GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00725214 | Colorectum | FAP | purine-containing compound metabolic process | 101/2622 | 416/18723 | 1.11e-08 | 1.33e-06 | 101 |
GO:00196933 | Colorectum | FAP | ribose phosphate metabolic process | 97/2622 | 396/18723 | 1.35e-08 | 1.51e-06 | 97 |
GO:00091174 | Colorectum | FAP | nucleotide metabolic process | 105/2622 | 489/18723 | 3.52e-06 | 1.25e-04 | 105 |
GO:00067534 | Colorectum | FAP | nucleoside phosphate metabolic process | 105/2622 | 497/18723 | 7.47e-06 | 2.25e-04 | 105 |
GO:0008654 | Colorectum | FAP | phospholipid biosynthetic process | 54/2622 | 253/18723 | 8.88e-04 | 9.08e-03 | 54 |
GO:00066442 | Colorectum | FAP | phospholipid metabolic process | 74/2622 | 383/18723 | 2.24e-03 | 1.83e-02 | 74 |
GO:00060663 | Colorectum | FAP | alcohol metabolic process | 69/2622 | 353/18723 | 2.29e-03 | 1.85e-02 | 69 |
GO:00091505 | Colorectum | CRC | purine ribonucleotide metabolic process | 74/2078 | 368/18723 | 2.58e-07 | 2.38e-05 | 74 |
GO:00061635 | Colorectum | CRC | purine nucleotide metabolic process | 78/2078 | 396/18723 | 2.98e-07 | 2.59e-05 | 78 |
GO:00092594 | Colorectum | CRC | ribonucleotide metabolic process | 75/2078 | 385/18723 | 7.83e-07 | 5.04e-05 | 75 |
GO:00725215 | Colorectum | CRC | purine-containing compound metabolic process | 79/2078 | 416/18723 | 1.15e-06 | 6.75e-05 | 79 |
GO:00196934 | Colorectum | CRC | ribose phosphate metabolic process | 75/2078 | 396/18723 | 2.36e-06 | 1.13e-04 | 75 |
GO:00086541 | Colorectum | CRC | phospholipid biosynthetic process | 49/2078 | 253/18723 | 7.07e-05 | 1.51e-03 | 49 |
GO:00091175 | Colorectum | CRC | nucleotide metabolic process | 81/2078 | 489/18723 | 1.45e-04 | 2.65e-03 | 81 |
GO:00067535 | Colorectum | CRC | nucleoside phosphate metabolic process | 81/2078 | 497/18723 | 2.48e-04 | 4.06e-03 | 81 |
GO:00060915 | Colorectum | CRC | generation of precursor metabolites and energy | 80/2078 | 490/18723 | 2.55e-04 | 4.16e-03 | 80 |
GO:00066443 | Colorectum | CRC | phospholipid metabolic process | 65/2078 | 383/18723 | 3.21e-04 | 4.95e-03 | 65 |
GO:00060664 | Colorectum | CRC | alcohol metabolic process | 57/2078 | 353/18723 | 2.37e-03 | 2.27e-02 | 57 |
GO:00082023 | Liver | NAFLD | steroid metabolic process | 69/1882 | 319/18723 | 5.90e-10 | 1.28e-07 | 69 |
GO:00092596 | Liver | NAFLD | ribonucleotide metabolic process | 72/1882 | 385/18723 | 1.51e-07 | 1.09e-05 | 72 |
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 |