GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00066316 | Liver | NAFLD | fatty acid metabolic process | 92/1882 | 390/18723 | 3.38e-15 | 3.29e-12 | 92 |
GO:00550883 | Liver | NAFLD | lipid homeostasis | 44/1882 | 167/18723 | 1.48e-09 | 2.54e-07 | 44 |
GO:00066413 | Liver | NAFLD | triglyceride metabolic process | 29/1882 | 100/18723 | 9.51e-08 | 7.62e-06 | 29 |
GO:00092596 | Liver | NAFLD | ribonucleotide metabolic process | 72/1882 | 385/18723 | 1.51e-07 | 1.09e-05 | 72 |
GO:00196936 | Liver | NAFLD | ribose phosphate metabolic process | 73/1882 | 396/18723 | 2.23e-07 | 1.53e-05 | 73 |
GO:00091177 | Liver | NAFLD | nucleotide metabolic process | 85/1882 | 489/18723 | 3.31e-07 | 2.18e-05 | 85 |
GO:00067537 | Liver | NAFLD | nucleoside phosphate metabolic process | 85/1882 | 497/18723 | 6.69e-07 | 3.83e-05 | 85 |
GO:00725217 | Liver | NAFLD | purine-containing compound metabolic process | 74/1882 | 416/18723 | 7.73e-07 | 4.27e-05 | 74 |
GO:00066392 | Liver | NAFLD | acylglycerol metabolic process | 32/1882 | 128/18723 | 8.82e-07 | 4.60e-05 | 32 |
GO:00066382 | Liver | NAFLD | neutral lipid metabolic process | 32/1882 | 129/18723 | 1.06e-06 | 5.35e-05 | 32 |
GO:00091507 | Liver | NAFLD | purine ribonucleotide metabolic process | 67/1882 | 368/18723 | 1.10e-06 | 5.44e-05 | 67 |
GO:00061637 | Liver | NAFLD | purine nucleotide metabolic process | 70/1882 | 396/18723 | 1.93e-06 | 8.23e-05 | 70 |
GO:00464863 | Liver | NAFLD | glycerolipid metabolic process | 66/1882 | 392/18723 | 1.94e-05 | 5.52e-04 | 66 |
GO:00067904 | Liver | NAFLD | sulfur compound metabolic process | 58/1882 | 339/18723 | 3.79e-05 | 9.38e-04 | 58 |
GO:00338653 | Liver | NAFLD | nucleoside bisphosphate metabolic process | 28/1882 | 128/18723 | 5.89e-05 | 1.30e-03 | 28 |
GO:00338753 | Liver | NAFLD | ribonucleoside bisphosphate metabolic process | 28/1882 | 128/18723 | 5.89e-05 | 1.30e-03 | 28 |
GO:00340323 | Liver | NAFLD | purine nucleoside bisphosphate metabolic process | 28/1882 | 128/18723 | 5.89e-05 | 1.30e-03 | 28 |
GO:00097437 | Liver | NAFLD | response to carbohydrate | 45/1882 | 253/18723 | 1.07e-04 | 2.11e-03 | 45 |
GO:00194322 | Liver | NAFLD | triglyceride biosynthetic process | 13/1882 | 42/18723 | 1.60e-04 | 2.94e-03 | 13 |
GO:00352643 | Liver | NAFLD | multicellular organism growth | 27/1882 | 132/18723 | 2.57e-04 | 4.19e-03 | 27 |
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 |
GPAM | SNV | Missense_Mutation | | c.431N>A | p.Ala144Glu | p.A144E | Q9HCL2 | protein_coding | tolerated(0.69) | benign(0) | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
GPAM | SNV | Missense_Mutation | novel | c.2449N>C | p.Lys817Gln | p.K817Q | Q9HCL2 | protein_coding | deleterious(0.03) | benign(0.444) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GPAM | SNV | Missense_Mutation | novel | c.2105N>A | p.Arg702Gln | p.R702Q | Q9HCL2 | protein_coding | tolerated(0.18) | probably_damaging(0.968) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GPAM | SNV | Missense_Mutation | novel | c.2185C>G | p.Leu729Val | p.L729V | Q9HCL2 | protein_coding | tolerated(0.16) | probably_damaging(0.987) | TCGA-AR-A0TQ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
GPAM | SNV | Missense_Mutation | | c.2234N>A | p.Pro745His | p.P745H | Q9HCL2 | protein_coding | deleterious(0.01) | possibly_damaging(0.641) | TCGA-BH-A0C0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
GPAM | SNV | Missense_Mutation | rs776876225 | c.562C>A | p.Leu188Met | p.L188M | Q9HCL2 | protein_coding | deleterious(0.02) | probably_damaging(0.996) | TCGA-E2-A15I-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
GPAM | SNV | Missense_Mutation | novel | c.2201N>G | p.Ser734Cys | p.S734C | Q9HCL2 | protein_coding | deleterious(0.04) | benign(0.443) | TCGA-E2-A2P6-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
GPAM | insertion | Frame_Shift_Ins | novel | c.342_343insCAGACTGACTGGGTGGGTGCTGCTA | p.Ile115GlnfsTer16 | p.I115Qfs*16 | Q9HCL2 | protein_coding | | | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
GPAM | insertion | Frame_Shift_Ins | novel | c.340_341insGT | p.Phe114CysfsTer17 | p.F114Cfs*17 | Q9HCL2 | protein_coding | | | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
GPAM | insertion | In_Frame_Ins | novel | c.2419_2420insCTCTGAAAATGCATGAAAAACAAAGGCAAAAACTAG | p.Ser807delinsThrLeuLysMetHisGluLysGlnArgGlnLysLeuGly | p.S807delinsTLKMHEKQRQKLG | Q9HCL2 | protein_coding | | | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |