Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa050124 | Colorectum | MSS | Parkinson disease | 140/1875 | 266/8465 | 2.32e-28 | 7.79e-26 | 4.77e-26 | 140 |
hsa050224 | Colorectum | MSS | Pathways of neurodegeneration - multiple diseases | 192/1875 | 476/8465 | 2.79e-20 | 1.04e-18 | 6.36e-19 | 192 |
hsa050144 | Colorectum | MSS | Amyotrophic lateral sclerosis | 156/1875 | 364/8465 | 1.43e-19 | 4.62e-18 | 2.83e-18 | 156 |
hsa041414 | Colorectum | MSS | Protein processing in endoplasmic reticulum | 75/1875 | 174/8465 | 3.78e-10 | 8.44e-09 | 5.17e-09 | 75 |
hsa041204 | Colorectum | MSS | Ubiquitin mediated proteolysis | 55/1875 | 142/8465 | 5.02e-06 | 6.00e-05 | 3.68e-05 | 55 |
hsa041374 | Colorectum | MSS | Mitophagy - animal | 27/1875 | 72/8465 | 2.17e-03 | 1.10e-02 | 6.76e-03 | 27 |
hsa050125 | Colorectum | MSS | Parkinson disease | 140/1875 | 266/8465 | 2.32e-28 | 7.79e-26 | 4.77e-26 | 140 |
hsa050225 | Colorectum | MSS | Pathways of neurodegeneration - multiple diseases | 192/1875 | 476/8465 | 2.79e-20 | 1.04e-18 | 6.36e-19 | 192 |
hsa050145 | Colorectum | MSS | Amyotrophic lateral sclerosis | 156/1875 | 364/8465 | 1.43e-19 | 4.62e-18 | 2.83e-18 | 156 |
hsa041415 | Colorectum | MSS | Protein processing in endoplasmic reticulum | 75/1875 | 174/8465 | 3.78e-10 | 8.44e-09 | 5.17e-09 | 75 |
hsa041205 | Colorectum | MSS | Ubiquitin mediated proteolysis | 55/1875 | 142/8465 | 5.02e-06 | 6.00e-05 | 3.68e-05 | 55 |
hsa041375 | Colorectum | MSS | Mitophagy - animal | 27/1875 | 72/8465 | 2.17e-03 | 1.10e-02 | 6.76e-03 | 27 |
hsa050126 | Colorectum | MSI-H | Parkinson disease | 85/797 | 266/8465 | 1.19e-25 | 1.29e-23 | 1.08e-23 | 85 |
hsa050146 | Colorectum | MSI-H | Amyotrophic lateral sclerosis | 95/797 | 364/8465 | 2.31e-21 | 1.50e-19 | 1.26e-19 | 95 |
hsa050226 | Colorectum | MSI-H | Pathways of neurodegeneration - multiple diseases | 107/797 | 476/8465 | 1.24e-18 | 5.72e-17 | 4.80e-17 | 107 |
hsa041416 | Colorectum | MSI-H | Protein processing in endoplasmic reticulum | 46/797 | 174/8465 | 4.53e-11 | 9.78e-10 | 8.19e-10 | 46 |
hsa041376 | Colorectum | MSI-H | Mitophagy - animal | 16/797 | 72/8465 | 8.73e-04 | 1.01e-02 | 8.48e-03 | 16 |
hsa050127 | Colorectum | MSI-H | Parkinson disease | 85/797 | 266/8465 | 1.19e-25 | 1.29e-23 | 1.08e-23 | 85 |
hsa050147 | Colorectum | MSI-H | Amyotrophic lateral sclerosis | 95/797 | 364/8465 | 2.31e-21 | 1.50e-19 | 1.26e-19 | 95 |
hsa050227 | Colorectum | MSI-H | Pathways of neurodegeneration - multiple diseases | 107/797 | 476/8465 | 1.24e-18 | 5.72e-17 | 4.80e-17 | 107 |
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 |
PARK2 | SNV | Missense_Mutation | | c.1183G>A | p.Glu395Lys | p.E395K | O60260 | protein_coding | tolerated(0.52) | benign(0.003) | TCGA-B6-A0I9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
PARK2 | SNV | Missense_Mutation | novel | c.976C>A | p.Gln326Lys | p.Q326K | O60260 | protein_coding | tolerated(0.21) | possibly_damaging(0.472) | TCGA-B6-A0WS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PARK2 | SNV | Missense_Mutation | | c.970N>T | p.Val324Phe | p.V324F | O60260 | protein_coding | deleterious(0) | probably_damaging(0.951) | TCGA-BH-A0DX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
PARK2 | SNV | Missense_Mutation | | c.1205N>C | p.Arg402Pro | p.R402P | O60260 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A18V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PARK2 | SNV | Missense_Mutation | | c.1041N>C | p.Gln347His | p.Q347H | O60260 | protein_coding | tolerated(0.12) | possibly_damaging(0.643) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
PARK2 | insertion | Nonsense_Mutation | novel | c.1257_1258insTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTG | p.Pro419_Arg420insTyrTerLysTyrLysLysLeuAlaGlyCysGlyGlyGlyArgLeu | p.P419_R420insY*KYKKLAGCGGGRL | O60260 | protein_coding | | | TCGA-BH-A0B8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
PARK2 | SNV | Missense_Mutation | rs529808032 | c.1028N>T | p.Pro343Leu | p.P343L | O60260 | protein_coding | deleterious(0.04) | probably_damaging(0.996) | TCGA-C5-A1MF-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PARK2 | SNV | Missense_Mutation | | c.25N>G | p.Ser9Ala | p.S9A | O60260 | protein_coding | tolerated(0.12) | probably_damaging(0.954) | TCGA-EA-A1QT-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PARK2 | SNV | Missense_Mutation | | c.130N>C | p.Ile44Leu | p.I44L | O60260 | protein_coding | tolerated(0.25) | benign(0.085) | TCGA-AA-3710-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PARK2 | SNV | Missense_Mutation | | c.665N>A | p.Thr222Lys | p.T222K | O60260 | protein_coding | tolerated(0.26) | benign(0.046) | TCGA-AA-3815-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |