GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00715598 | Oral cavity | OSCC | response to transforming growth factor beta | 140/7305 | 256/18723 | 2.34e-07 | 3.70e-06 | 140 |
GO:00715608 | Oral cavity | OSCC | cellular response to transforming growth factor beta stimulus | 137/7305 | 250/18723 | 2.68e-07 | 4.15e-06 | 137 |
GO:00071798 | Oral cavity | OSCC | transforming growth factor beta receptor signaling pathway | 109/7305 | 198/18723 | 3.21e-06 | 3.86e-05 | 109 |
GO:00170155 | Oral cavity | OSCC | regulation of transforming growth factor beta receptor signaling pathway | 71/7305 | 128/18723 | 1.14e-04 | 8.34e-04 | 71 |
GO:19038446 | Oral cavity | OSCC | regulation of cellular response to transforming growth factor beta stimulus | 72/7305 | 131/18723 | 1.51e-04 | 1.06e-03 | 72 |
GO:00071789 | Oral cavity | OSCC | transmembrane receptor protein serine/threonine kinase signaling pathway | 165/7305 | 355/18723 | 2.31e-03 | 1.02e-02 | 165 |
GO:00071833 | Oral cavity | OSCC | SMAD protein complex assembly | 10/7305 | 13/18723 | 6.32e-03 | 2.35e-02 | 10 |
GO:007155919 | Thyroid | PTC | response to transforming growth factor beta | 131/5968 | 256/18723 | 9.20e-11 | 3.17e-09 | 131 |
GO:007156019 | Thyroid | PTC | cellular response to transforming growth factor beta stimulus | 126/5968 | 250/18723 | 7.34e-10 | 2.19e-08 | 126 |
GO:000717919 | Thyroid | PTC | transforming growth factor beta receptor signaling pathway | 104/5968 | 198/18723 | 1.20e-09 | 3.47e-08 | 104 |
GO:001701515 | Thyroid | PTC | regulation of transforming growth factor beta receptor signaling pathway | 69/5968 | 128/18723 | 1.92e-07 | 3.51e-06 | 69 |
GO:190384415 | Thyroid | PTC | regulation of cellular response to transforming growth factor beta stimulus | 70/5968 | 131/18723 | 2.47e-07 | 4.31e-06 | 70 |
GO:000717819 | Thyroid | PTC | transmembrane receptor protein serine/threonine kinase signaling pathway | 156/5968 | 355/18723 | 1.02e-06 | 1.51e-05 | 156 |
GO:00900925 | Thyroid | PTC | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 108/5968 | 256/18723 | 3.07e-04 | 2.14e-03 | 108 |
GO:00305124 | Thyroid | PTC | negative regulation of transforming growth factor beta receptor signaling pathway | 39/5968 | 81/18723 | 1.61e-03 | 8.93e-03 | 39 |
GO:009028712 | Thyroid | PTC | regulation of cellular response to growth factor stimulus | 120/5968 | 304/18723 | 2.87e-03 | 1.42e-02 | 120 |
GO:00901013 | Thyroid | PTC | negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 56/5968 | 131/18723 | 5.63e-03 | 2.55e-02 | 56 |
GO:007155925 | Thyroid | ATC | response to transforming growth factor beta | 142/6293 | 256/18723 | 4.30e-13 | 1.94e-11 | 142 |
GO:007156026 | Thyroid | ATC | cellular response to transforming growth factor beta stimulus | 137/6293 | 250/18723 | 3.69e-12 | 1.49e-10 | 137 |
GO:000717924 | Thyroid | ATC | transforming growth factor beta receptor signaling pathway | 112/6293 | 198/18723 | 2.42e-11 | 8.44e-10 | 112 |
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 |
EID2 | insertion | Frame_Shift_Ins | novel | c.323_324insTTTGTGTTTTCTTAGG | p.Ala109LeufsTer44 | p.A109Lfs*44 | Q8N6I1 | protein_coding | | | TCGA-A8-A090-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EID2 | insertion | Nonsense_Mutation | novel | c.351_352insTGAAGTTATCAACCCTCT | p.Asp117_Glu118insTer | p.D117_E118ins* | Q8N6I1 | protein_coding | | | TCGA-AQ-A04J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
EID2 | SNV | Missense_Mutation | novel | c.407N>T | p.Ala136Val | p.A136V | Q8N6I1 | protein_coding | deleterious(0.02) | possibly_damaging(0.805) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
EID2 | SNV | Missense_Mutation | novel | c.660N>G | p.Ile220Met | p.I220M | Q8N6I1 | protein_coding | tolerated(0.06) | probably_damaging(0.997) | TCGA-JX-A3Q0-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
EID2 | SNV | Missense_Mutation | | c.317N>T | p.Ala106Val | p.A106V | Q8N6I1 | protein_coding | deleterious(0.01) | probably_damaging(0.994) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
EID2 | SNV | Missense_Mutation | novel | c.621T>G | p.Ile207Met | p.I207M | Q8N6I1 | protein_coding | tolerated(0.05) | benign(0.316) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
EID2 | SNV | Missense_Mutation | novel | c.610G>T | p.Asp204Tyr | p.D204Y | Q8N6I1 | protein_coding | tolerated(0.06) | probably_damaging(0.998) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
EID2 | SNV | Missense_Mutation | novel | c.647C>A | p.Ala216Asp | p.A216D | Q8N6I1 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EID2 | SNV | Missense_Mutation | | c.469N>A | p.Leu157Ile | p.L157I | Q8N6I1 | protein_coding | deleterious(0.04) | benign(0.059) | TCGA-D1-A16X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EID2 | SNV | Missense_Mutation | | c.469C>A | p.Leu157Ile | p.L157I | Q8N6I1 | protein_coding | deleterious(0.04) | benign(0.059) | TCGA-EO-A3AY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |