Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Esophagus/TGFBR1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Liver/TGFBR1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/OralCavity/TGFBR1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Skin | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Skin/TGFBR1_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Thyroid/TGFBR1_pca_on_diff_genes.png) | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:2001233111 | Esophagus | ESCC | regulation of apoptotic signaling pathway | 256/8552 | 356/18723 | 4.11e-24 | 1.04e-21 | 256 |
GO:0022411111 | Esophagus | ESCC | cellular component disassembly | 305/8552 | 443/18723 | 1.94e-23 | 4.57e-21 | 305 |
GO:1903320111 | Esophagus | ESCC | regulation of protein modification by small protein conjugation or removal | 181/8552 | 242/18723 | 1.80e-20 | 2.60e-18 | 181 |
GO:0051098111 | Esophagus | ESCC | regulation of binding | 251/8552 | 363/18723 | 6.73e-20 | 8.46e-18 | 251 |
GO:0031396111 | Esophagus | ESCC | regulation of protein ubiquitination | 154/8552 | 210/18723 | 2.70e-16 | 2.04e-14 | 154 |
GO:0097191111 | Esophagus | ESCC | extrinsic apoptotic signaling pathway | 159/8552 | 219/18723 | 4.12e-16 | 2.94e-14 | 159 |
GO:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
GO:2001234111 | Esophagus | ESCC | negative regulation of apoptotic signaling pathway | 161/8552 | 224/18723 | 1.24e-15 | 8.09e-14 | 161 |
GO:2001236111 | Esophagus | ESCC | regulation of extrinsic apoptotic signaling pathway | 111/8552 | 151/18723 | 2.97e-12 | 1.18e-10 | 111 |
GO:0048732111 | Esophagus | ESCC | gland development | 269/8552 | 436/18723 | 7.81e-12 | 2.95e-10 | 269 |
GO:004339320 | Esophagus | ESCC | regulation of protein binding | 135/8552 | 196/18723 | 3.69e-11 | 1.22e-09 | 135 |
GO:1902905111 | Esophagus | ESCC | positive regulation of supramolecular fiber organization | 142/8552 | 209/18723 | 5.51e-11 | 1.76e-09 | 142 |
GO:1902903111 | Esophagus | ESCC | regulation of supramolecular fiber organization | 237/8552 | 383/18723 | 9.06e-11 | 2.75e-09 | 237 |
GO:0016049110 | Esophagus | ESCC | cell growth | 289/8552 | 482/18723 | 1.29e-10 | 3.77e-09 | 289 |
GO:2001235110 | Esophagus | ESCC | positive regulation of apoptotic signaling pathway | 92/8552 | 126/18723 | 3.91e-10 | 1.05e-08 | 92 |
GO:005149520 | Esophagus | ESCC | positive regulation of cytoskeleton organization | 147/8552 | 226/18723 | 2.93e-09 | 6.38e-08 | 147 |
GO:000155819 | Esophagus | ESCC | regulation of cell growth | 248/8552 | 414/18723 | 2.97e-09 | 6.45e-08 | 248 |
GO:000701527 | Esophagus | ESCC | actin filament organization | 259/8552 | 442/18723 | 2.37e-08 | 4.50e-07 | 259 |
GO:0061458110 | Esophagus | ESCC | reproductive system development | 247/8552 | 427/18723 | 2.24e-07 | 3.42e-06 | 247 |
GO:004860818 | Esophagus | ESCC | reproductive structure development | 245/8552 | 424/18723 | 2.82e-07 | 4.14e-06 | 245 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
TGFBR1 | SNV | Missense_Mutation | | c.1210N>T | p.Asp404Tyr | p.D404Y | P36897 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
TGFBR1 | SNV | Missense_Mutation | | c.695N>T | p.Glu232Val | p.E232V | P36897 | protein_coding | deleterious(0) | benign(0.251) | TCGA-AO-A12D-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
TGFBR1 | SNV | Missense_Mutation | | c.239G>A | p.Arg80Gln | p.R80Q | P36897 | protein_coding | tolerated(0.49) | benign(0.149) | TCGA-AR-A2LE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | PD |
TGFBR1 | SNV | Missense_Mutation | | c.1200N>G | p.Phe400Leu | p.F400L | P36897 | protein_coding | deleterious(0) | probably_damaging(0.964) | TCGA-BH-A0B5-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | CR |
TGFBR1 | SNV | Missense_Mutation | | c.559N>T | p.Asp187Tyr | p.D187Y | P36897 | protein_coding | tolerated(0.05) | probably_damaging(0.998) | TCGA-BH-A0H5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
TGFBR1 | insertion | In_Frame_Ins | novel | c.1379_1380insTCCTTGTTCCTTCTTACTTCTTCATAGTTGTCTTTGTTTTCT | p.Asn460_Arg461insProCysSerPheLeuLeuLeuHisSerCysLeuCysPheLeu | p.N460_R461insPCSFLLLHSCLCFL | P36897 | protein_coding | | | TCGA-AN-A0FS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TGFBR1 | insertion | Frame_Shift_Ins | novel | c.434_435insTACTC | p.Met146ThrfsTer4 | p.M146Tfs*4 | P36897 | protein_coding | | | TCGA-AR-A0TU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Doxorubicin | SD |
TGFBR1 | insertion | Nonsense_Mutation | novel | c.656_657insAGGGAAATGAATGAC | p.Arg219_Phe220insGlyLysTerMetThr | p.R219_F220insGK*MT | P36897 | protein_coding | | | TCGA-AR-A0TU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Doxorubicin | SD |
TGFBR1 | insertion | Frame_Shift_Ins | novel | c.434_435insTACTC | p.Met146ThrfsTer4 | p.M146Tfs*4 | P36897 | protein_coding | | | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TGFBR1 | SNV | Missense_Mutation | novel | c.1465N>A | p.Ala489Thr | p.A489T | P36897 | protein_coding | deleterious(0.03) | probably_damaging(0.929) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
7046 | TGFBR1 | DRUGGABLE GENOME, ENZYME, KINASE, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, CELL SURFACE, TUMOR SUPPRESSOR | inhibitor | 249565800 | | |
7046 | TGFBR1 | DRUGGABLE GENOME, ENZYME, KINASE, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, CELL SURFACE, TUMOR SUPPRESSOR | | LY2157299 | | |
7046 | TGFBR1 | DRUGGABLE GENOME, ENZYME, KINASE, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, CELL SURFACE, TUMOR SUPPRESSOR | | Metelimumab | METELIMUMAB | |
7046 | TGFBR1 | DRUGGABLE GENOME, ENZYME, KINASE, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, CELL SURFACE, TUMOR SUPPRESSOR | inhibitor | 252166689 | | |
7046 | TGFBR1 | DRUGGABLE GENOME, ENZYME, KINASE, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, CELL SURFACE, TUMOR SUPPRESSOR | | LY-2382770 | LY-2382770 | |
7046 | TGFBR1 | DRUGGABLE GENOME, ENZYME, KINASE, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, CELL SURFACE, TUMOR SUPPRESSOR | inhibitor | HESPERADIN | HESPERADIN | 19035792 |
7046 | TGFBR1 | DRUGGABLE GENOME, ENZYME, KINASE, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, CELL SURFACE, TUMOR SUPPRESSOR | inhibitor | 178102671 | | |
7046 | TGFBR1 | DRUGGABLE GENOME, ENZYME, KINASE, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, CELL SURFACE, TUMOR SUPPRESSOR | inhibitor | 223366128 | GALUNISERTIB | |
7046 | TGFBR1 | DRUGGABLE GENOME, ENZYME, KINASE, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, CELL SURFACE, TUMOR SUPPRESSOR | inhibitor | 249565874 | | |
7046 | TGFBR1 | DRUGGABLE GENOME, ENZYME, KINASE, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, CELL SURFACE, TUMOR SUPPRESSOR | inhibitor | 249565787 | VACTOSERTIB | |