GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00463953 | Liver | NAFLD | carboxylic acid catabolic process | 73/1882 | 236/18723 | 4.16e-19 | 1.22e-15 | 73 |
GO:00160544 | Liver | NAFLD | organic acid catabolic process | 73/1882 | 240/18723 | 1.20e-18 | 2.34e-15 | 73 |
GO:00442825 | Liver | NAFLD | small molecule catabolic process | 91/1882 | 376/18723 | 8.96e-16 | 1.31e-12 | 91 |
GO:00066316 | Liver | NAFLD | fatty acid metabolic process | 92/1882 | 390/18723 | 3.38e-15 | 3.29e-12 | 92 |
GO:0009063 | Liver | NAFLD | cellular amino acid catabolic process | 36/1882 | 110/18723 | 6.56e-11 | 1.99e-08 | 36 |
GO:00065203 | Liver | NAFLD | cellular amino acid metabolic process | 63/1882 | 284/18723 | 1.14e-09 | 2.17e-07 | 63 |
GO:19016053 | Liver | NAFLD | alpha-amino acid metabolic process | 46/1882 | 195/18723 | 2.74e-08 | 2.86e-06 | 46 |
GO:1901606 | Liver | NAFLD | alpha-amino acid catabolic process | 25/1882 | 87/18723 | 8.67e-07 | 4.60e-05 | 25 |
GO:00090813 | Liver | NAFLD | branched-chain amino acid metabolic process | 8/1882 | 19/18723 | 2.81e-04 | 4.51e-03 | 8 |
GO:00090834 | Liver | NAFLD | branched-chain amino acid catabolic process | 7/1882 | 15/18723 | 3.18e-04 | 4.95e-03 | 7 |
GO:000663112 | Liver | Cirrhotic | fatty acid metabolic process | 165/4634 | 390/18723 | 1.29e-14 | 1.26e-12 | 165 |
GO:004428211 | Liver | Cirrhotic | small molecule catabolic process | 151/4634 | 376/18723 | 2.20e-11 | 1.34e-09 | 151 |
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: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:000908111 | Liver | Cirrhotic | branched-chain amino acid metabolic process | 14/4634 | 19/18723 | 1.00e-05 | 1.45e-04 | 14 |
GO:000908311 | Liver | Cirrhotic | branched-chain amino acid catabolic process | 11/4634 | 15/18723 | 1.04e-04 | 1.07e-03 | 11 |
GO:19016061 | Liver | Cirrhotic | alpha-amino acid catabolic process | 36/4634 | 87/18723 | 4.69e-04 | 3.78e-03 | 36 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa002806 | Liver | NAFLD | Valine, leucine and isoleucine degradation | 20/1043 | 48/8465 | 3.03e-07 | 1.65e-05 | 1.33e-05 | 20 |
hsa012126 | Liver | NAFLD | Fatty acid metabolism | 17/1043 | 57/8465 | 3.43e-04 | 5.93e-03 | 4.78e-03 | 17 |
hsa000718 | Liver | NAFLD | Fatty acid degradation | 13/1043 | 43/8465 | 1.46e-03 | 1.71e-02 | 1.38e-02 | 13 |
hsa0028011 | Liver | NAFLD | Valine, leucine and isoleucine degradation | 20/1043 | 48/8465 | 3.03e-07 | 1.65e-05 | 1.33e-05 | 20 |
hsa0121211 | Liver | NAFLD | Fatty acid metabolism | 17/1043 | 57/8465 | 3.43e-04 | 5.93e-03 | 4.78e-03 | 17 |
hsa0007111 | Liver | NAFLD | Fatty acid degradation | 13/1043 | 43/8465 | 1.46e-03 | 1.71e-02 | 1.38e-02 | 13 |
hsa0028021 | Liver | Cirrhotic | Valine, leucine and isoleucine degradation | 32/2530 | 48/8465 | 1.45e-07 | 2.02e-06 | 1.24e-06 | 32 |
hsa0007121 | Liver | Cirrhotic | Fatty acid degradation | 29/2530 | 43/8465 | 3.87e-07 | 4.95e-06 | 3.05e-06 | 29 |
hsa012122 | Liver | Cirrhotic | Fatty acid metabolism | 32/2530 | 57/8465 | 3.12e-05 | 2.47e-04 | 1.52e-04 | 32 |
hsa0028031 | Liver | Cirrhotic | Valine, leucine and isoleucine degradation | 32/2530 | 48/8465 | 1.45e-07 | 2.02e-06 | 1.24e-06 | 32 |
hsa0007131 | Liver | Cirrhotic | Fatty acid degradation | 29/2530 | 43/8465 | 3.87e-07 | 4.95e-06 | 3.05e-06 | 29 |
hsa012123 | Liver | Cirrhotic | Fatty acid metabolism | 32/2530 | 57/8465 | 3.12e-05 | 2.47e-04 | 1.52e-04 | 32 |
hsa0028041 | Liver | HCC | Valine, leucine and isoleucine degradation | 41/4020 | 48/8465 | 4.84e-08 | 7.05e-07 | 3.92e-07 | 41 |
hsa012124 | Liver | HCC | Fatty acid metabolism | 45/4020 | 57/8465 | 1.05e-06 | 1.10e-05 | 6.09e-06 | 45 |
hsa0007141 | Liver | HCC | Fatty acid degradation | 33/4020 | 43/8465 | 8.41e-05 | 4.27e-04 | 2.37e-04 | 33 |
hsa0028051 | Liver | HCC | Valine, leucine and isoleucine degradation | 41/4020 | 48/8465 | 4.84e-08 | 7.05e-07 | 3.92e-07 | 41 |
hsa012125 | Liver | HCC | Fatty acid metabolism | 45/4020 | 57/8465 | 1.05e-06 | 1.10e-05 | 6.09e-06 | 45 |
hsa0007151 | Liver | HCC | Fatty acid degradation | 33/4020 | 43/8465 | 8.41e-05 | 4.27e-04 | 2.37e-04 | 33 |
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 |
ACADSB | SNV | Missense_Mutation | rs745900584 | c.1100C>T | p.Ala367Val | p.A367V | P45954 | protein_coding | deleterious(0) | possibly_damaging(0.873) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
ACADSB | SNV | Missense_Mutation | rs368438650 | c.1285N>A | p.Asp429Asn | p.D429N | P45954 | protein_coding | tolerated(0.17) | benign(0.005) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
ACADSB | SNV | Missense_Mutation | novel | c.1216N>T | p.Asp406Tyr | p.D406Y | P45954 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ACADSB | SNV | Missense_Mutation | rs763284518 | c.818C>T | p.Ala273Val | p.A273V | P45954 | protein_coding | tolerated(0.07) | benign(0) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ACADSB | SNV | Missense_Mutation | | c.796N>A | p.Glu266Lys | p.E266K | P45954 | protein_coding | deleterious(0.04) | benign(0.105) | TCGA-D1-A16X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ACADSB | SNV | Missense_Mutation | rs745481903 | c.260C>T | p.Ser87Leu | p.S87L | P45954 | protein_coding | deleterious(0.05) | possibly_damaging(0.584) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
ACADSB | SNV | Missense_Mutation | novel | c.1231A>G | p.Thr411Ala | p.T411A | P45954 | protein_coding | tolerated(0.86) | benign(0.012) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
ACADSB | SNV | Missense_Mutation | | c.207N>C | p.Lys69Asn | p.K69N | P45954 | protein_coding | tolerated(0.12) | benign(0.021) | TCGA-EO-A1Y5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
ACADSB | SNV | Missense_Mutation | rs138063747 | c.715N>T | p.Arg239Cys | p.R239C | P45954 | protein_coding | deleterious(0) | possibly_damaging(0.826) | TCGA-EO-A3AY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
ACADSB | SNV | Missense_Mutation | novel | c.896N>T | p.Ala299Val | p.A299V | P45954 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |