GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0006839110 | Esophagus | ESCC | mitochondrial transport | 187/8552 | 254/18723 | 8.35e-20 | 9.81e-18 | 187 |
GO:00067906 | Esophagus | ESCC | sulfur compound metabolic process | 201/8552 | 339/18723 | 2.64e-07 | 3.94e-06 | 201 |
GO:1990542110 | Esophagus | ESCC | mitochondrial transmembrane transport | 72/8552 | 102/18723 | 2.94e-07 | 4.23e-06 | 72 |
GO:200037718 | Esophagus | ESCC | regulation of reactive oxygen species metabolic process | 100/8552 | 157/18723 | 3.87e-06 | 4.17e-05 | 100 |
GO:005507617 | Esophagus | ESCC | transition metal ion homeostasis | 87/8552 | 138/18723 | 2.85e-05 | 2.37e-04 | 87 |
GO:007259318 | Esophagus | ESCC | reactive oxygen species metabolic process | 137/8552 | 239/18723 | 1.82e-04 | 1.16e-03 | 137 |
GO:001622611 | Esophagus | ESCC | iron-sulfur cluster assembly | 21/8552 | 26/18723 | 2.69e-04 | 1.63e-03 | 21 |
GO:003116311 | Esophagus | ESCC | metallo-sulfur cluster assembly | 21/8552 | 26/18723 | 2.69e-04 | 1.63e-03 | 21 |
GO:00469169 | Esophagus | ESCC | cellular transition metal ion homeostasis | 70/8552 | 115/18723 | 7.28e-04 | 3.79e-03 | 70 |
GO:00067791 | Esophagus | ESCC | porphyrin-containing compound biosynthetic process | 23/8552 | 31/18723 | 1.20e-03 | 5.88e-03 | 23 |
GO:00330141 | Esophagus | ESCC | tetrapyrrole biosynthetic process | 23/8552 | 31/18723 | 1.20e-03 | 5.88e-03 | 23 |
GO:00461482 | Esophagus | ESCC | pigment biosynthetic process | 40/8552 | 62/18723 | 2.14e-03 | 9.54e-03 | 40 |
GO:00067832 | Esophagus | ESCC | heme biosynthetic process | 20/8552 | 27/18723 | 2.61e-03 | 1.11e-02 | 20 |
GO:00550729 | Esophagus | ESCC | iron ion homeostasis | 52/8552 | 85/18723 | 2.86e-03 | 1.21e-02 | 52 |
GO:20003783 | Esophagus | ESCC | negative regulation of reactive oxygen species metabolic process | 34/8552 | 52/18723 | 3.26e-03 | 1.35e-02 | 34 |
GO:00330132 | Esophagus | ESCC | tetrapyrrole metabolic process | 37/8552 | 59/18723 | 6.23e-03 | 2.29e-02 | 37 |
GO:00424401 | Esophagus | ESCC | pigment metabolic process | 50/8552 | 84/18723 | 7.34e-03 | 2.64e-02 | 50 |
GO:00421681 | Esophagus | ESCC | heme metabolic process | 27/8552 | 42/18723 | 1.16e-02 | 3.90e-02 | 27 |
GO:00068397 | Liver | Cirrhotic | mitochondrial transport | 112/4634 | 254/18723 | 1.03e-11 | 6.66e-10 | 112 |
GO:000679011 | Liver | Cirrhotic | sulfur compound metabolic process | 129/4634 | 339/18723 | 3.06e-08 | 1.04e-06 | 129 |
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 |
ABCB7 | SNV | Missense_Mutation | | c.392N>A | p.Pro131His | p.P131H | O75027 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
ABCB7 | SNV | Missense_Mutation | | c.1395N>T | p.Gln465His | p.Q465H | O75027 | protein_coding | tolerated(0.22) | benign(0.001) | TCGA-AR-A24H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
ABCB7 | SNV | Missense_Mutation | | c.560N>T | p.Ala187Val | p.A187V | O75027 | protein_coding | tolerated(0.56) | benign(0.049) | TCGA-BH-A0DL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
ABCB7 | SNV | Missense_Mutation | | c.487N>G | p.Lys163Glu | p.K163E | O75027 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-BH-A0HA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ABCB7 | SNV | Missense_Mutation | | c.2144N>G | p.Asn715Ser | p.N715S | O75027 | protein_coding | tolerated(0.35) | benign(0.003) | TCGA-BH-A204-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ABCB7 | SNV | Missense_Mutation | novel | c.462G>A | p.Met154Ile | p.M154I | O75027 | protein_coding | tolerated(0.1) | benign(0.061) | TCGA-OL-A66J-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ABCB7 | insertion | Frame_Shift_Ins | novel | c.1758_1759insTTATATTTGA | p.Gly587LeufsTer7 | p.G587Lfs*7 | O75027 | protein_coding | | | TCGA-A2-A04Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
ABCB7 | insertion | Nonsense_Mutation | novel | c.1756_1757insATCATTAGAAGATGTTTTCAGTACTTGAGACCT | p.Ala586delinsAspHisTerLysMetPheSerValLeuGluThrSer | p.A586delinsDH*KMFSVLETS | O75027 | protein_coding | | | TCGA-A2-A04Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
ABCB7 | insertion | Nonsense_Mutation | novel | c.1381_1382insATTAGATAATCT | p.Ala461delinsAspTerIleIleSer | p.A461delinsD*IIS | O75027 | protein_coding | | | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
ABCB7 | insertion | In_Frame_Ins | novel | c.1379_1380insCGTATCATTTAAATT | p.Met460delinsIleValSerPheLysLeu | p.M460delinsIVSFKL | O75027 | protein_coding | | | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |