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.408N>T | p.Lys136Asn | p.K136N | O95661 | protein_coding | deleterious(0.03) | possibly_damaging(0.484) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DIRAS3 | SNV | Missense_Mutation | rs779782596 | c.613G>A | p.Gly205Ser | p.G205S | O95661 | protein_coding | tolerated(1) | benign(0) | TCGA-AJ-A3BH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
DIRAS3 | SNV | Missense_Mutation | | c.322C>T | p.Arg108Trp | p.R108W | O95661 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DIRAS3 | SNV | Missense_Mutation | | c.386N>T | p.Ala129Val | p.A129V | O95661 | protein_coding | deleterious(0) | benign(0.139) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DIRAS3 | SNV | Missense_Mutation | novel | c.390N>A | p.Phe130Leu | p.F130L | O95661 | protein_coding | tolerated(0.81) | benign(0.01) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DIRAS3 | SNV | Missense_Mutation | novel | c.67N>A | p.Leu23Met | p.L23M | O95661 | protein_coding | tolerated(0.12) | benign(0.003) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
DIRAS3 | SNV | Missense_Mutation | novel | c.187C>T | p.Arg63Cys | p.R63C | O95661 | protein_coding | deleterious(0.04) | possibly_damaging(0.581) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
DIRAS3 | SNV | Missense_Mutation | | c.203N>T | p.Pro68Leu | p.P68L | O95661 | protein_coding | deleterious(0) | possibly_damaging(0.867) | TCGA-AX-A2HJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DIRAS3 | SNV | Missense_Mutation | | c.46C>T | p.Arg16Trp | p.R16W | O95661 | protein_coding | deleterious(0.01) | benign(0.003) | TCGA-AX-A3FT-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DIRAS3 | SNV | Missense_Mutation | rs764877709 | c.289N>A | p.Gly97Ser | p.G97S | O95661 | protein_coding | deleterious(0.02) | benign(0) | TCGA-B5-A0K6-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |