GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00300984 | Esophagus | ESCC | lymphocyte differentiation | 192/8552 | 374/18723 | 1.52e-02 | 4.93e-02 | 192 |
GO:190188810 | Esophagus | ESCC | regulation of cell junction assembly | 109/8552 | 204/18723 | 1.53e-02 | 4.96e-02 | 109 |
GO:190230710 | Esophagus | ESCC | positive regulation of sodium ion transmembrane transport | 15/8552 | 21/18723 | 1.54e-02 | 4.96e-02 | 15 |
GO:00066316 | Liver | NAFLD | fatty acid metabolic process | 92/1882 | 390/18723 | 3.38e-15 | 3.29e-12 | 92 |
GO:00160535 | Liver | NAFLD | organic acid biosynthetic process | 77/1882 | 316/18723 | 1.03e-13 | 6.69e-11 | 77 |
GO:00463945 | Liver | NAFLD | carboxylic acid biosynthetic process | 75/1882 | 314/18723 | 6.37e-13 | 3.39e-10 | 75 |
GO:00481936 | Liver | NAFLD | Golgi vesicle transport | 66/1882 | 296/18723 | 3.66e-10 | 9.30e-08 | 66 |
GO:00082023 | Liver | NAFLD | steroid metabolic process | 69/1882 | 319/18723 | 5.90e-10 | 1.28e-07 | 69 |
GO:00094107 | Liver | NAFLD | response to xenobiotic stimulus | 88/1882 | 462/18723 | 2.53e-09 | 4.11e-07 | 88 |
GO:00068925 | Liver | NAFLD | post-Golgi vesicle-mediated transport | 31/1882 | 104/18723 | 1.70e-08 | 2.03e-06 | 31 |
GO:00723303 | Liver | NAFLD | monocarboxylic acid biosynthetic process | 46/1882 | 214/18723 | 5.06e-07 | 3.07e-05 | 46 |
GO:00068984 | Liver | NAFLD | receptor-mediated endocytosis | 49/1882 | 244/18723 | 1.80e-06 | 7.78e-05 | 49 |
GO:00068934 | Liver | NAFLD | Golgi to plasma membrane transport | 19/1882 | 60/18723 | 3.60e-06 | 1.42e-04 | 19 |
GO:0008203 | Liver | NAFLD | cholesterol metabolic process | 32/1882 | 137/18723 | 4.28e-06 | 1.66e-04 | 32 |
GO:0016125 | Liver | NAFLD | sterol metabolic process | 34/1882 | 152/18723 | 6.02e-06 | 2.11e-04 | 34 |
GO:1902652 | Liver | NAFLD | secondary alcohol metabolic process | 33/1882 | 147/18723 | 7.57e-06 | 2.56e-04 | 33 |
GO:00060666 | Liver | NAFLD | alcohol metabolic process | 62/1882 | 353/18723 | 9.01e-06 | 2.96e-04 | 62 |
GO:00988765 | Liver | NAFLD | vesicle-mediated transport to the plasma membrane | 30/1882 | 136/18723 | 2.76e-05 | 7.39e-04 | 30 |
GO:0019627 | Liver | NAFLD | urea metabolic process | 7/1882 | 12/18723 | 5.15e-05 | 1.19e-03 | 7 |
GO:0071941 | Liver | NAFLD | nitrogen cycle metabolic process | 7/1882 | 12/18723 | 5.15e-05 | 1.19e-03 | 7 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05020 | Colorectum | AD | Prion disease | 133/2092 | 273/8465 | 2.47e-18 | 8.29e-17 | 5.29e-17 | 133 |
hsa05171 | Colorectum | AD | Coronavirus disease - COVID-19 | 113/2092 | 232/8465 | 9.90e-16 | 2.55e-14 | 1.63e-14 | 113 |
hsa04810 | Colorectum | AD | Regulation of actin cytoskeleton | 75/2092 | 229/8465 | 3.36e-03 | 1.76e-02 | 1.12e-02 | 75 |
hsa050201 | Colorectum | AD | Prion disease | 133/2092 | 273/8465 | 2.47e-18 | 8.29e-17 | 5.29e-17 | 133 |
hsa051711 | Colorectum | AD | Coronavirus disease - COVID-19 | 113/2092 | 232/8465 | 9.90e-16 | 2.55e-14 | 1.63e-14 | 113 |
hsa048101 | Colorectum | AD | Regulation of actin cytoskeleton | 75/2092 | 229/8465 | 3.36e-03 | 1.76e-02 | 1.12e-02 | 75 |
hsa050202 | Colorectum | SER | Prion disease | 119/1580 | 273/8465 | 4.61e-22 | 3.06e-20 | 2.22e-20 | 119 |
