Tissue | Expression Dynamics | Abbreviation |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Thyroid | | 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:001605517 | Esophagus | ESCC | Wnt signaling pathway | 268/8552 | 444/18723 | 2.32e-10 | 6.58e-09 | 268 |
GO:019873817 | Esophagus | ESCC | cell-cell signaling by wnt | 269/8552 | 446/18723 | 2.41e-10 | 6.79e-09 | 269 |
GO:0009408110 | Esophagus | ESCC | response to heat | 77/8552 | 110/18723 | 2.01e-07 | 3.11e-06 | 77 |
GO:00163316 | Esophagus | ESCC | morphogenesis of embryonic epithelium | 98/8552 | 147/18723 | 2.12e-07 | 3.27e-06 | 98 |
GO:00715599 | Esophagus | ESCC | response to transforming growth factor beta | 157/8552 | 256/18723 | 2.95e-07 | 4.23e-06 | 157 |
GO:00715609 | Esophagus | ESCC | cellular response to transforming growth factor beta stimulus | 151/8552 | 250/18723 | 1.78e-06 | 2.10e-05 | 151 |
GO:00107184 | Esophagus | ESCC | positive regulation of epithelial to mesenchymal transition | 40/8552 | 52/18723 | 4.25e-06 | 4.56e-05 | 40 |
GO:00071799 | Esophagus | ESCC | transforming growth factor beta receptor signaling pathway | 121/8552 | 198/18723 | 8.26e-06 | 8.03e-05 | 121 |
GO:00454449 | Esophagus | ESCC | fat cell differentiation | 135/8552 | 229/18723 | 3.38e-05 | 2.78e-04 | 135 |
GO:00018378 | Esophagus | ESCC | epithelial to mesenchymal transition | 95/8552 | 157/18723 | 1.25e-04 | 8.56e-04 | 95 |
GO:000926619 | Esophagus | ESCC | response to temperature stimulus | 106/8552 | 178/18723 | 1.30e-04 | 8.84e-04 | 106 |
GO:000717810 | Esophagus | ESCC | transmembrane receptor protein serine/threonine kinase signaling pathway | 195/8552 | 355/18723 | 2.58e-04 | 1.58e-03 | 195 |
GO:00487628 | Esophagus | ESCC | mesenchymal cell differentiation | 133/8552 | 236/18723 | 5.94e-04 | 3.22e-03 | 133 |
GO:00305115 | Esophagus | ESCC | positive regulation of transforming growth factor beta receptor signaling pathway | 24/8552 | 32/18723 | 7.22e-04 | 3.77e-03 | 24 |
GO:19038465 | Esophagus | ESCC | positive regulation of cellular response to transforming growth factor beta stimulus | 24/8552 | 32/18723 | 7.22e-04 | 3.77e-03 | 24 |
GO:00107174 | Esophagus | ESCC | regulation of epithelial to mesenchymal transition | 61/8552 | 99/18723 | 1.01e-03 | 5.09e-03 | 61 |
GO:00170156 | Esophagus | ESCC | regulation of transforming growth factor beta receptor signaling pathway | 75/8552 | 128/18723 | 2.19e-03 | 9.71e-03 | 75 |
GO:19038447 | Esophagus | ESCC | regulation of cellular response to transforming growth factor beta stimulus | 76/8552 | 131/18723 | 2.96e-03 | 1.24e-02 | 76 |
GO:00604856 | Esophagus | ESCC | mesenchyme development | 156/8552 | 291/18723 | 3.76e-03 | 1.53e-02 | 156 |
GO:00455984 | Esophagus | ESCC | regulation of fat cell differentiation | 79/8552 | 139/18723 | 5.23e-03 | 1.97e-02 | 79 |
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 |
TGFB1I1 | deletion | In_Frame_Del | | c.376_378delAAG | p.Lys126del | p.K126del | O43294 | protein_coding | | | TCGA-WS-AB45-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TGFB1I1 | SNV | Missense_Mutation | rs769255371 | c.80N>A | p.Arg27His | p.R27H | O43294 | protein_coding | tolerated(0.13) | benign(0.417) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
TGFB1I1 | SNV | Missense_Mutation | novel | c.155N>T | p.Ala52Val | p.A52V | O43294 | protein_coding | tolerated(0.29) | benign(0.11) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
TGFB1I1 | SNV | Missense_Mutation | | c.34N>A | p.Glu12Lys | p.E12K | O43294 | protein_coding | deleterious(0.01) | possibly_damaging(0.675) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
TGFB1I1 | SNV | Missense_Mutation | rs778169254 | c.283C>T | p.Arg95Trp | p.R95W | O43294 | protein_coding | deleterious(0) | possibly_damaging(0.8) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TGFB1I1 | SNV | Missense_Mutation | novel | c.394N>T | p.Asp132Tyr | p.D132Y | O43294 | protein_coding | deleterious(0) | benign(0.07) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
TGFB1I1 | SNV | Missense_Mutation | rs752330093 | c.748N>A | p.Glu250Lys | p.E250K | O43294 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
TGFB1I1 | SNV | Missense_Mutation | novel | c.985N>A | p.Glu329Lys | p.E329K | O43294 | protein_coding | deleterious(0) | possibly_damaging(0.874) | TCGA-AX-A3FS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TGFB1I1 | SNV | Missense_Mutation | | c.289N>T | p.Leu97Phe | p.L97F | O43294 | protein_coding | deleterious(0) | possibly_damaging(0.876) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
TGFB1I1 | SNV | Missense_Mutation | rs747679972 | c.79N>T | p.Arg27Cys | p.R27C | O43294 | protein_coding | deleterious(0.02) | possibly_damaging(0.498) | TCGA-B5-A11G-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |