GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00550883 | Liver | NAFLD | lipid homeostasis | 44/1882 | 167/18723 | 1.48e-09 | 2.54e-07 | 44 |
GO:00066413 | Liver | NAFLD | triglyceride metabolic process | 29/1882 | 100/18723 | 9.51e-08 | 7.62e-06 | 29 |
GO:00108765 | Liver | NAFLD | lipid localization | 79/1882 | 448/18723 | 4.75e-07 | 2.92e-05 | 79 |
GO:00066392 | Liver | NAFLD | acylglycerol metabolic process | 32/1882 | 128/18723 | 8.82e-07 | 4.60e-05 | 32 |
GO:00066382 | Liver | NAFLD | neutral lipid metabolic process | 32/1882 | 129/18723 | 1.06e-06 | 5.35e-05 | 32 |
GO:00068694 | Liver | NAFLD | lipid transport | 71/1882 | 398/18723 | 1.16e-06 | 5.59e-05 | 71 |
GO:00159183 | Liver | NAFLD | sterol transport | 32/1882 | 130/18723 | 1.27e-06 | 6.01e-05 | 32 |
GO:00426323 | Liver | NAFLD | cholesterol homeostasis | 26/1882 | 96/18723 | 1.83e-06 | 7.86e-05 | 26 |
GO:00550923 | Liver | NAFLD | sterol homeostasis | 26/1882 | 97/18723 | 2.26e-06 | 9.51e-05 | 26 |
GO:00485115 | Liver | NAFLD | rhythmic process | 56/1882 | 298/18723 | 3.03e-06 | 1.23e-04 | 56 |
GO:00718252 | Liver | NAFLD | protein-lipid complex subunit organization | 17/1882 | 50/18723 | 3.92e-06 | 1.54e-04 | 17 |
GO:00718272 | Liver | NAFLD | plasma lipoprotein particle organization | 16/1882 | 46/18723 | 5.37e-06 | 1.95e-04 | 16 |
GO:00076236 | Liver | NAFLD | circadian rhythm | 42/1882 | 210/18723 | 1.06e-05 | 3.34e-04 | 42 |
GO:00343682 | Liver | NAFLD | protein-lipid complex remodeling | 12/1882 | 30/18723 | 1.58e-05 | 4.56e-04 | 12 |
GO:00343692 | Liver | NAFLD | plasma lipoprotein particle remodeling | 12/1882 | 30/18723 | 1.58e-05 | 4.56e-04 | 12 |
GO:00464863 | Liver | NAFLD | glycerolipid metabolic process | 66/1882 | 392/18723 | 1.94e-05 | 5.52e-04 | 66 |
GO:00343672 | Liver | NAFLD | protein-containing complex remodeling | 12/1882 | 32/18723 | 3.40e-05 | 8.80e-04 | 12 |
GO:00100387 | Liver | NAFLD | response to metal ion | 62/1882 | 373/18723 | 5.05e-05 | 1.19e-03 | 62 |
GO:0015850 | Liver | NAFLD | organic hydroxy compound transport | 50/1882 | 284/18723 | 6.01e-05 | 1.32e-03 | 50 |
GO:00650052 | Liver | NAFLD | protein-lipid complex assembly | 11/1882 | 31/18723 | 1.29e-04 | 2.47e-03 | 11 |
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 |
MTTP | SNV | Missense_Mutation | novel | c.1261C>A | p.Leu421Ile | p.L421I | | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MTTP | SNV | Missense_Mutation | | c.2288N>G | p.Asp763Gly | p.D763G | | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-AR-A1AO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MTTP | SNV | Missense_Mutation | | c.2680G>A | p.Glu894Lys | p.E894K | | protein_coding | deleterious(0) | possibly_damaging(0.777) | TCGA-B6-A0WZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
MTTP | SNV | Missense_Mutation | | c.2119N>A | p.Asp707Asn | p.D707N | | protein_coding | tolerated(0.06) | probably_damaging(0.988) | TCGA-C8-A12T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MTTP | SNV | Missense_Mutation | | c.1933N>G | p.Thr645Ala | p.T645A | | protein_coding | tolerated(0.08) | benign(0.182) | TCGA-C8-A26W-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR |
MTTP | SNV | Missense_Mutation | novel | c.1994N>T | p.Ser665Leu | p.S665L | | protein_coding | tolerated(0.62) | possibly_damaging(0.907) | TCGA-S3-A6ZG-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
MTTP | insertion | Nonsense_Mutation | novel | c.1366_1367insATAGGGATAATAATTCTTTCTATTTATTGTAGGCTAG | p.Met456AsnfsTer11 | p.M456Nfs*11 | | protein_coding | | | TCGA-A8-A09B-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
MTTP | insertion | Nonsense_Mutation | novel | c.1127_1128insTTTATTCCTAGGAGAACACCCTTTGTAAATGTG | p.Lys376delinsAsnLeuPheLeuGlyGluHisProLeuTerMetTrp | p.K376delinsNLFLGEHPL*MW | | protein_coding | | | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MTTP | insertion | In_Frame_Ins | novel | c.1637_1638insAGACACAGGAAAGATGGGAAAAGAGAT | p.Glu546_Val547insAspThrGlyLysMetGlyLysGluMet | p.E546_V547insDTGKMGKEM | | protein_coding | | | TCGA-BH-A0GZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
MTTP | SNV | Missense_Mutation | novel | c.2008N>G | p.Leu670Val | p.L670V | | protein_coding | deleterious(0.01) | possibly_damaging(0.555) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |