GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00066316 | Liver | NAFLD | fatty acid metabolic process | 92/1882 | 390/18723 | 3.38e-15 | 3.29e-12 | 92 |
GO:00160535 | Liver | NAFLD | organic acid biosynthetic process | 77/1882 | 316/18723 | 1.03e-13 | 6.69e-11 | 77 |
GO:00463945 | Liver | NAFLD | carboxylic acid biosynthetic process | 75/1882 | 314/18723 | 6.37e-13 | 3.39e-10 | 75 |
GO:00092596 | Liver | NAFLD | ribonucleotide metabolic process | 72/1882 | 385/18723 | 1.51e-07 | 1.09e-05 | 72 |
GO:00196936 | Liver | NAFLD | ribose phosphate metabolic process | 73/1882 | 396/18723 | 2.23e-07 | 1.53e-05 | 73 |
GO:00091177 | Liver | NAFLD | nucleotide metabolic process | 85/1882 | 489/18723 | 3.31e-07 | 2.18e-05 | 85 |
GO:00723303 | Liver | NAFLD | monocarboxylic acid biosynthetic process | 46/1882 | 214/18723 | 5.06e-07 | 3.07e-05 | 46 |
GO:00067537 | Liver | NAFLD | nucleoside phosphate metabolic process | 85/1882 | 497/18723 | 6.69e-07 | 3.83e-05 | 85 |
GO:00725217 | Liver | NAFLD | purine-containing compound metabolic process | 74/1882 | 416/18723 | 7.73e-07 | 4.27e-05 | 74 |
GO:00091507 | Liver | NAFLD | purine ribonucleotide metabolic process | 67/1882 | 368/18723 | 1.10e-06 | 5.44e-05 | 67 |
GO:00061637 | Liver | NAFLD | purine nucleotide metabolic process | 70/1882 | 396/18723 | 1.93e-06 | 8.23e-05 | 70 |
GO:00067904 | Liver | NAFLD | sulfur compound metabolic process | 58/1882 | 339/18723 | 3.79e-05 | 9.38e-04 | 58 |
GO:00338653 | Liver | NAFLD | nucleoside bisphosphate metabolic process | 28/1882 | 128/18723 | 5.89e-05 | 1.30e-03 | 28 |
GO:00338753 | Liver | NAFLD | ribonucleoside bisphosphate metabolic process | 28/1882 | 128/18723 | 5.89e-05 | 1.30e-03 | 28 |
GO:00340323 | Liver | NAFLD | purine nucleoside bisphosphate metabolic process | 28/1882 | 128/18723 | 5.89e-05 | 1.30e-03 | 28 |
GO:0006637 | Liver | NAFLD | acyl-CoA metabolic process | 21/1882 | 96/18723 | 4.72e-04 | 6.74e-03 | 21 |
GO:0035383 | Liver | NAFLD | thioester metabolic process | 21/1882 | 96/18723 | 4.72e-04 | 6.74e-03 | 21 |
GO:00066334 | Liver | NAFLD | fatty acid biosynthetic process | 29/1882 | 163/18723 | 1.67e-03 | 1.74e-02 | 29 |
GO:000663112 | Liver | Cirrhotic | fatty acid metabolic process | 165/4634 | 390/18723 | 1.29e-14 | 1.26e-12 | 165 |
GO:001605312 | Liver | Cirrhotic | organic acid biosynthetic process | 139/4634 | 316/18723 | 4.28e-14 | 3.83e-12 | 139 |
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 |
ACSM5 | SNV | Missense_Mutation | novel | c.1315N>T | p.Pro439Ser | p.P439S | Q6NUN0 | protein_coding | deleterious(0.01) | probably_damaging(0.956) | TCGA-EY-A210-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
ACSM5 | SNV | Missense_Mutation | novel | c.361G>T | p.Val121Leu | p.V121L | Q6NUN0 | protein_coding | deleterious(0.02) | benign(0.022) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ACSM5 | SNV | Missense_Mutation | rs558864367 | c.694N>A | p.Gly232Arg | p.G232R | Q6NUN0 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ACSM5 | SNV | Missense_Mutation | novel | c.53C>T | p.Ala18Val | p.A18V | Q6NUN0 | protein_coding | tolerated(0.32) | benign(0) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
ACSM5 | SNV | Missense_Mutation | rs148458265 | c.409N>T | p.Arg137Trp | p.R137W | Q6NUN0 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-FI-A2F4-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ACSM5 | insertion | Nonsense_Mutation | novel | c.847_848insAGTTGGGCCAACTAC | p.Phe283delinsTer | p.F283delins* | Q6NUN0 | protein_coding | | | TCGA-B5-A11F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
ACSM5 | insertion | Nonsense_Mutation | novel | c.847_848insAGTTGGGCCAAC | p.Phe283delinsTer | p.F283delins* | Q6NUN0 | protein_coding | | | TCGA-B5-A11I-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | paclitaxel | PD |
ACSM5 | insertion | Nonsense_Mutation | novel | c.847_848insAGTTGGGCCAACTACTCATGTTAAGAACCA | p.Phe283delinsTer | p.F283delins* | Q6NUN0 | protein_coding | | | TCGA-B5-A11V-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ACSM5 | insertion | Nonsense_Mutation | novel | c.847_848insAGTTGGGCCAACTAC | p.Phe283delinsTer | p.F283delins* | Q6NUN0 | protein_coding | | | TCGA-D1-A0ZU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
ACSM5 | insertion | Frame_Shift_Ins | novel | c.706_707insC | p.Lys238GlnfsTer28 | p.K238Qfs*28 | Q6NUN0 | protein_coding | | | TCGA-CC-A7IH-01 | Liver | liver hepatocellular carcinoma | Male | <65 | III/IV | Unknown | Unknown | SD |