GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:006099712 | Thyroid | ATC | dendritic spine morphogenesis | 33/6293 | 61/18723 | 7.76e-04 | 4.28e-03 | 33 |
GO:004586134 | Thyroid | ATC | negative regulation of proteolysis | 146/6293 | 351/18723 | 9.84e-04 | 5.22e-03 | 146 |
GO:000181924 | Thyroid | ATC | positive regulation of cytokine production | 189/6293 | 467/18723 | 1.00e-03 | 5.31e-03 | 189 |
GO:007124124 | Thyroid | ATC | cellular response to inorganic substance | 98/6293 | 226/18723 | 1.35e-03 | 7.02e-03 | 98 |
GO:190495013 | Thyroid | ATC | negative regulation of establishment of protein localization | 61/6293 | 131/18723 | 1.38e-03 | 7.16e-03 | 61 |
GO:000725424 | Thyroid | ATC | JNK cascade | 75/6293 | 167/18723 | 1.51e-03 | 7.68e-03 | 75 |
GO:005134629 | Thyroid | ATC | negative regulation of hydrolase activity | 155/6293 | 379/18723 | 1.64e-03 | 8.23e-03 | 155 |
GO:005122413 | Thyroid | ATC | negative regulation of protein transport | 59/6293 | 127/18723 | 1.75e-03 | 8.71e-03 | 59 |
GO:00349821 | Thyroid | ATC | mitochondrial protein processing | 10/6293 | 13/18723 | 1.77e-03 | 8.71e-03 | 10 |
GO:009031211 | Thyroid | ATC | positive regulation of protein deacetylation | 16/6293 | 25/18723 | 1.81e-03 | 8.90e-03 | 16 |
GO:009917512 | Thyroid | ATC | regulation of postsynapse organization | 44/6293 | 90/18723 | 1.89e-03 | 9.27e-03 | 44 |
GO:006062811 | Thyroid | ATC | regulation of ER to Golgi vesicle-mediated transport | 11/6293 | 15/18723 | 1.94e-03 | 9.41e-03 | 11 |
GO:001624212 | Thyroid | ATC | negative regulation of macroautophagy | 20/6293 | 34/18723 | 2.22e-03 | 1.04e-02 | 20 |
GO:00901401 | Thyroid | ATC | regulation of mitochondrial fission | 19/6293 | 32/18723 | 2.46e-03 | 1.14e-02 | 19 |
GO:00508483 | Thyroid | ATC | regulation of calcium-mediated signaling | 36/6293 | 73/18723 | 3.91e-03 | 1.70e-02 | 36 |
GO:00327608 | Thyroid | ATC | positive regulation of tumor necrosis factor production | 48/6293 | 103/18723 | 4.14e-03 | 1.76e-02 | 48 |
GO:190320125 | Thyroid | ATC | regulation of oxidative stress-induced cell death | 36/6293 | 74/18723 | 5.19e-03 | 2.12e-02 | 36 |
GO:006068813 | Thyroid | ATC | regulation of morphogenesis of a branching structure | 26/6293 | 50/18723 | 5.51e-03 | 2.24e-02 | 26 |
GO:004340611 | Thyroid | ATC | positive regulation of MAP kinase activity | 51/6293 | 112/18723 | 5.68e-03 | 2.30e-02 | 51 |
GO:19035576 | Thyroid | ATC | positive regulation of tumor necrosis factor superfamily cytokine production | 49/6293 | 107/18723 | 5.79e-03 | 2.34e-02 | 49 |
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 | |