GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00226048 | Lung | IAC | regulation of cell morphogenesis | 74/2061 | 309/18723 | 6.31e-11 | 1.70e-08 | 74 |
GO:00163586 | Lung | IAC | dendrite development | 55/2061 | 243/18723 | 1.35e-07 | 1.18e-05 | 55 |
GO:00467776 | Lung | IAC | protein autophosphorylation | 51/2061 | 227/18723 | 4.85e-07 | 3.10e-05 | 51 |
GO:00605605 | Lung | IAC | developmental growth involved in morphogenesis | 52/2061 | 234/18723 | 5.39e-07 | 3.32e-05 | 52 |
GO:00160496 | Lung | IAC | cell growth | 89/2061 | 482/18723 | 6.10e-07 | 3.67e-05 | 89 |
GO:00109756 | Lung | IAC | regulation of neuron projection development | 82/2061 | 445/18723 | 1.82e-06 | 8.78e-05 | 82 |
GO:00430876 | Lung | IAC | regulation of GTPase activity | 67/2061 | 348/18723 | 3.43e-06 | 1.44e-04 | 67 |
GO:00485885 | Lung | IAC | developmental cell growth | 49/2061 | 234/18723 | 6.67e-06 | 2.43e-04 | 49 |
GO:00488134 | Lung | IAC | dendrite morphogenesis | 34/2061 | 146/18723 | 1.68e-05 | 4.79e-04 | 34 |
GO:00486755 | Lung | IAC | axon extension | 29/2061 | 120/18723 | 3.29e-05 | 8.29e-04 | 29 |
GO:19901384 | Lung | IAC | neuron projection extension | 37/2061 | 172/18723 | 4.69e-05 | 1.08e-03 | 37 |
GO:00609964 | Lung | IAC | dendritic spine development | 25/2061 | 99/18723 | 5.18e-05 | 1.18e-03 | 25 |
GO:01200327 | Lung | IAC | regulation of plasma membrane bounded cell projection assembly | 39/2061 | 186/18723 | 5.41e-05 | 1.21e-03 | 39 |
GO:00604916 | Lung | IAC | regulation of cell projection assembly | 39/2061 | 188/18723 | 6.92e-05 | 1.47e-03 | 39 |
GO:00313466 | Lung | IAC | positive regulation of cell projection organization | 63/2061 | 353/18723 | 7.37e-05 | 1.55e-03 | 63 |
GO:00457735 | Lung | IAC | positive regulation of axon extension | 14/2061 | 42/18723 | 9.77e-05 | 1.93e-03 | 14 |
GO:00459276 | Lung | IAC | positive regulation of growth | 49/2061 | 259/18723 | 1.06e-04 | 2.05e-03 | 49 |
GO:00615646 | Lung | IAC | axon development | 78/2061 | 467/18723 | 1.12e-04 | 2.15e-03 | 78 |
GO:00486385 | Lung | IAC | regulation of developmental growth | 59/2061 | 330/18723 | 1.17e-04 | 2.22e-03 | 59 |
GO:00074096 | Lung | IAC | axonogenesis | 71/2061 | 418/18723 | 1.33e-04 | 2.48e-03 | 71 |
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 |
CDKL5 | SNV | Missense_Mutation | novel | c.2248N>C | p.Ser750Pro | p.S750P | O76039 | protein_coding | tolerated_low_confidence(0.05) | benign(0.012) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
CDKL5 | SNV | Missense_Mutation | rs776025230 | c.239N>A | p.Arg80His | p.R80H | O76039 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.994) | TCGA-A5-A0G3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | PD |
CDKL5 | SNV | Missense_Mutation | | c.1098N>A | p.Phe366Leu | p.F366L | O76039 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.97) | TCGA-A5-A0GP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CDKL5 | SNV | Missense_Mutation | novel | c.193N>T | p.Arg65Trp | p.R65W | O76039 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.997) | TCGA-A5-A0GR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CDKL5 | SNV | Missense_Mutation | novel | c.2041T>C | p.Ser681Pro | p.S681P | O76039 | protein_coding | deleterious_low_confidence(0.01) | benign(0.368) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CDKL5 | SNV | Missense_Mutation | | c.2668N>T | p.Arg890Trp | p.R890W | O76039 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.936) | TCGA-A5-A2K3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | SD |
CDKL5 | SNV | Missense_Mutation | novel | c.545N>G | p.Leu182Arg | p.L182R | O76039 | protein_coding | deleterious_low_confidence(0) | probably_damaging(1) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CDKL5 | SNV | Missense_Mutation | rs772194937 | c.1072N>A | p.Glu358Lys | p.E358K | O76039 | protein_coding | deleterious_low_confidence(0.04) | benign(0.225) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CDKL5 | SNV | Missense_Mutation | rs199897804 | c.1721C>T | p.Pro574Leu | p.P574L | O76039 | protein_coding | deleterious_low_confidence(0) | benign(0.007) | TCGA-AJ-A2QO-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CDKL5 | SNV | Missense_Mutation | novel | c.228N>T | p.Lys76Asn | p.K76N | O76039 | protein_coding | deleterious_low_confidence(0.02) | probably_damaging(0.984) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |