GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001050617 | Esophagus | ESCC | regulation of autophagy | 220/8552 | 317/18723 | 6.72e-18 | 6.36e-16 | 220 |
GO:001631110 | Esophagus | ESCC | dephosphorylation | 251/8552 | 417/18723 | 1.26e-09 | 2.99e-08 | 251 |
GO:00086544 | Esophagus | ESCC | phospholipid biosynthetic process | 162/8552 | 253/18723 | 2.59e-09 | 5.73e-08 | 162 |
GO:000647018 | Esophagus | ESCC | protein dephosphorylation | 177/8552 | 281/18723 | 3.13e-09 | 6.72e-08 | 177 |
GO:00464744 | Esophagus | ESCC | glycerophospholipid biosynthetic process | 135/8552 | 211/18723 | 5.75e-08 | 1.02e-06 | 135 |
GO:0035303111 | Esophagus | ESCC | regulation of dephosphorylation | 88/8552 | 128/18723 | 1.04e-07 | 1.71e-06 | 88 |
GO:00715599 | Esophagus | ESCC | response to transforming growth factor beta | 157/8552 | 256/18723 | 2.95e-07 | 4.23e-06 | 157 |
GO:00450175 | Esophagus | ESCC | glycerolipid biosynthetic process | 154/8552 | 252/18723 | 5.20e-07 | 6.96e-06 | 154 |
GO:00715609 | Esophagus | ESCC | cellular response to transforming growth factor beta stimulus | 151/8552 | 250/18723 | 1.78e-06 | 2.10e-05 | 151 |
GO:00066446 | Esophagus | ESCC | phospholipid metabolic process | 218/8552 | 383/18723 | 5.37e-06 | 5.59e-05 | 218 |
GO:00071799 | Esophagus | ESCC | transforming growth factor beta receptor signaling pathway | 121/8552 | 198/18723 | 8.26e-06 | 8.03e-05 | 121 |
GO:00066505 | Esophagus | ESCC | glycerophospholipid metabolic process | 174/8552 | 306/18723 | 4.92e-05 | 3.85e-04 | 174 |
GO:000717810 | Esophagus | ESCC | transmembrane receptor protein serine/threonine kinase signaling pathway | 195/8552 | 355/18723 | 2.58e-04 | 1.58e-03 | 195 |
GO:00464864 | Esophagus | ESCC | glycerolipid metabolic process | 211/8552 | 392/18723 | 6.51e-04 | 3.46e-03 | 211 |
GO:00170156 | Esophagus | ESCC | regulation of transforming growth factor beta receptor signaling pathway | 75/8552 | 128/18723 | 2.19e-03 | 9.71e-03 | 75 |
GO:19038447 | Esophagus | ESCC | regulation of cellular response to transforming growth factor beta stimulus | 76/8552 | 131/18723 | 2.96e-03 | 1.24e-02 | 76 |
GO:00302586 | Esophagus | ESCC | lipid modification | 116/8552 | 212/18723 | 4.90e-03 | 1.89e-02 | 116 |
GO:00192168 | Esophagus | ESCC | regulation of lipid metabolic process | 172/8552 | 331/18723 | 1.20e-02 | 4.02e-02 | 172 |
GO:00066611 | Esophagus | ESCC | phosphatidylinositol biosynthetic process | 73/8552 | 131/18723 | 1.31e-02 | 4.28e-02 | 73 |
GO:00302585 | Liver | NAFLD | lipid modification | 49/1882 | 212/18723 | 1.97e-08 | 2.17e-06 | 49 |
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 |
MTMR4 | SNV | Missense_Mutation | | c.1730G>A | p.Cys577Tyr | p.C577Y | Q9NYA4 | protein_coding | deleterious(0.01) | benign(0.374) | TCGA-A7-A0CE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
MTMR4 | SNV | Missense_Mutation | novel | c.3304N>T | p.Asp1102Tyr | p.D1102Y | Q9NYA4 | protein_coding | deleterious(0) | probably_damaging(0.978) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MTMR4 | SNV | Missense_Mutation | | c.2899N>G | p.His967Asp | p.H967D | Q9NYA4 | protein_coding | tolerated_low_confidence(0.34) | benign(0.072) | TCGA-AO-A0J4-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MTMR4 | SNV | Missense_Mutation | | c.2278N>T | p.Ala760Ser | p.A760S | Q9NYA4 | protein_coding | tolerated_low_confidence(0.92) | benign(0) | TCGA-AO-A0J9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |
MTMR4 | SNV | Missense_Mutation | rs745483455 | c.1546N>C | p.Cys516Arg | p.C516R | Q9NYA4 | protein_coding | tolerated(0.74) | benign(0.001) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MTMR4 | SNV | Missense_Mutation | | c.1738N>C | p.Gly580Arg | p.G580R | Q9NYA4 | protein_coding | tolerated(0.11) | benign(0.003) | TCGA-BH-A0HI-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
MTMR4 | SNV | Missense_Mutation | novel | c.3400N>T | p.His1134Tyr | p.H1134Y | Q9NYA4 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-E2-A15R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
MTMR4 | insertion | Frame_Shift_Ins | novel | c.455-1_455insACACTTGCGCAATGGGGCTGCCATCGCCCGCT | p.Gly152AspfsTer151 | p.G152Dfs*151 | Q9NYA4 | protein_coding | | | TCGA-A2-A04Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
MTMR4 | insertion | In_Frame_Ins | novel | c.714_715insTGTTGCCCAGGCTGGACTGCAGTGGCACAATCT | p.Ile238_Ser239insCysCysProGlyTrpThrAlaValAlaGlnSer | p.I238_S239insCCPGWTAVAQS | Q9NYA4 | protein_coding | | | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
MTMR4 | insertion | In_Frame_Ins | novel | c.938_939insAGGGAAATGGGT | p.Ser313_Tyr314insGlyLysTrpVal | p.S313_Y314insGKWV | Q9NYA4 | protein_coding | | | TCGA-BH-A0BD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |