GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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 |
GO:000717823 | Thyroid | ATC | transmembrane receptor protein serine/threonine kinase signaling pathway | 170/6293 | 355/18723 | 1.40e-08 | 2.87e-07 | 170 |
GO:007160422 | Thyroid | ATC | transforming growth factor beta production | 25/6293 | 43/18723 | 8.24e-04 | 4.53e-03 | 25 |
GO:007163422 | Thyroid | ATC | regulation of transforming growth factor beta production | 24/6293 | 41/18723 | 9.12e-04 | 4.92e-03 | 24 |
GO:000716225 | Thyroid | ATC | negative regulation of cell adhesion | 127/6293 | 303/18723 | 1.45e-03 | 7.47e-03 | 127 |
GO:00600211 | Thyroid | ATC | roof of mouth development | 42/6293 | 85/18723 | 1.83e-03 | 9.02e-03 | 42 |
GO:00363631 | Thyroid | ATC | transforming growth factor beta activation | 8/6293 | 10/18723 | 3.60e-03 | 1.58e-02 | 8 |
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 |
LRRC32 | SNV | Missense_Mutation | rs754104595 | c.1166N>A | p.Arg389Gln | p.R389Q | Q14392 | protein_coding | tolerated(0.6) | benign(0.013) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
LRRC32 | SNV | Missense_Mutation | novel | c.1900N>C | p.Phe634Leu | p.F634L | Q14392 | protein_coding | tolerated(0.32) | benign(0.003) | TCGA-D1-A1O0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LRRC32 | SNV | Missense_Mutation | novel | c.16N>A | p.Leu6Met | p.L6M | Q14392 | protein_coding | deleterious(0.05) | possibly_damaging(0.888) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
LRRC32 | SNV | Missense_Mutation | novel | c.1558A>C | p.Asn520His | p.N520H | Q14392 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-DF-A2KV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
LRRC32 | SNV | Missense_Mutation | novel | c.92N>C | p.Lys31Thr | p.K31T | Q14392 | protein_coding | tolerated(0.3) | benign(0.062) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
LRRC32 | SNV | Missense_Mutation | novel | c.1736G>A | p.Gly579Asp | p.G579D | Q14392 | protein_coding | tolerated(0.15) | benign(0.039) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LRRC32 | SNV | Missense_Mutation | novel | c.756N>T | p.Glu252Asp | p.E252D | Q14392 | protein_coding | deleterious(0.05) | probably_damaging(0.943) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
LRRC32 | SNV | Missense_Mutation | novel | c.1851N>A | p.Asp617Glu | p.D617E | Q14392 | protein_coding | tolerated(0.13) | possibly_damaging(0.907) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
LRRC32 | SNV | Missense_Mutation | novel | c.1160C>T | p.Ser387Phe | p.S387F | Q14392 | protein_coding | deleterious(0.01) | possibly_damaging(0.828) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
LRRC32 | SNV | Missense_Mutation | rs566149427 | c.1073G>A | p.Arg358His | p.R358H | Q14392 | protein_coding | tolerated(0.7) | benign(0) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |