GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00066318 | Esophagus | ESCC | fatty acid metabolic process | 217/8552 | 390/18723 | 4.21e-05 | 3.39e-04 | 217 |
GO:00065757 | Esophagus | ESCC | cellular modified amino acid metabolic process | 112/8552 | 188/18723 | 8.31e-05 | 6.06e-04 | 112 |
GO:00086525 | Esophagus | ESCC | cellular amino acid biosynthetic process | 51/8552 | 76/18723 | 1.30e-04 | 8.88e-04 | 51 |
GO:00067671 | Esophagus | ESCC | water-soluble vitamin metabolic process | 41/8552 | 59/18723 | 1.84e-04 | 1.17e-03 | 41 |
GO:00463948 | Esophagus | ESCC | carboxylic acid biosynthetic process | 175/8552 | 314/18723 | 1.98e-04 | 1.26e-03 | 175 |
GO:00067661 | Esophagus | ESCC | vitamin metabolic process | 67/8552 | 106/18723 | 2.03e-04 | 1.28e-03 | 67 |
GO:00160538 | Esophagus | ESCC | organic acid biosynthetic process | 175/8552 | 316/18723 | 3.04e-04 | 1.82e-03 | 175 |
GO:19016075 | Esophagus | ESCC | alpha-amino acid biosynthetic process | 45/8552 | 68/18723 | 5.13e-04 | 2.84e-03 | 45 |
GO:00090674 | Esophagus | ESCC | aspartate family amino acid biosynthetic process | 17/8552 | 21/18723 | 1.03e-03 | 5.19e-03 | 17 |
GO:001605312 | Liver | Cirrhotic | organic acid biosynthetic process | 139/4634 | 316/18723 | 4.28e-14 | 3.83e-12 | 139 |
GO:004639412 | Liver | Cirrhotic | carboxylic acid biosynthetic process | 137/4634 | 314/18723 | 1.40e-13 | 1.14e-11 | 137 |
GO:19016051 | Liver | Cirrhotic | alpha-amino acid metabolic process | 82/4634 | 195/18723 | 7.72e-08 | 2.30e-06 | 82 |
GO:000652011 | Liver | Cirrhotic | cellular amino acid metabolic process | 103/4634 | 284/18723 | 8.88e-06 | 1.30e-04 | 103 |
GO:00086521 | Liver | Cirrhotic | cellular amino acid biosynthetic process | 36/4634 | 76/18723 | 1.55e-05 | 2.11e-04 | 36 |
GO:19016071 | Liver | Cirrhotic | alpha-amino acid biosynthetic process | 33/4634 | 68/18723 | 1.84e-05 | 2.49e-04 | 33 |
GO:000657511 | Liver | Cirrhotic | cellular modified amino acid metabolic process | 70/4634 | 188/18723 | 9.04e-05 | 9.69e-04 | 70 |
GO:00090661 | Liver | Cirrhotic | aspartate family amino acid metabolic process | 21/4634 | 49/18723 | 4.13e-03 | 2.21e-02 | 21 |
GO:00090671 | Liver | Cirrhotic | aspartate family amino acid biosynthetic process | 11/4634 | 21/18723 | 5.89e-03 | 2.95e-02 | 11 |
GO:001605321 | Liver | HCC | organic acid biosynthetic process | 200/7958 | 316/18723 | 5.24e-14 | 3.22e-12 | 200 |
GO:004639421 | Liver | HCC | carboxylic acid biosynthetic process | 198/7958 | 314/18723 | 1.19e-13 | 6.78e-12 | 198 |
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 |
AASDH | SNV | Missense_Mutation | | c.1514N>A | p.Leu505His | p.L505H | Q4L235 | protein_coding | deleterious(0) | probably_damaging(0.985) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
AASDH | SNV | Missense_Mutation | novel | c.1879C>A | p.Leu627Ile | p.L627I | Q4L235 | protein_coding | tolerated(0.14) | benign(0.007) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
AASDH | SNV | Missense_Mutation | novel | c.2306C>A | p.Ala769Asp | p.A769D | Q4L235 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AX-A1C5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | SD |
AASDH | SNV | Missense_Mutation | novel | c.1727N>C | p.Val576Ala | p.V576A | Q4L235 | protein_coding | deleterious(0.01) | possibly_damaging(0.591) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
AASDH | SNV | Missense_Mutation | novel | c.1201N>T | p.Val401Leu | p.V401L | Q4L235 | protein_coding | tolerated(0.09) | benign(0.224) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
AASDH | SNV | Missense_Mutation | | c.653A>C | p.Asn218Thr | p.N218T | Q4L235 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AX-A3GB-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | SD |
AASDH | SNV | Missense_Mutation | | c.1450C>A | p.Leu484Ile | p.L484I | Q4L235 | protein_coding | tolerated(0.08) | benign(0.37) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
AASDH | SNV | Missense_Mutation | novel | c.2423N>G | p.Gln808Arg | p.Q808R | Q4L235 | protein_coding | tolerated(1) | benign(0.007) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
AASDH | SNV | Missense_Mutation | novel | c.1571N>A | p.Ser524Tyr | p.S524Y | Q4L235 | protein_coding | tolerated(0.08) | possibly_damaging(0.656) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AASDH | SNV | Missense_Mutation | novel | c.454A>G | p.Asn152Asp | p.N152D | Q4L235 | protein_coding | tolerated(0.15) | benign(0.001) | TCGA-BG-A222-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |