GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004603912 | Thyroid | ATC | GTP metabolic process | 15/6293 | 25/18723 | 6.08e-03 | 2.44e-02 | 15 |
GO:00903116 | Thyroid | ATC | regulation of protein deacetylation | 25/6293 | 48/18723 | 6.27e-03 | 2.50e-02 | 25 |
GO:00518824 | Thyroid | ATC | mitochondrial depolarization | 14/6293 | 23/18723 | 6.70e-03 | 2.67e-02 | 14 |
GO:200078513 | Thyroid | ATC | regulation of autophagosome assembly | 21/6293 | 39/18723 | 7.26e-03 | 2.86e-02 | 21 |
GO:005105114 | Thyroid | ATC | negative regulation of transport | 183/6293 | 470/18723 | 8.12e-03 | 3.13e-02 | 183 |
GO:190364913 | Thyroid | ATC | regulation of cytoplasmic transport | 16/6293 | 28/18723 | 8.86e-03 | 3.36e-02 | 16 |
GO:00002663 | Thyroid | ATC | mitochondrial fission | 22/6293 | 42/18723 | 9.23e-03 | 3.44e-02 | 22 |
GO:190040725 | Thyroid | ATC | regulation of cellular response to oxidative stress | 41/6293 | 89/18723 | 9.71e-03 | 3.56e-02 | 41 |
GO:007124823 | Thyroid | ATC | cellular response to metal ion | 82/6293 | 197/18723 | 1.11e-02 | 3.99e-02 | 82 |
GO:005164612 | Thyroid | ATC | mitochondrion localization | 25/6293 | 50/18723 | 1.20e-02 | 4.27e-02 | 25 |
GO:005080712 | Thyroid | ATC | regulation of synapse organization | 87/6293 | 211/18723 | 1.20e-02 | 4.27e-02 | 87 |
GO:0036474 | Thyroid | ATC | cell death in response to hydrogen peroxide | 17/6293 | 31/18723 | 1.21e-02 | 4.27e-02 | 17 |
GO:1902882110 | Thyroid | ATC | regulation of response to oxidative stress | 44/6293 | 98/18723 | 1.30e-02 | 4.55e-02 | 44 |
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 | |