hsa048102 | Colorectum | SER | Regulation of actin cytoskeleton | 60/1580 | 229/8465 | 2.74e-03 | 2.02e-02 | 1.47e-02 | 60 |
hsa050203 | Colorectum | SER | Prion disease | 119/1580 | 273/8465 | 4.61e-22 | 3.06e-20 | 2.22e-20 | 119 |
hsa048103 | Colorectum | SER | Regulation of actin cytoskeleton | 60/1580 | 229/8465 | 2.74e-03 | 2.02e-02 | 1.47e-02 | 60 |
hsa050204 | Colorectum | MSS | Prion disease | 129/1875 | 273/8465 | 1.04e-20 | 5.00e-19 | 3.06e-19 | 129 |
hsa051714 | Colorectum | MSS | Coronavirus disease - COVID-19 | 108/1875 | 232/8465 | 6.50e-17 | 1.67e-15 | 1.03e-15 | 108 |
hsa048104 | Colorectum | MSS | Regulation of actin cytoskeleton | 68/1875 | 229/8465 | 4.27e-03 | 1.86e-02 | 1.14e-02 | 68 |
hsa050205 | Colorectum | MSS | Prion disease | 129/1875 | 273/8465 | 1.04e-20 | 5.00e-19 | 3.06e-19 | 129 |
hsa051715 | Colorectum | MSS | Coronavirus disease - COVID-19 | 108/1875 | 232/8465 | 6.50e-17 | 1.67e-15 | 1.03e-15 | 108 |
hsa048105 | Colorectum | MSS | Regulation of actin cytoskeleton | 68/1875 | 229/8465 | 4.27e-03 | 1.86e-02 | 1.14e-02 | 68 |
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 |
C9 | SNV | Missense_Mutation | | c.706N>C | p.Asn236His | p.N236H | P02748 | protein_coding | deleterious(0.03) | benign(0.005) | TCGA-A2-A0EW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
C9 | SNV | Missense_Mutation | novel | c.1150N>A | p.His384Asn | p.H384N | P02748 | protein_coding | tolerated(1) | benign(0) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
C9 | SNV | Missense_Mutation | novel | c.1483N>C | p.Glu495Gln | p.E495Q | P02748 | protein_coding | deleterious(0.03) | probably_damaging(0.989) | TCGA-BH-A0B0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
C9 | SNV | Missense_Mutation | | c.1280C>T | p.Ser427Leu | p.S427L | P02748 | protein_coding | deleterious(0.02) | possibly_damaging(0.879) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
C9 | SNV | Missense_Mutation | | c.163N>T | p.Asp55Tyr | p.D55Y | P02748 | protein_coding | deleterious(0.02) | probably_damaging(0.996) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
C9 | insertion | Frame_Shift_Ins | novel | c.6_7insT | p.Ala3CysfsTer26 | p.A3Cfs*26 | P02748 | protein_coding | | | TCGA-A2-A04V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | PD |
C9 | insertion | In_Frame_Ins | novel | c.5_6insCTGGGACTACCATAACAAAGCACCACAAGCTGG | p.Ser2_Ala3insTrpAspTyrHisAsnLysAlaProGlnAlaGly | p.S2_A3insWDYHNKAPQAG | P02748 | protein_coding | | | TCGA-A2-A04V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | PD |
C9 | deletion | Frame_Shift_Del | | c.1481delN | p.Leu494TrpfsTer14 | p.L494Wfs*14 | P02748 | protein_coding | | | TCGA-AO-A03V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
C9 | insertion | Nonsense_Mutation | novel | c.122_123insGTGAGGATGCTGAGGATGACTGCGGAA | p.Ile41delinsMetTerGlyCysTerGlyTerLeuArgLys | p.I41delinsM*GC*G*LRK | P02748 | protein_coding | | | TCGA-BH-A0HK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
C9 | SNV | Missense_Mutation | novel | c.1294G>A | p.Gly432Arg | p.G432R | P02748 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-C5-A8XI-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | SD |