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 | | c.176N>A | p.Arg59Gln | p.R59Q | O76039 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.998) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CDKL5 | SNV | Missense_Mutation | novel | c.1588N>G | p.Pro530Ala | p.P530A | O76039 | protein_coding | deleterious_low_confidence(0.01) | benign(0.359) | TCGA-D1-A2G0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CDKL5 | SNV | Missense_Mutation | novel | c.572N>T | p.Ser191Phe | p.S191F | O76039 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.596) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
CDKL5 | SNV | Missense_Mutation | novel | c.2695N>T | p.Pro899Ser | p.P899S | O76039 | protein_coding | tolerated_low_confidence(0.15) | benign(0.003) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
CDKL5 | SNV | Missense_Mutation | novel | c.2369N>T | p.Ser790Phe | p.S790F | O76039 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.48) | TCGA-DF-A2KZ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CDKL5 | SNV | Missense_Mutation | novel | c.2102N>A | p.Arg701Lys | p.R701K | O76039 | protein_coding | tolerated_low_confidence(0.06) | probably_damaging(0.97) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
CDKL5 | SNV | Missense_Mutation | novel | c.472N>T | p.Arg158Cys | p.R158C | O76039 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.999) | TCGA-E6-A1M0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
CDKL5 | SNV | Missense_Mutation | | c.1988C>T | p.Ser663Leu | p.S663L | O76039 | protein_coding | tolerated_low_confidence(0.3) | benign(0) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CDKL5 | SNV | Missense_Mutation | novel | c.416A>G | p.Glu139Gly | p.E139G | O76039 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.977) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CDKL5 | SNV | Missense_Mutation | novel | c.740T>C | p.Leu247Pro | p.L247P | O76039 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.972) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |