GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001605411 | Liver | Cirrhotic | organic acid catabolic process | 104/4634 | 240/18723 | 1.91e-10 | 9.53e-09 | 104 |
GO:004639511 | Liver | Cirrhotic | carboxylic acid catabolic process | 102/4634 | 236/18723 | 3.41e-10 | 1.63e-08 | 102 |
GO:007252112 | Liver | Cirrhotic | purine-containing compound metabolic process | 156/4634 | 416/18723 | 3.74e-09 | 1.52e-07 | 156 |
GO:000915012 | Liver | Cirrhotic | purine ribonucleotide metabolic process | 141/4634 | 368/18723 | 4.22e-09 | 1.70e-07 | 141 |
GO:000679011 | Liver | Cirrhotic | sulfur compound metabolic process | 129/4634 | 339/18723 | 3.06e-08 | 1.04e-06 | 129 |
GO:000616312 | Liver | Cirrhotic | purine nucleotide metabolic process | 146/4634 | 396/18723 | 4.12e-08 | 1.34e-06 | 146 |
GO:19016051 | Liver | Cirrhotic | alpha-amino acid metabolic process | 82/4634 | 195/18723 | 7.72e-08 | 2.30e-06 | 82 |
GO:00090631 | Liver | Cirrhotic | cellular amino acid catabolic process | 49/4634 | 110/18723 | 4.47e-06 | 7.42e-05 | 49 |
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:001657011 | Liver | Cirrhotic | histone modification | 154/4634 | 463/18723 | 1.92e-05 | 2.57e-04 | 154 |
GO:003105611 | Liver | Cirrhotic | regulation of histone modification | 59/4634 | 152/18723 | 8.28e-05 | 9.02e-04 | 59 |
GO:0006084 | Liver | Cirrhotic | acetyl-CoA metabolic process | 19/4634 | 35/18723 | 1.70e-04 | 1.60e-03 | 19 |
GO:00338651 | Liver | Cirrhotic | nucleoside bisphosphate metabolic process | 50/4634 | 128/18723 | 2.32e-04 | 2.11e-03 | 50 |
GO:00338751 | Liver | Cirrhotic | ribonucleoside bisphosphate metabolic process | 50/4634 | 128/18723 | 2.32e-04 | 2.11e-03 | 50 |
GO:00340321 | Liver | Cirrhotic | purine nucleoside bisphosphate metabolic process | 50/4634 | 128/18723 | 2.32e-04 | 2.11e-03 | 50 |
GO:19016061 | Liver | Cirrhotic | alpha-amino acid catabolic process | 36/4634 | 87/18723 | 4.69e-04 | 3.78e-03 | 36 |
GO:00066371 | Liver | Cirrhotic | acyl-CoA metabolic process | 38/4634 | 96/18723 | 9.23e-04 | 6.57e-03 | 38 |
GO:00353831 | Liver | Cirrhotic | thioester metabolic process | 38/4634 | 96/18723 | 9.23e-04 | 6.57e-03 | 38 |
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 |
AASS | SNV | Missense_Mutation | rs746536178 | c.788N>T | p.Thr263Met | p.T263M | Q9UDR5 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-A2-A0EN-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
AASS | SNV | Missense_Mutation | | c.1004N>T | p.Ser335Leu | p.S335L | Q9UDR5 | protein_coding | tolerated(0.74) | benign(0.243) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
AASS | SNV | Missense_Mutation | | c.1301C>T | p.Pro434Leu | p.P434L | Q9UDR5 | protein_coding | deleterious(0) | probably_damaging(0.913) | TCGA-C8-A1HI-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
AASS | insertion | Nonsense_Mutation | novel | c.2278_2279insAGT | p.Thr759_Trp760insTer | p.T759_W760ins* | Q9UDR5 | protein_coding | | | TCGA-A7-A0CD-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
AASS | insertion | Nonsense_Mutation | novel | c.2276_2277insTTGGACTTCCTGAAAGTGAGAATCCATGAGAGTTA | p.Lys761ThrfsTer3 | p.K761Tfs*3 | Q9UDR5 | protein_coding | | | TCGA-A7-A0CD-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
AASS | insertion | Nonsense_Mutation | novel | c.1190_1191insTTTATAATGGTAAATGTTTAA | p.Met397delinsIleLeuTerTrpTerMetPheLys | p.M397delinsIL*W*MFK | Q9UDR5 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
AASS | deletion | Frame_Shift_Del | novel | c.2015delN | p.Lys672ArgfsTer3 | p.K672Rfs*3 | Q9UDR5 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
AASS | deletion | Frame_Shift_Del | novel | c.2390delN | p.Ala797ValfsTer28 | p.A797Vfs*28 | Q9UDR5 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
AASS | SNV | Missense_Mutation | rs756447554 | c.824C>T | p.Thr275Ile | p.T275I | Q9UDR5 | protein_coding | tolerated(0.23) | benign(0.329) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
AASS | SNV | Missense_Mutation | | c.2554G>A | p.Glu852Lys | p.E852K | Q9UDR5 | protein_coding | deleterious(0) | possibly_damaging(0.549) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |