GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000609112 | Liver | Cirrhotic | generation of precursor metabolites and energy | 238/4634 | 490/18723 | 6.85e-31 | 1.07e-27 | 238 |
GO:000820211 | Liver | Cirrhotic | steroid metabolic process | 143/4634 | 319/18723 | 2.79e-15 | 3.18e-13 | 143 |
GO:19026521 | Liver | Cirrhotic | secondary alcohol metabolic process | 75/4634 | 147/18723 | 5.62e-12 | 3.91e-10 | 75 |
GO:000675312 | Liver | Cirrhotic | nucleoside phosphate metabolic process | 190/4634 | 497/18723 | 1.10e-11 | 6.96e-10 | 190 |
GO:000911712 | Liver | Cirrhotic | nucleotide metabolic process | 187/4634 | 489/18723 | 1.55e-11 | 9.63e-10 | 187 |
GO:00082031 | Liver | Cirrhotic | cholesterol metabolic process | 70/4634 | 137/18723 | 2.59e-11 | 1.55e-09 | 70 |
GO:00161251 | Liver | Cirrhotic | sterol metabolic process | 75/4634 | 152/18723 | 4.54e-11 | 2.61e-09 | 75 |
GO:001969312 | Liver | Cirrhotic | ribose phosphate metabolic process | 156/4634 | 396/18723 | 5.83e-11 | 3.23e-09 | 156 |
GO:000606612 | Liver | Cirrhotic | alcohol metabolic process | 141/4634 | 353/18723 | 1.57e-10 | 8.03e-09 | 141 |
GO:000925912 | Liver | Cirrhotic | ribonucleotide metabolic process | 151/4634 | 385/18723 | 1.72e-10 | 8.70e-09 | 151 |
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:00066941 | Liver | Cirrhotic | steroid biosynthetic process | 77/4634 | 173/18723 | 1.02e-08 | 3.91e-07 | 77 |
GO:0016126 | Liver | Cirrhotic | sterol biosynthetic process | 37/4634 | 64/18723 | 1.74e-08 | 6.32e-07 | 37 |
GO:0006695 | Liver | Cirrhotic | cholesterol biosynthetic process | 34/4634 | 57/18723 | 2.22e-08 | 7.77e-07 | 34 |
GO:1902653 | Liver | Cirrhotic | secondary alcohol biosynthetic process | 34/4634 | 57/18723 | 2.22e-08 | 7.77e-07 | 34 |
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:0046165 | Liver | Cirrhotic | alcohol biosynthetic process | 55/4634 | 140/18723 | 9.74e-05 | 1.03e-03 | 55 |
GO:0006084 | Liver | Cirrhotic | acetyl-CoA metabolic process | 19/4634 | 35/18723 | 1.70e-04 | 1.60e-03 | 19 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa00280 | Colorectum | AD | Valine, leucine and isoleucine degradation | 25/2092 | 48/8465 | 3.97e-05 | 3.41e-04 | 2.18e-04 | 25 |
hsa002801 | Colorectum | AD | Valine, leucine and isoleucine degradation | 25/2092 | 48/8465 | 3.97e-05 | 3.41e-04 | 2.18e-04 | 25 |
hsa002802 | Colorectum | MSS | Valine, leucine and isoleucine degradation | 21/1875 | 48/8465 | 6.73e-04 | 4.51e-03 | 2.76e-03 | 21 |
hsa002803 | Colorectum | MSS | Valine, leucine and isoleucine degradation | 21/1875 | 48/8465 | 6.73e-04 | 4.51e-03 | 2.76e-03 | 21 |
hsa002804 | Colorectum | FAP | Valine, leucine and isoleucine degradation | 18/1404 | 48/8465 | 3.94e-04 | 3.06e-03 | 1.86e-03 | 18 |
hsa002805 | Colorectum | FAP | Valine, leucine and isoleucine degradation | 18/1404 | 48/8465 | 3.94e-04 | 3.06e-03 | 1.86e-03 | 18 |
hsa002806 | Liver | NAFLD | Valine, leucine and isoleucine degradation | 20/1043 | 48/8465 | 3.03e-07 | 1.65e-05 | 1.33e-05 | 20 |
hsa033206 | Liver | NAFLD | PPAR signaling pathway | 25/1043 | 75/8465 | 1.61e-06 | 6.62e-05 | 5.33e-05 | 25 |
hsa0028011 | Liver | NAFLD | Valine, leucine and isoleucine degradation | 20/1043 | 48/8465 | 3.03e-07 | 1.65e-05 | 1.33e-05 | 20 |
hsa0332011 | Liver | NAFLD | PPAR signaling pathway | 25/1043 | 75/8465 | 1.61e-06 | 6.62e-05 | 5.33e-05 | 25 |
hsa0028021 | Liver | Cirrhotic | Valine, leucine and isoleucine degradation | 32/2530 | 48/8465 | 1.45e-07 | 2.02e-06 | 1.24e-06 | 32 |
hsa006502 | Liver | Cirrhotic | Butanoate metabolism | 15/2530 | 27/8465 | 4.71e-03 | 1.74e-02 | 1.07e-02 | 15 |
hsa0332021 | Liver | Cirrhotic | PPAR signaling pathway | 32/2530 | 75/8465 | 1.24e-02 | 3.92e-02 | 2.42e-02 | 32 |
hsa0028031 | Liver | Cirrhotic | Valine, leucine and isoleucine degradation | 32/2530 | 48/8465 | 1.45e-07 | 2.02e-06 | 1.24e-06 | 32 |
hsa006503 | Liver | Cirrhotic | Butanoate metabolism | 15/2530 | 27/8465 | 4.71e-03 | 1.74e-02 | 1.07e-02 | 15 |
hsa0332031 | Liver | Cirrhotic | PPAR signaling pathway | 32/2530 | 75/8465 | 1.24e-02 | 3.92e-02 | 2.42e-02 | 32 |
hsa0028041 | Liver | HCC | Valine, leucine and isoleucine degradation | 41/4020 | 48/8465 | 4.84e-08 | 7.05e-07 | 3.92e-07 | 41 |
hsa033204 | Liver | HCC | PPAR signaling pathway | 48/4020 | 75/8465 | 2.83e-03 | 9.37e-03 | 5.21e-03 | 48 |
hsa00900 | Liver | HCC | Terpenoid backbone biosynthesis | 17/4020 | 23/8465 | 9.26e-03 | 2.46e-02 | 1.37e-02 | 17 |
hsa006504 | Liver | HCC | Butanoate metabolism | 19/4020 | 27/8465 | 1.37e-02 | 3.33e-02 | 1.85e-02 | 19 |
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 |
HMGCS2 | SNV | Missense_Mutation | | c.1144N>C | p.Tyr382His | p.Y382H | P54868 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HMGCS2 | SNV | Missense_Mutation | rs770800317 | c.1355G>A | p.Arg452Gln | p.R452Q | P54868 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HMGCS2 | SNV | Missense_Mutation | | c.1058N>T | p.Asp353Val | p.D353V | P54868 | protein_coding | deleterious(0) | benign(0.204) | TCGA-AN-A0XU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HMGCS2 | SNV | Missense_Mutation | | c.35T>C | p.Leu12Pro | p.L12P | P54868 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.65) | TCGA-B6-A0I6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
HMGCS2 | SNV | Missense_Mutation | rs775277893 | c.1015G>A | p.Gly339Arg | p.G339R | P54868 | protein_coding | tolerated(1) | benign(0.001) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HMGCS2 | SNV | Missense_Mutation | novel | c.1392N>A | p.Met464Ile | p.M464I | P54868 | protein_coding | tolerated(0.25) | possibly_damaging(0.514) | TCGA-JW-A5VJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
HMGCS2 | SNV | Missense_Mutation | | c.74N>A | p.Pro25His | p.P25H | P54868 | protein_coding | deleterious_low_confidence(0.02) | benign(0.436) | TCGA-VS-A9UJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
HMGCS2 | SNV | Missense_Mutation | rs61729865 | c.1342N>T | p.Arg448Cys | p.R448C | P54868 | protein_coding | deleterious(0.04) | probably_damaging(0.988) | TCGA-AA-3713-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | 5-fluorouracil | PR |
HMGCS2 | SNV | Missense_Mutation | | c.617N>A | p.Arg206His | p.R206H | P54868 | protein_coding | deleterious(0.03) | probably_damaging(0.986) | TCGA-AU-6004-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HMGCS2 | SNV | Missense_Mutation | novel | c.1366N>C | p.Ser456Pro | p.S456P | P54868 | protein_coding | tolerated(0.27) | benign(0.005) | TCGA-AZ-6598-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |