GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000599621 | Liver | HCC | monosaccharide metabolic process | 167/7958 | 257/18723 | 2.31e-13 | 1.25e-11 | 167 |
GO:001931821 | Liver | HCC | hexose metabolic process | 155/7958 | 237/18723 | 7.63e-13 | 3.90e-11 | 155 |
GO:000600621 | Liver | HCC | glucose metabolic process | 128/7958 | 196/18723 | 8.60e-11 | 3.06e-09 | 128 |
GO:003103222 | Liver | HCC | actomyosin structure organization | 109/7958 | 196/18723 | 1.39e-04 | 1.13e-03 | 109 |
GO:003103216 | Prostate | Tumor | actomyosin structure organization | 63/3246 | 196/18723 | 2.94e-07 | 6.72e-06 | 63 |
GO:006053714 | Prostate | Tumor | muscle tissue development | 107/3246 | 403/18723 | 1.93e-06 | 3.34e-05 | 107 |
GO:001470613 | Prostate | Tumor | striated muscle tissue development | 98/3246 | 384/18723 | 2.96e-05 | 3.56e-04 | 98 |
GO:000600613 | Prostate | Tumor | glucose metabolic process | 55/3246 | 196/18723 | 1.22e-04 | 1.14e-03 | 55 |
GO:004269213 | Prostate | Tumor | muscle cell differentiation | 93/3246 | 384/18723 | 3.45e-04 | 2.73e-03 | 93 |
GO:005114614 | Prostate | Tumor | striated muscle cell differentiation | 69/3246 | 283/18723 | 1.56e-03 | 9.54e-03 | 69 |
GO:00193187 | Prostate | Tumor | hexose metabolic process | 59/3246 | 237/18723 | 1.96e-03 | 1.14e-02 | 59 |
GO:00059967 | Prostate | Tumor | monosaccharide metabolic process | 62/3246 | 257/18723 | 3.38e-03 | 1.75e-02 | 62 |
GO:00550011 | Prostate | Tumor | muscle cell development | 45/3246 | 184/18723 | 8.73e-03 | 3.78e-02 | 45 |
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 |
PGM5 | SNV | Missense_Mutation | novel | c.518N>G | p.Ser173Cys | p.S173C | Q15124 | protein_coding | deleterious(0.01) | possibly_damaging(0.765) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
PGM5 | SNV | Missense_Mutation | novel | c.64N>T | p.Ala22Ser | p.A22S | Q15124 | protein_coding | tolerated(0.23) | benign(0.005) | TCGA-A7-A425-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | adriamycin | PD |
PGM5 | SNV | Missense_Mutation | | c.971N>A | p.Cys324Tyr | p.C324Y | Q15124 | protein_coding | tolerated(0.1) | probably_damaging(0.934) | TCGA-A8-A07L-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | | CR |
PGM5 | SNV | Missense_Mutation | novel | c.1315G>A | p.Asp439Asn | p.D439N | Q15124 | protein_coding | deleterious(0.03) | possibly_damaging(0.603) | TCGA-AN-A0AM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PGM5 | SNV | Missense_Mutation | | c.746C>T | p.Pro249Leu | p.P249L | Q15124 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-B6-A1KF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PGM5 | SNV | Missense_Mutation | rs141668530 | c.1124N>A | p.Arg375His | p.R375H | Q15124 | protein_coding | deleterious(0.01) | probably_damaging(0.938) | TCGA-D8-A1X9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | adriamycin+cyclophosphamide | SD |
PGM5 | SNV | Missense_Mutation | | c.1098N>G | p.Phe366Leu | p.F366L | Q15124 | protein_coding | deleterious(0) | possibly_damaging(0.566) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PGM5 | SNV | Missense_Mutation | | c.371N>T | p.Cys124Phe | p.C124F | Q15124 | protein_coding | deleterious(0) | possibly_damaging(0.516) | TCGA-E2-A154-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
PGM5 | SNV | Missense_Mutation | | c.1640N>C | p.Ile547Thr | p.I547T | Q15124 | protein_coding | deleterious(0.04) | probably_damaging(0.968) | TCGA-EW-A1IZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
PGM5 | insertion | Frame_Shift_Ins | novel | c.1115_1116insATTTGGGGTTTGTGAAAAGGGAGGTGTTCAC | p.Asp372GlufsTer28 | p.D372Efs*28 | Q15124 | protein_coding | | | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | | SD |