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 | | c.660G>T | p.Glu220Asp | p.E220D | O95661 | protein_coding | tolerated(0.25) | benign(0.042) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DIRAS3 | insertion | In_Frame_Ins | novel | c.304_305insGTGTAG | p.Gln102delinsArgValGlu | p.Q102delinsRVE | O95661 | protein_coding | | | TCGA-AN-A0FS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DIRAS3 | insertion | Nonsense_Mutation | novel | c.302_303insTCCTATCCTGTA | p.Leu101_Gln102insProIleLeuTer | p.L101_Q102insPIL* | O95661 | protein_coding | | | TCGA-AN-A0FS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DIRAS3 | deletion | Frame_Shift_Del | novel | c.602delA | p.Lys201SerfsTer27 | p.K201Sfs*27 | O95661 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
DIRAS3 | SNV | Missense_Mutation | | c.628N>C | p.Glu210Gln | p.E210Q | O95661 | protein_coding | tolerated(0.74) | benign(0.024) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
DIRAS3 | SNV | Missense_Mutation | | c.542N>T | p.Ser181Leu | p.S181L | O95661 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
DIRAS3 | SNV | Missense_Mutation | | c.136G>A | p.Ala46Thr | p.A46T | O95661 | protein_coding | deleterious(0.02) | possibly_damaging(0.85) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
DIRAS3 | SNV | Missense_Mutation | | c.331N>A | p.Ala111Thr | p.A111T | O95661 | protein_coding | deleterious(0) | probably_damaging(0.954) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
DIRAS3 | SNV | Missense_Mutation | novel | c.64N>A | p.Ala22Thr | p.A22T | O95661 | protein_coding | tolerated(1) | benign(0.003) | TCGA-G4-6297-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | fluorouracil | PD |
DIRAS3 | SNV | Missense_Mutation | novel | c.630N>T | p.Glu210Asp | p.E210D | O95661 | protein_coding | tolerated(0.44) | benign(0.013) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |