 | pathway-restricted SMAD protein phosphorylation | 18453574 |
| TGFBR2 | GO:0070723 | response to cholesterol | 17878231 |
| TGFBR2 | GO:2000563 | positive regulation of CD4-positive, alpha-beta T cell proliferation | 17164348 |
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Exon skipping events across known transcript of Ensembl for TGFBR2 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 TGFBR2 |
| 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 TGFBR2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_372332 | 3 | 30648092:30648469:30664690:30664765:30686238:30686407 | 30664690:30664765 | ENSG00000163513.13 | ENST00000359013.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TGFBR2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_372332 | 3 | 30648092:30648469:30664690:30664765:30686238:30686407 | 30664690:30664765 | ENSG00000163513.13 | ENST00000359013.4 |
| 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 TGFBR2 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for TGFBR2 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for TGFBR2 |
| - 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 |
| CHOL | TCGA-W5-AA39-01 | exon_skip_372332 | 30664691 | 30664765 | 30664759 | 30664775 | Frame_Shift_Del | AGACATAGTAAAGTATC | - | p.54_57del |
| - 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TGFBR2 |
| 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 TGFBR2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TGFBR2 |
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RelatedDrugs for TGFBR2 |
| 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 |
| P37173 | DB09462 | Glycerin | TGF-beta receptor type-2 | small molecule | approved|investigational | |
| P37173 | DB12010 | Fostamatinib | TGF-beta receptor type-2 | small molecule | approved|investigational |
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RelatedDiseases for TGFBR2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TGFBR2 | C2674574 | Aortic aneurysm, familial thoracic 3 | 11 | CTD_human;ORPHANET;UNIPROT |
| TGFBR2 | C2697932 | Loeys-Dietz Syndrome | 5 | CTD_human |
| TGFBR2 | C0002949 | Aneurysm, Dissecting | 2 | CTD_human;HPO |
| TGFBR2 | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human |
| TGFBR2 | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
| TGFBR2 | C0920269 | Microsatellite Instability | 2 | CTD_human |
| TGFBR2 | C1860896 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 | 2 | UNIPROT |
| TGFBR2 | C0003486 | Aortic Aneurysm | 1 | CTD_human;HPO |
| TGFBR2 | C0005940 | Bone Diseases | 1 | CTD_human |
| TGFBR2 | C0005967 | Bone neoplasms | 1 | CTD_human |
| TGFBR2 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| TGFBR2 | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 1 | CTD_human |
| TGFBR2 | C0011881 | Diabetic Nephropathy | 1 | CTD_human |
| TGFBR2 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| TGFBR2 | C0015393 | Eye Abnormalities | 1 | CTD_human |
| TGFBR2 | C0015672 | Fatigue | 1 | CTD_human;HPO |
| TGFBR2 | C0019294 | Hernia, Inguinal | 1 | CTD_human |
| TGFBR2 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| TGFBR2 | C0024796 | Marfan Syndrome | 1 | CTD_human |
| TGFBR2 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| TGFBR2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| TGFBR2 | C0036341 | Schizophrenia | 1 | PSYGENET |
| TGFBR2 | C0149931 | Migraine Disorders | 1 | CTD_human;HPO |
| TGFBR2 | C0152018 | Esophageal carcinoma | 1 | HPO;UNIPROT |
| TGFBR2 | C0162872 | Aortic Aneurysm, Thoracic | 1 | CTD_human |
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