GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00067906 | Esophagus | ESCC | sulfur compound metabolic process | 201/8552 | 339/18723 | 2.64e-07 | 3.94e-06 | 201 |
GO:00442725 | Esophagus | ESCC | sulfur compound biosynthetic process | 96/8552 | 148/18723 | 1.86e-06 | 2.16e-05 | 96 |
GO:00086525 | Esophagus | ESCC | cellular amino acid biosynthetic process | 51/8552 | 76/18723 | 1.30e-04 | 8.88e-04 | 51 |
GO:00463948 | Esophagus | ESCC | carboxylic acid biosynthetic process | 175/8552 | 314/18723 | 1.98e-04 | 1.26e-03 | 175 |
GO:00160538 | Esophagus | ESCC | organic acid biosynthetic process | 175/8552 | 316/18723 | 3.04e-04 | 1.82e-03 | 175 |
GO:19016075 | Esophagus | ESCC | alpha-amino acid biosynthetic process | 45/8552 | 68/18723 | 5.13e-04 | 2.84e-03 | 45 |
GO:00090674 | Esophagus | ESCC | aspartate family amino acid biosynthetic process | 17/8552 | 21/18723 | 1.03e-03 | 5.19e-03 | 17 |
GO:00090862 | Esophagus | ESCC | methionine biosynthetic process | 10/8552 | 12/18723 | 8.94e-03 | 3.12e-02 | 10 |
GO:00430941 | Esophagus | ESCC | cellular metabolic compound salvage | 18/8552 | 26/18723 | 1.32e-02 | 4.31e-02 | 18 |
GO:001605321 | Liver | HCC | organic acid biosynthetic process | 200/7958 | 316/18723 | 5.24e-14 | 3.22e-12 | 200 |
GO:000679021 | Liver | HCC | sulfur compound metabolic process | 212/7958 | 339/18723 | 5.60e-14 | 3.39e-12 | 212 |
GO:004639421 | Liver | HCC | carboxylic acid biosynthetic process | 198/7958 | 314/18723 | 1.19e-13 | 6.78e-12 | 198 |
GO:00086522 | Liver | HCC | cellular amino acid biosynthetic process | 58/7958 | 76/18723 | 1.98e-09 | 5.63e-08 | 58 |
GO:19016052 | Liver | HCC | alpha-amino acid metabolic process | 124/7958 | 195/18723 | 2.07e-09 | 5.79e-08 | 124 |
GO:19016072 | Liver | HCC | alpha-amino acid biosynthetic process | 53/7958 | 68/18723 | 2.62e-09 | 7.16e-08 | 53 |
GO:00065202 | Liver | HCC | cellular amino acid metabolic process | 167/7958 | 284/18723 | 1.91e-08 | 4.56e-07 | 167 |
GO:00442722 | Liver | HCC | sulfur compound biosynthetic process | 95/7958 | 148/18723 | 7.89e-08 | 1.58e-06 | 95 |
GO:00000962 | Liver | HCC | sulfur amino acid metabolic process | 29/7958 | 34/18723 | 3.26e-07 | 5.62e-06 | 29 |
GO:00090672 | Liver | HCC | aspartate family amino acid biosynthetic process | 19/7958 | 21/18723 | 6.44e-06 | 7.84e-05 | 19 |
GO:00090861 | Liver | HCC | methionine biosynthetic process | 12/7958 | 12/18723 | 3.46e-05 | 3.45e-04 | 12 |
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 |
MRI1 | SNV | Missense_Mutation | | c.1039N>A | p.Glu347Lys | p.E347K | Q9BV20 | protein_coding | tolerated(0.73) | benign(0.001) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
MRI1 | SNV | Missense_Mutation | | c.547N>T | p.Gly183Cys | p.G183C | Q9BV20 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MRI1 | SNV | Missense_Mutation | novel | c.882G>C | p.Glu294Asp | p.E294D | Q9BV20 | protein_coding | tolerated(0.98) | benign(0.003) | TCGA-E9-A226-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | tamoxiphen | PD |
MRI1 | deletion | Frame_Shift_Del | rs751646149 | c.988delC | p.His330ThrfsTer24 | p.H330Tfs*24 | Q9BV20 | protein_coding | | | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MRI1 | insertion | Nonsense_Mutation | novel | c.1004_1005insCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTT | p.Gly335_Gly336insThrLeuGlyGlyArgGlyGlyGlnIleThrTerGlyArgGluPhe | p.G335_G336insTLGGRGGQIT*GREF | Q9BV20 | protein_coding | | | TCGA-BH-A0B1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | adriamycin | SD |
MRI1 | SNV | Missense_Mutation | novel | c.1099N>T | p.Pro367Ser | p.P367S | Q9BV20 | protein_coding | tolerated_low_confidence(0.17) | benign(0.005) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
MRI1 | deletion | Frame_Shift_Del | rs751646149 | c.988delC | p.His330ThrfsTer24 | p.H330Tfs*24 | Q9BV20 | protein_coding | | | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
MRI1 | deletion | Frame_Shift_Del | rs751646149 | c.983delN | p.His330ThrfsTer24 | p.H330Tfs*24 | Q9BV20 | protein_coding | | | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
MRI1 | deletion | Frame_Shift_Del | rs751646149 | c.983delN | p.His330ThrfsTer24 | p.H330Tfs*24 | Q9BV20 | protein_coding | | | TCGA-A6-6781-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | SD |
MRI1 | deletion | Frame_Shift_Del | rs751646149 | c.983delN | p.His330ThrfsTer24 | p.H330Tfs*24 | Q9BV20 | protein_coding | | | TCGA-AA-3815-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |