GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:009026312 | Lung | AIS | positive regulation of canonical Wnt signaling pathway | 22/1849 | 106/18723 | 5.91e-04 | 9.03e-03 | 22 |
GO:005165612 | Lung | AIS | establishment of organelle localization | 59/1849 | 390/18723 | 6.08e-04 | 9.24e-03 | 59 |
GO:005186511 | Lung | AIS | protein autoubiquitination | 17/1849 | 73/18723 | 6.14e-04 | 9.31e-03 | 17 |
GO:003134511 | Lung | AIS | negative regulation of cell projection organization | 33/1849 | 186/18723 | 6.45e-04 | 9.76e-03 | 33 |
GO:000704112 | Lung | AIS | lysosomal transport | 23/1849 | 114/18723 | 6.82e-04 | 1.02e-02 | 23 |
GO:190121413 | Lung | AIS | regulation of neuron death | 50/1849 | 319/18723 | 6.90e-04 | 1.02e-02 | 50 |
GO:003497613 | Lung | AIS | response to endoplasmic reticulum stress | 42/1849 | 256/18723 | 7.09e-04 | 1.04e-02 | 42 |
GO:005080811 | Lung | AIS | synapse organization | 63/1849 | 426/18723 | 7.39e-04 | 1.07e-02 | 63 |
GO:007149613 | Lung | AIS | cellular response to external stimulus | 50/1849 | 320/18723 | 7.41e-04 | 1.07e-02 | 50 |
GO:003238612 | Lung | AIS | regulation of intracellular transport | 52/1849 | 337/18723 | 7.89e-04 | 1.11e-02 | 52 |
GO:004339313 | Lung | AIS | regulation of protein binding | 34/1849 | 196/18723 | 8.16e-04 | 1.14e-02 | 34 |
GO:003647313 | Lung | AIS | cell death in response to oxidative stress | 20/1849 | 95/18723 | 8.52e-04 | 1.17e-02 | 20 |
GO:000660513 | Lung | AIS | protein targeting | 49/1849 | 314/18723 | 8.56e-04 | 1.17e-02 | 49 |
GO:00987321 | Lung | AIS | macromolecule deacylation | 23/1849 | 116/18723 | 8.77e-04 | 1.19e-02 | 23 |
GO:000616313 | Lung | AIS | purine nucleotide metabolic process | 59/1849 | 396/18723 | 8.91e-04 | 1.20e-02 | 59 |
GO:001969313 | Lung | AIS | ribose phosphate metabolic process | 59/1849 | 396/18723 | 8.91e-04 | 1.20e-02 | 59 |
GO:001623612 | Lung | AIS | macroautophagy | 46/1849 | 291/18723 | 9.21e-04 | 1.23e-02 | 46 |
GO:007005913 | Lung | AIS | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 15/1849 | 63/18723 | 9.87e-04 | 1.29e-02 | 15 |
GO:001619712 | Lung | AIS | endosomal transport | 38/1849 | 230/18723 | 1.08e-03 | 1.41e-02 | 38 |
GO:007252113 | Lung | AIS | purine-containing compound metabolic process | 61/1849 | 416/18723 | 1.10e-03 | 1.42e-02 | 61 |
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 | rs200688492 | c.25N>G | p.Cys9Gly | p.C9G | Q5S007 | protein_coding | tolerated_low_confidence(0.08) | benign(0.007) | TCGA-A2-A0SW-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | arimidex | PD |
LRRK2 | SNV | Missense_Mutation | novel | c.1307N>A | p.Leu436Gln | p.L436Q | Q5S007 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AC-A23G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR |
LRRK2 | SNV | Missense_Mutation | | c.7522N>C | p.Glu2508Gln | p.E2508Q | Q5S007 | protein_coding | tolerated(0.53) | benign(0.012) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
LRRK2 | SNV | Missense_Mutation | novel | c.3266N>G | p.Asn1089Ser | p.N1089S | Q5S007 | protein_coding | tolerated(0.12) | possibly_damaging(0.71) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LRRK2 | SNV | Missense_Mutation | novel | c.4469N>T | p.Ala1490Val | p.A1490V | Q5S007 | protein_coding | tolerated(0.18) | possibly_damaging(0.602) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LRRK2 | SNV | Missense_Mutation | | c.5072N>C | p.Ile1691Thr | p.I1691T | Q5S007 | protein_coding | deleterious(0.04) | benign(0.215) | TCGA-AN-A0XO-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
LRRK2 | SNV | Missense_Mutation | | c.5312N>C | p.Arg1771Thr | p.R1771T | Q5S007 | protein_coding | tolerated(0.11) | benign(0.152) | TCGA-AN-A0XU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
LRRK2 | SNV | Missense_Mutation | novel | c.2515N>A | p.Leu839Ile | p.L839I | Q5S007 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-BH-A1FN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
LRRK2 | SNV | Missense_Mutation | novel | c.7367N>C | p.Arg2456Thr | p.R2456T | Q5S007 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BH-A28O-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | CR |
LRRK2 | SNV | Missense_Mutation | novel | c.6322N>A | p.Glu2108Lys | p.E2108K | Q5S007 | protein_coding | deleterious(0.03) | benign(0.27) | TCGA-C8-A3M7-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
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 | |