GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0006091110 | Esophagus | ESCC | generation of precursor metabolites and energy | 331/8552 | 490/18723 | 3.86e-23 | 8.45e-21 | 331 |
GO:0045333110 | Esophagus | ESCC | cellular respiration | 173/8552 | 230/18723 | 4.53e-20 | 5.99e-18 | 173 |
GO:0033108110 | Esophagus | ESCC | mitochondrial respiratory chain complex assembly | 83/8552 | 93/18723 | 9.56e-19 | 1.05e-16 | 83 |
GO:014005313 | Esophagus | ESCC | mitochondrial gene expression | 93/8552 | 108/18723 | 1.96e-18 | 2.03e-16 | 93 |
GO:0009060110 | Esophagus | ESCC | aerobic respiration | 145/8552 | 189/18723 | 2.16e-18 | 2.21e-16 | 145 |
GO:0015980110 | Esophagus | ESCC | energy derivation by oxidation of organic compounds | 220/8552 | 318/18723 | 1.20e-17 | 1.09e-15 | 220 |
GO:0006417111 | Esophagus | ESCC | regulation of translation | 304/8552 | 468/18723 | 1.53e-17 | 1.33e-15 | 304 |
GO:003254314 | Esophagus | ESCC | mitochondrial translation | 68/8552 | 76/18723 | 1.02e-15 | 6.86e-14 | 68 |
GO:001700413 | Esophagus | ESCC | cytochrome complex assembly | 34/8552 | 36/18723 | 5.08e-10 | 1.31e-08 | 34 |
GO:00060997 | Esophagus | ESCC | tricarboxylic acid cycle | 27/8552 | 30/18723 | 4.54e-07 | 6.15e-06 | 27 |
GO:000853512 | Esophagus | ESCC | respiratory chain complex IV assembly | 24/8552 | 26/18723 | 6.87e-07 | 8.99e-06 | 24 |
GO:003361712 | Esophagus | ESCC | mitochondrial cytochrome c oxidase assembly | 21/8552 | 22/18723 | 8.75e-07 | 1.13e-05 | 21 |
GO:00701292 | Esophagus | ESCC | regulation of mitochondrial translation | 22/8552 | 24/18723 | 2.82e-06 | 3.21e-05 | 22 |
GO:00097919 | Esophagus | ESCC | post-embryonic development | 56/8552 | 80/18723 | 9.08e-06 | 8.71e-05 | 56 |
GO:00621252 | Esophagus | ESCC | regulation of mitochondrial gene expression | 24/8552 | 28/18723 | 1.37e-05 | 1.25e-04 | 24 |
GO:005507617 | Esophagus | ESCC | transition metal ion homeostasis | 87/8552 | 138/18723 | 2.85e-05 | 2.37e-04 | 87 |
GO:001003827 | Esophagus | ESCC | response to metal ion | 208/8552 | 373/18723 | 5.02e-05 | 3.90e-04 | 208 |
GO:004346719 | Esophagus | ESCC | regulation of generation of precursor metabolites and energy | 81/8552 | 130/18723 | 9.58e-05 | 6.81e-04 | 81 |
GO:00469169 | Esophagus | ESCC | cellular transition metal ion homeostasis | 70/8552 | 115/18723 | 7.28e-04 | 3.79e-03 | 70 |
GO:00723503 | Esophagus | ESCC | tricarboxylic acid metabolic process | 12/8552 | 14/18723 | 2.51e-03 | 1.08e-02 | 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 |
ACO1 | SNV | Missense_Mutation | | c.2255T>A | p.Val752Glu | p.V752E | P21399 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
ACO1 | SNV | Missense_Mutation | | c.715N>T | p.Leu239Phe | p.L239F | P21399 | protein_coding | deleterious(0) | probably_damaging(0.915) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
ACO1 | insertion | In_Frame_Ins | novel | c.1566_1567insGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGAT | p.Thr522_Gln523insAlaLeuTrpGluAlaGluAlaGlyArgSerArgAsp | p.T522_Q523insALWEAEAGRSRD | P21399 | protein_coding | | | TCGA-AO-A03R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
ACO1 | SNV | Missense_Mutation | novel | c.1064N>C | p.Phe355Ser | p.F355S | P21399 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ACO1 | SNV | Missense_Mutation | | c.760C>G | p.Leu254Val | p.L254V | P21399 | protein_coding | tolerated(0.49) | benign(0.043) | TCGA-C5-A1BJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ACO1 | SNV | Missense_Mutation | | c.482N>T | p.Ser161Phe | p.S161F | P21399 | protein_coding | deleterious(0) | probably_damaging(0.939) | TCGA-IR-A3LL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ACO1 | SNV | Missense_Mutation | novel | c.1051N>G | p.Gln351Glu | p.Q351E | P21399 | protein_coding | tolerated(0.99) | benign(0.005) | TCGA-VS-A8EL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ACO1 | SNV | Missense_Mutation | | c.1001N>C | p.Lys334Thr | p.K334T | P21399 | protein_coding | deleterious(0.03) | benign(0.001) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ACO1 | SNV | Missense_Mutation | rs376599072 | c.57G>T | p.Lys19Asn | p.K19N | P21399 | protein_coding | tolerated(0.22) | benign(0.201) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ACO1 | SNV | Missense_Mutation | novel | c.469T>G | p.Leu157Val | p.L157V | P21399 | protein_coding | deleterious(0) | probably_damaging(0.923) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |