GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00434143 | Esophagus | ESCC | macromolecule methylation | 199/8552 | 316/18723 | 3.44e-10 | 9.57e-09 | 199 |
GO:00322592 | Esophagus | ESCC | methylation | 222/8552 | 364/18723 | 2.26e-09 | 5.09e-08 | 222 |
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:00065757 | Esophagus | ESCC | cellular modified amino acid metabolic process | 112/8552 | 188/18723 | 8.31e-05 | 6.06e-04 | 112 |
GO:00086525 | Esophagus | ESCC | cellular amino acid biosynthetic process | 51/8552 | 76/18723 | 1.30e-04 | 8.88e-04 | 51 |
GO:00067671 | Esophagus | ESCC | water-soluble vitamin metabolic process | 41/8552 | 59/18723 | 1.84e-04 | 1.17e-03 | 41 |
GO:00463948 | Esophagus | ESCC | carboxylic acid biosynthetic process | 175/8552 | 314/18723 | 1.98e-04 | 1.26e-03 | 175 |
GO:00067661 | Esophagus | ESCC | vitamin metabolic process | 67/8552 | 106/18723 | 2.03e-04 | 1.28e-03 | 67 |
GO:00160538 | Esophagus | ESCC | organic acid biosynthetic process | 175/8552 | 316/18723 | 3.04e-04 | 1.82e-03 | 175 |
GO:00425584 | Esophagus | ESCC | pteridine-containing compound metabolic process | 25/8552 | 33/18723 | 4.30e-04 | 2.43e-03 | 25 |
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:00442827 | Esophagus | ESCC | small molecule catabolic process | 201/8552 | 376/18723 | 1.35e-03 | 6.41e-03 | 201 |
GO:00436485 | Esophagus | ESCC | dicarboxylic acid metabolic process | 58/8552 | 96/18723 | 2.55e-03 | 1.09e-02 | 58 |
GO:00067602 | Esophagus | ESCC | folic acid-containing compound metabolic process | 19/8552 | 26/18723 | 4.31e-03 | 1.71e-02 | 19 |
GO:00090862 | Esophagus | ESCC | methionine biosynthetic process | 10/8552 | 12/18723 | 8.94e-03 | 3.12e-02 | 10 |
GO:0006304 | Esophagus | ESCC | DNA modification | 68/8552 | 120/18723 | 9.95e-03 | 3.42e-02 | 68 |
GO:00466551 | Esophagus | ESCC | folic acid metabolic process | 11/8552 | 14/18723 | 1.30e-02 | 4.27e-02 | 11 |
GO:001605321 | Liver | HCC | organic acid biosynthetic process | 200/7958 | 316/18723 | 5.24e-14 | 3.22e-12 | 200 |
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 |
MTRR | SNV | Missense_Mutation | rs201557658 | c.773N>T | p.Ser258Leu | p.S258L | Q9UBK8 | protein_coding | deleterious(0) | possibly_damaging(0.827) | TCGA-A7-A0CG-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MTRR | SNV | Missense_Mutation | rs779803224 | c.571N>C | p.Ser191Arg | p.S191R | Q9UBK8 | protein_coding | tolerated(0.27) | benign(0.054) | TCGA-AO-A1KS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
MTRR | SNV | Missense_Mutation | | c.1282N>G | p.Leu428Val | p.L428V | Q9UBK8 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E2-A14Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
MTRR | insertion | Frame_Shift_Ins | novel | c.2001_2002insGCAGCCCCTCAATTTCTTTTTAAGGTGCCTGA | p.Leu668AlafsTer38 | p.L668Afs*38 | Q9UBK8 | protein_coding | | | TCGA-A8-A079-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
MTRR | deletion | Frame_Shift_Del | novel | c.447delN | p.Phe150SerfsTer11 | p.F150Sfs*11 | Q9UBK8 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
MTRR | SNV | Missense_Mutation | novel | c.540T>G | p.His180Gln | p.H180Q | Q9UBK8 | protein_coding | tolerated(0.57) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MTRR | SNV | Missense_Mutation | novel | c.1339G>A | p.Ala447Thr | p.A447T | Q9UBK8 | protein_coding | tolerated(0.2) | benign(0.272) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MTRR | SNV | Missense_Mutation | | c.1978N>T | p.Gly660Cys | p.G660C | Q9UBK8 | protein_coding | tolerated(0.16) | probably_damaging(0.909) | TCGA-DS-A1OC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | gemcitabine | SD |
MTRR | SNV | Missense_Mutation | | c.76N>A | p.Glu26Lys | p.E26K | Q9UBK8 | protein_coding | deleterious(0.04) | benign(0.005) | TCGA-EK-A2RO-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
MTRR | SNV | Missense_Mutation | novel | c.1331N>C | p.Val444Ala | p.V444A | Q9UBK8 | protein_coding | deleterious(0) | possibly_damaging(0.674) | TCGA-AA-3947-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
4552 | MTRR | ENZYME, CLINICALLY ACTIONABLE, DRUGGABLE GENOME | | folic acid | | 22926161 |
4552 | MTRR | ENZYME, CLINICALLY ACTIONABLE, DRUGGABLE GENOME | | VITAMIN B12 | | 12807760 |
4552 | MTRR | ENZYME, CLINICALLY ACTIONABLE, DRUGGABLE GENOME | | methotrexate | METHOTREXATE | 16013960,29743634,15797993,18368069 |
4552 | MTRR | ENZYME, CLINICALLY ACTIONABLE, DRUGGABLE GENOME | | vitamin b-complex, plain | | 22926161 |