GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005105215 | Esophagus | ESCC | regulation of DNA metabolic process | 232/8552 | 359/18723 | 2.40e-13 | 1.13e-11 | 232 |
GO:0031667111 | Esophagus | ESCC | response to nutrient levels | 289/8552 | 474/18723 | 9.25e-12 | 3.47e-10 | 289 |
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:000756820 | Esophagus | ESCC | aging | 201/8552 | 339/18723 | 2.64e-07 | 3.94e-06 | 201 |
GO:00420636 | Esophagus | ESCC | gliogenesis | 172/8552 | 301/18723 | 3.75e-05 | 3.04e-04 | 172 |
GO:000941020 | Esophagus | ESCC | response to xenobiotic stimulus | 253/8552 | 462/18723 | 4.55e-05 | 3.58e-04 | 253 |
GO:005076710 | Esophagus | ESCC | regulation of neurogenesis | 203/8552 | 364/18723 | 6.10e-05 | 4.68e-04 | 203 |
GO:00100016 | Esophagus | ESCC | glial cell differentiation | 129/8552 | 225/18723 | 2.73e-04 | 1.65e-03 | 129 |
GO:00519606 | Esophagus | ESCC | regulation of nervous system development | 237/8552 | 443/18723 | 5.02e-04 | 2.78e-03 | 237 |
GO:0006304 | Esophagus | ESCC | DNA modification | 68/8552 | 120/18723 | 9.95e-03 | 3.42e-02 | 68 |
GO:00140131 | Esophagus | ESCC | regulation of gliogenesis | 59/8552 | 103/18723 | 1.17e-02 | 3.91e-02 | 59 |
GO:003166722 | Liver | HCC | response to nutrient levels | 276/7958 | 474/18723 | 2.30e-12 | 1.08e-10 | 276 |
GO:00434141 | Liver | HCC | macromolecule methylation | 183/7958 | 316/18723 | 2.00e-08 | 4.72e-07 | 183 |
GO:0032259 | Liver | HCC | methylation | 206/7958 | 364/18723 | 3.35e-08 | 7.53e-07 | 206 |
GO:000941022 | Liver | HCC | response to xenobiotic stimulus | 248/7958 | 462/18723 | 6.47e-07 | 1.02e-05 | 248 |
GO:005105221 | Liver | HCC | regulation of DNA metabolic process | 198/7958 | 359/18723 | 7.62e-07 | 1.17e-05 | 198 |
GO:000756822 | Liver | HCC | aging | 185/7958 | 339/18723 | 4.28e-06 | 5.50e-05 | 185 |
GO:00323552 | Liver | HCC | response to estradiol | 81/7958 | 141/18723 | 2.39e-04 | 1.79e-03 | 81 |
GO:00507674 | Liver | HCC | regulation of neurogenesis | 181/7958 | 364/18723 | 3.00e-03 | 1.40e-02 | 181 |
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 |
MBD1 | SNV | Missense_Mutation | rs755717520 | c.53G>A | p.Arg18His | p.R18H | Q9UIS9 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MBD1 | SNV | Missense_Mutation | | c.686G>T | p.Arg229Leu | p.R229L | Q9UIS9 | protein_coding | deleterious(0.01) | probably_damaging(0.995) | TCGA-D1-A177-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
MBD1 | SNV | Missense_Mutation | novel | c.178A>G | p.Thr60Ala | p.T60A | Q9UIS9 | protein_coding | deleterious(0) | benign(0.068) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
MBD1 | SNV | Missense_Mutation | novel | c.94G>A | p.Asp32Asn | p.D32N | Q9UIS9 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
MBD1 | SNV | Missense_Mutation | | c.1105N>T | p.Arg369Cys | p.R369C | Q9UIS9 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MBD1 | SNV | Missense_Mutation | novel | c.517N>T | p.Arg173Cys | p.R173C | Q9UIS9 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
MBD1 | SNV | Missense_Mutation | novel | c.1469N>T | p.Ser490Ile | p.S490I | Q9UIS9 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.996) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
MBD1 | SNV | Missense_Mutation | novel | c.973N>A | p.Glu325Lys | p.E325K | Q9UIS9 | protein_coding | tolerated(0.17) | benign(0.265) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
MBD1 | SNV | Missense_Mutation | rs573408638 | c.808N>T | p.Arg270Cys | p.R270C | Q9UIS9 | protein_coding | deleterious(0) | possibly_damaging(0.814) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MBD1 | SNV | Missense_Mutation | | c.233N>T | p.Pro78Leu | p.P78L | Q9UIS9 | protein_coding | deleterious(0) | benign(0.087) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |