GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0006091 | Colorectum | AD | generation of precursor metabolites and energy | 209/3918 | 490/18723 | 3.17e-28 | 6.61e-25 | 209 |
GO:0009150 | Colorectum | AD | purine ribonucleotide metabolic process | 142/3918 | 368/18723 | 4.29e-15 | 1.17e-12 | 142 |
GO:0006163 | Colorectum | AD | purine nucleotide metabolic process | 149/3918 | 396/18723 | 1.08e-14 | 2.80e-12 | 149 |
GO:0072521 | Colorectum | AD | purine-containing compound metabolic process | 153/3918 | 416/18723 | 4.34e-14 | 1.01e-11 | 153 |
GO:0009259 | Colorectum | AD | ribonucleotide metabolic process | 144/3918 | 385/18723 | 5.25e-14 | 1.13e-11 | 144 |
GO:0019693 | Colorectum | AD | ribose phosphate metabolic process | 145/3918 | 396/18723 | 3.01e-13 | 5.71e-11 | 145 |
GO:0009117 | Colorectum | AD | nucleotide metabolic process | 168/3918 | 489/18723 | 2.20e-12 | 3.36e-10 | 168 |
GO:0006753 | Colorectum | AD | nucleoside phosphate metabolic process | 169/3918 | 497/18723 | 4.99e-12 | 6.98e-10 | 169 |
GO:0006066 | Colorectum | AD | alcohol metabolic process | 106/3918 | 353/18723 | 3.02e-05 | 5.57e-04 | 106 |
GO:0006790 | Colorectum | AD | sulfur compound metabolic process | 101/3918 | 339/18723 | 6.46e-05 | 1.07e-03 | 101 |
GO:0033865 | Colorectum | AD | nucleoside bisphosphate metabolic process | 42/3918 | 128/18723 | 1.12e-03 | 1.02e-02 | 42 |
GO:0033875 | Colorectum | AD | ribonucleoside bisphosphate metabolic process | 42/3918 | 128/18723 | 1.12e-03 | 1.02e-02 | 42 |
GO:0034032 | Colorectum | AD | purine nucleoside bisphosphate metabolic process | 42/3918 | 128/18723 | 1.12e-03 | 1.02e-02 | 42 |
GO:0006644 | Colorectum | AD | phospholipid metabolic process | 101/3918 | 383/18723 | 5.80e-03 | 3.67e-02 | 101 |
GO:0008202 | Colorectum | AD | steroid metabolic process | 85/3918 | 319/18723 | 8.07e-03 | 4.75e-02 | 85 |
GO:00060911 | Colorectum | SER | generation of precursor metabolites and energy | 168/2897 | 490/18723 | 1.39e-25 | 1.70e-22 | 168 |
GO:00061631 | Colorectum | SER | purine nucleotide metabolic process | 109/2897 | 396/18723 | 4.26e-10 | 5.44e-08 | 109 |
GO:00091501 | Colorectum | SER | purine ribonucleotide metabolic process | 103/2897 | 368/18723 | 4.69e-10 | 5.68e-08 | 103 |
GO:00725211 | Colorectum | SER | purine-containing compound metabolic process | 113/2897 | 416/18723 | 4.80e-10 | 5.68e-08 | 113 |
GO:00092591 | Colorectum | SER | ribonucleotide metabolic process | 104/2897 | 385/18723 | 3.27e-09 | 3.04e-07 | 104 |
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 |