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 | novel | c.1346G>A | p.Ser449Asn | p.S449N | Q14392 | protein_coding | tolerated(1) | benign(0) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LRRC32 | SNV | Missense_Mutation | novel | c.1984N>A | p.Ala662Thr | p.A662T | Q14392 | protein_coding | deleterious(0) | possibly_damaging(0.503) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
LRRC32 | SNV | Missense_Mutation | novel | c.1249N>A | p.Leu417Met | p.L417M | Q14392 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AX-A3FS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LRRC32 | SNV | Missense_Mutation | | c.1729G>A | p.Gly577Ser | p.G577S | Q14392 | protein_coding | tolerated(0.19) | benign(0.212) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
LRRC32 | SNV | Missense_Mutation | | c.1569G>T | p.Glu523Asp | p.E523D | Q14392 | protein_coding | tolerated(0.18) | benign(0.031) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
LRRC32 | SNV | Missense_Mutation | | c.979N>C | p.Ile327Leu | p.I327L | Q14392 | protein_coding | tolerated(0.15) | benign(0.164) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LRRC32 | SNV | Missense_Mutation | rs747056345 | c.226N>T | p.Arg76Cys | p.R76C | Q14392 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LRRC32 | SNV | Missense_Mutation | | c.1802G>A | p.Arg601His | p.R601H | Q14392 | protein_coding | tolerated(0.13) | benign(0.001) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LRRC32 | SNV | Missense_Mutation | | c.1145N>T | p.Ala382Val | p.A382V | Q14392 | protein_coding | tolerated(0.09) | benign(0.001) | TCGA-D1-A167-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LRRC32 | SNV | Missense_Mutation | rs367700341 | c.1955N>A | p.Arg652His | p.R652H | Q14392 | protein_coding | deleterious(0) | possibly_damaging(0.894) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |