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.1094N>G | p.Ser365Cys | p.S365C | Q4L235 | protein_coding | tolerated(0.08) | benign(0.096) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
AASDH | SNV | Missense_Mutation | novel | c.74N>C | p.Cys25Ser | p.C25S | Q4L235 | protein_coding | tolerated(0.23) | benign(0.012) | TCGA-AC-A5XU-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | letrozole | SD |
AASDH | SNV | Missense_Mutation | | c.1619A>G | p.Tyr540Cys | p.Y540C | Q4L235 | protein_coding | deleterious(0.03) | possibly_damaging(0.533) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AASDH | SNV | Missense_Mutation | rs773718786 | c.1996N>C | p.Ile666Leu | p.I666L | Q4L235 | protein_coding | tolerated(0.28) | benign(0.001) | TCGA-UL-AAZ6-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | herceptin | SD |
AASDH | SNV | Missense_Mutation | novel | c.2620N>G | p.His874Asp | p.H874D | Q4L235 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-WT-AB41-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
AASDH | insertion | Frame_Shift_Ins | novel | c.2159_2160insT | p.Lys720AsnfsTer23 | p.K720Nfs*23 | Q4L235 | protein_coding | | | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | | SD |
AASDH | insertion | Frame_Shift_Ins | novel | c.2158_2159insTAAGTCATCTACAACTGTGTACATTGGTTCCCATTCTC | p.Lys720IlefsTer16 | p.K720Ifs*16 | Q4L235 | protein_coding | | | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | | SD |
AASDH | SNV | Missense_Mutation | novel | c.1577G>A | p.Gly526Asp | p.G526D | Q4L235 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
AASDH | SNV | Missense_Mutation | | c.448N>A | p.Glu150Lys | p.E150K | Q4L235 | protein_coding | tolerated(0.17) | benign(0.192) | TCGA-C5-A1BM-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
AASDH | SNV | Missense_Mutation | | c.761N>T | p.Ser254Leu | p.S254L | Q4L235 | protein_coding | deleterious(0) | possibly_damaging(0.735) | TCGA-FU-A3YQ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |