GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00715593 | Liver | NAFLD | response to transforming growth factor beta | 51/1882 | 256/18723 | 1.43e-06 | 6.58e-05 | 51 |
GO:00192163 | Liver | NAFLD | regulation of lipid metabolic process | 61/1882 | 331/18723 | 2.18e-06 | 9.24e-05 | 61 |
GO:00715603 | Liver | NAFLD | cellular response to transforming growth factor beta stimulus | 48/1882 | 250/18723 | 8.27e-06 | 2.76e-04 | 48 |
GO:00105065 | Liver | NAFLD | regulation of autophagy | 57/1882 | 317/18723 | 1.00e-05 | 3.18e-04 | 57 |
GO:00464863 | Liver | NAFLD | glycerolipid metabolic process | 66/1882 | 392/18723 | 1.94e-05 | 5.52e-04 | 66 |
GO:00163115 | Liver | NAFLD | dephosphorylation | 69/1882 | 417/18723 | 2.27e-05 | 6.23e-04 | 69 |
GO:00064706 | Liver | NAFLD | protein dephosphorylation | 50/1882 | 281/18723 | 4.53e-05 | 1.09e-03 | 50 |
GO:00071793 | Liver | NAFLD | transforming growth factor beta receptor signaling pathway | 37/1882 | 198/18723 | 1.53e-04 | 2.82e-03 | 37 |
GO:00450174 | Liver | NAFLD | glycerolipid biosynthetic process | 43/1882 | 252/18723 | 3.83e-04 | 5.73e-03 | 43 |
GO:00071784 | Liver | NAFLD | transmembrane receptor protein serine/threonine kinase signaling pathway | 56/1882 | 355/18723 | 4.50e-04 | 6.62e-03 | 56 |
GO:19038443 | Liver | NAFLD | regulation of cellular response to transforming growth factor beta stimulus | 23/1882 | 131/18723 | 5.62e-03 | 4.29e-02 | 23 |
GO:00464742 | Liver | NAFLD | glycerophospholipid biosynthetic process | 33/1882 | 211/18723 | 6.93e-03 | 4.88e-02 | 33 |
GO:001050621 | Liver | HCC | regulation of autophagy | 210/7958 | 317/18723 | 7.59e-18 | 8.45e-16 | 210 |
GO:00086542 | Liver | HCC | phospholipid biosynthetic process | 150/7958 | 253/18723 | 4.77e-08 | 1.03e-06 | 150 |
GO:00066444 | Liver | HCC | phospholipid metabolic process | 214/7958 | 383/18723 | 7.25e-08 | 1.48e-06 | 214 |
GO:001631121 | Liver | HCC | dephosphorylation | 230/7958 | 417/18723 | 1.00e-07 | 1.96e-06 | 230 |
GO:000647021 | Liver | HCC | protein dephosphorylation | 162/7958 | 281/18723 | 1.91e-07 | 3.46e-06 | 162 |
GO:004648611 | Liver | HCC | glycerolipid metabolic process | 215/7958 | 392/18723 | 4.54e-07 | 7.49e-06 | 215 |
GO:004501711 | Liver | HCC | glycerolipid biosynthetic process | 143/7958 | 252/18723 | 3.27e-06 | 4.31e-05 | 143 |
GO:003025821 | Liver | HCC | lipid modification | 123/7958 | 212/18723 | 3.50e-06 | 4.58e-05 | 123 |
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 |