GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00098968 | Lung | IAC | positive regulation of catabolic process | 114/2061 | 492/18723 | 4.93e-15 | 1.25e-11 | 114 |
GO:00421768 | Lung | IAC | regulation of protein catabolic process | 97/2061 | 391/18723 | 6.32e-15 | 1.25e-11 | 97 |
GO:00313318 | Lung | IAC | positive regulation of cellular catabolic process | 98/2061 | 427/18723 | 7.79e-13 | 9.25e-10 | 98 |
GO:00971938 | Lung | IAC | intrinsic apoptotic signaling pathway | 72/2061 | 288/18723 | 1.36e-11 | 4.83e-09 | 72 |
GO:19033208 | Lung | IAC | regulation of protein modification by small protein conjugation or removal | 64/2061 | 242/18723 | 1.38e-11 | 4.83e-09 | 64 |
GO:00457328 | Lung | IAC | positive regulation of protein catabolic process | 61/2061 | 231/18723 | 4.44e-11 | 1.39e-08 | 61 |
GO:20012338 | Lung | IAC | regulation of apoptotic signaling pathway | 82/2061 | 356/18723 | 4.85e-11 | 1.44e-08 | 82 |
GO:00160556 | Lung | IAC | Wnt signaling pathway | 95/2061 | 444/18723 | 1.13e-10 | 2.80e-08 | 95 |
GO:01987386 | Lung | IAC | cell-cell signaling by wnt | 95/2061 | 446/18723 | 1.46e-10 | 3.48e-08 | 95 |
GO:19033628 | Lung | IAC | regulation of cellular protein catabolic process | 63/2061 | 255/18723 | 4.30e-10 | 9.45e-08 | 63 |
GO:00301116 | Lung | IAC | regulation of Wnt signaling pathway | 74/2061 | 328/18723 | 1.14e-09 | 2.05e-07 | 74 |
GO:00458628 | Lung | IAC | positive regulation of proteolysis | 80/2061 | 372/18723 | 2.62e-09 | 4.21e-07 | 80 |
GO:00313968 | Lung | IAC | regulation of protein ubiquitination | 53/2061 | 210/18723 | 4.65e-09 | 7.07e-07 | 53 |
GO:00165704 | Lung | IAC | histone modification | 93/2061 | 463/18723 | 5.41e-09 | 8.03e-07 | 93 |
GO:00181056 | Lung | IAC | peptidyl-serine phosphorylation | 69/2061 | 315/18723 | 1.48e-08 | 1.87e-06 | 69 |
GO:00310987 | Lung | IAC | stress-activated protein kinase signaling cascade | 57/2061 | 247/18723 | 3.95e-08 | 4.57e-06 | 57 |
GO:00459368 | Lung | IAC | negative regulation of phosphate metabolic process | 87/2061 | 441/18723 | 4.00e-08 | 4.57e-06 | 87 |
GO:00105638 | Lung | IAC | negative regulation of phosphorus metabolic process | 87/2061 | 442/18723 | 4.46e-08 | 4.99e-06 | 87 |
GO:19030508 | Lung | IAC | regulation of proteolysis involved in cellular protein catabolic process | 52/2061 | 221/18723 | 7.90e-08 | 7.95e-06 | 52 |
GO:20000588 | Lung | IAC | regulation of ubiquitin-dependent protein catabolic process | 42/2061 | 164/18723 | 1.16e-07 | 1.07e-05 | 42 |
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 |
LRRK2 | SNV | Missense_Mutation | | c.5132G>A | p.Arg1711Gln | p.R1711Q | Q5S007 | protein_coding | deleterious(0) | probably_damaging(0.967) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
LRRK2 | SNV | Missense_Mutation | novel | c.6572C>A | p.Ser2191Tyr | p.S2191Y | Q5S007 | protein_coding | tolerated(1) | benign(0.003) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
LRRK2 | SNV | Missense_Mutation | novel | c.6283N>T | p.Pro2095Ser | p.P2095S | Q5S007 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LRRK2 | SNV | Missense_Mutation | novel | c.88N>C | p.Lys30Gln | p.K30Q | Q5S007 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.84) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
LRRK2 | SNV | Missense_Mutation | novel | c.166N>A | p.Gln56Lys | p.Q56K | Q5S007 | protein_coding | tolerated(0.13) | benign(0) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
LRRK2 | SNV | Missense_Mutation | novel | c.2188N>A | p.Leu730Ile | p.L730I | Q5S007 | protein_coding | tolerated(0.33) | possibly_damaging(0.882) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
LRRK2 | SNV | Missense_Mutation | rs573327331 | c.3949N>T | p.Asp1317Tyr | p.D1317Y | Q5S007 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
LRRK2 | SNV | Missense_Mutation | novel | c.3964N>A | p.Leu1322Ile | p.L1322I | Q5S007 | protein_coding | deleterious(0) | possibly_damaging(0.49) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
LRRK2 | SNV | Missense_Mutation | novel | c.5737N>C | p.Ser1913Pro | p.S1913P | Q5S007 | protein_coding | tolerated(0.07) | possibly_damaging(0.82) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
LRRK2 | SNV | Missense_Mutation | novel | c.6717N>C | p.Glu2239Asp | p.E2239D | Q5S007 | protein_coding | tolerated(0.1) | benign(0.001) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
120892 | LRRK2 | KINASE, SERINE THREONINE KINASE, ENZYME, DRUGGABLE GENOME, CLINICALLY ACTIONABLE | | AZD-1775 | ADAVOSERTIB | |
120892 | LRRK2 | KINASE, SERINE THREONINE KINASE, ENZYME, DRUGGABLE GENOME, CLINICALLY ACTIONABLE | | Pyridopyrimidinone derivative 2 | | |
120892 | LRRK2 | KINASE, SERINE THREONINE KINASE, ENZYME, DRUGGABLE GENOME, CLINICALLY ACTIONABLE | inhibitor | 384403651 | | |
120892 | LRRK2 | KINASE, SERINE THREONINE KINASE, ENZYME, DRUGGABLE GENOME, CLINICALLY ACTIONABLE | | PMID28117607-Compound-21 | | |
120892 | LRRK2 | KINASE, SERINE THREONINE KINASE, ENZYME, DRUGGABLE GENOME, CLINICALLY ACTIONABLE | | Pyridopyrimidinone derivative 1 | | |
120892 | LRRK2 | KINASE, SERINE THREONINE KINASE, ENZYME, DRUGGABLE GENOME, CLINICALLY ACTIONABLE | | PALBOCICLIB | PALBOCICLIB | |
120892 | LRRK2 | KINASE, SERINE THREONINE KINASE, ENZYME, DRUGGABLE GENOME, CLINICALLY ACTIONABLE | | Aminopyridine derivative 2 | | |
120892 | LRRK2 | KINASE, SERINE THREONINE KINASE, ENZYME, DRUGGABLE GENOME, CLINICALLY ACTIONABLE | inhibitor | 328083498 | | |
120892 | LRRK2 | KINASE, SERINE THREONINE KINASE, ENZYME, DRUGGABLE GENOME, CLINICALLY ACTIONABLE | inhibitor | 328083494 | | |
120892 | LRRK2 | KINASE, SERINE THREONINE KINASE, ENZYME, DRUGGABLE GENOME, CLINICALLY ACTIONABLE | | PHA-767491 | CHEMBL225519 | |