GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0071900110 | Thyroid | PTC | regulation of protein serine/threonine kinase activity | 164/5968 | 359/18723 | 2.41e-08 | 5.43e-07 | 164 |
GO:00400297 | Thyroid | PTC | regulation of gene expression, epigenetic | 57/5968 | 105/18723 | 1.60e-06 | 2.25e-05 | 57 |
GO:190402912 | Thyroid | PTC | regulation of cyclin-dependent protein kinase activity | 49/5968 | 98/18723 | 1.40e-04 | 1.09e-03 | 49 |
GO:000007912 | Thyroid | PTC | regulation of cyclin-dependent protein serine/threonine kinase activity | 47/5968 | 94/18723 | 1.90e-04 | 1.42e-03 | 47 |
GO:007190025 | Thyroid | ATC | regulation of protein serine/threonine kinase activity | 176/6293 | 359/18723 | 8.35e-10 | 2.17e-08 | 176 |
GO:004002913 | Thyroid | ATC | regulation of gene expression, epigenetic | 57/6293 | 105/18723 | 1.01e-05 | 1.00e-04 | 57 |
GO:190402921 | Thyroid | ATC | regulation of cyclin-dependent protein kinase activity | 53/6293 | 98/18723 | 2.36e-05 | 2.06e-04 | 53 |
GO:000007921 | Thyroid | ATC | regulation of cyclin-dependent protein serine/threonine kinase activity | 51/6293 | 94/18723 | 2.97e-05 | 2.48e-04 | 51 |
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 |
DIRAS3 | SNV | Missense_Mutation | novel | c.638N>A | p.Ser213Tyr | p.S213Y | O95661 | protein_coding | deleterious(0) | possibly_damaging(0.612) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DIRAS3 | SNV | Missense_Mutation | novel | c.509C>T | p.Ala170Val | p.A170V | O95661 | protein_coding | deleterious(0) | probably_damaging(0.972) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DIRAS3 | SNV | Missense_Mutation | | c.296N>A | p.Arg99His | p.R99H | O95661 | protein_coding | deleterious(0) | probably_damaging(0.915) | TCGA-BG-A0VZ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
DIRAS3 | SNV | Missense_Mutation | novel | c.140G>A | p.Gly47Asp | p.G47D | O95661 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-E6-A2P9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DIRAS3 | SNV | Missense_Mutation | rs575017408 | c.80N>A | p.Arg27His | p.R27H | O95661 | protein_coding | tolerated(0.14) | benign(0.006) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DIRAS3 | SNV | Missense_Mutation | novel | c.559N>G | p.Asn187Asp | p.N187D | O95661 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DIRAS3 | SNV | Missense_Mutation | novel | c.537N>T | p.Glu179Asp | p.E179D | O95661 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
DIRAS3 | SNV | Missense_Mutation | novel | c.320N>T | p.Ala107Val | p.A107V | O95661 | protein_coding | deleterious(0.02) | benign(0.439) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DIRAS3 | SNV | Missense_Mutation | novel | c.307C>T | p.Arg103Cys | p.R103C | O95661 | protein_coding | tolerated(0.05) | possibly_damaging(0.584) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DIRAS3 | deletion | Frame_Shift_Del | novel | c.460delA | p.Ser154ValfsTer10 | p.S154Vfs*10 | O95661 | protein_coding | | | TCGA-BS-A0VI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |