GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0006091110 | Esophagus | ESCC | generation of precursor metabolites and energy | 331/8552 | 490/18723 | 3.86e-23 | 8.45e-21 | 331 |
GO:0015980110 | Esophagus | ESCC | energy derivation by oxidation of organic compounds | 220/8552 | 318/18723 | 1.20e-17 | 1.09e-15 | 220 |
GO:000648714 | Esophagus | ESCC | protein N-linked glycosylation | 51/8552 | 65/18723 | 6.41e-08 | 1.13e-06 | 51 |
GO:00091002 | Esophagus | ESCC | glycoprotein metabolic process | 226/8552 | 387/18723 | 2.64e-07 | 3.94e-06 | 226 |
GO:00700854 | Esophagus | ESCC | glycosylation | 144/8552 | 240/18723 | 5.12e-06 | 5.38e-05 | 144 |
GO:00064865 | Esophagus | ESCC | protein glycosylation | 135/8552 | 226/18723 | 1.36e-05 | 1.24e-04 | 135 |
GO:00434135 | Esophagus | ESCC | macromolecule glycosylation | 135/8552 | 226/18723 | 1.36e-05 | 1.24e-04 | 135 |
GO:00092256 | Esophagus | ESCC | nucleotide-sugar metabolic process | 29/8552 | 36/18723 | 1.91e-05 | 1.67e-04 | 29 |
GO:00091012 | Esophagus | ESCC | glycoprotein biosynthetic process | 181/8552 | 317/18723 | 2.54e-05 | 2.15e-04 | 181 |
GO:199082316 | Esophagus | ESCC | response to leukemia inhibitory factor | 60/8552 | 95/18723 | 4.41e-04 | 2.48e-03 | 60 |
GO:199083015 | Esophagus | ESCC | cellular response to leukemia inhibitory factor | 59/8552 | 94/18723 | 6.19e-04 | 3.32e-03 | 59 |
GO:00092262 | Esophagus | ESCC | nucleotide-sugar biosynthetic process | 14/8552 | 19/18723 | 1.27e-02 | 4.21e-02 | 14 |
GO:000609134 | Thyroid | ATC | generation of precursor metabolites and energy | 256/6293 | 490/18723 | 6.55e-18 | 7.69e-16 | 256 |
GO:001598034 | Thyroid | ATC | energy derivation by oxidation of organic compounds | 177/6293 | 318/18723 | 3.60e-16 | 2.92e-14 | 177 |
GO:000648715 | Thyroid | ATC | protein N-linked glycosylation | 38/6293 | 65/18723 | 3.39e-05 | 2.80e-04 | 38 |
GO:000922511 | Thyroid | ATC | nucleotide-sugar metabolic process | 24/6293 | 36/18723 | 5.10e-05 | 3.99e-04 | 24 |
GO:00060471 | Thyroid | ATC | UDP-N-acetylglucosamine metabolic process | 10/6293 | 14/18723 | 4.31e-03 | 1.80e-02 | 10 |
GO:199082318 | Thyroid | ATC | response to leukemia inhibitory factor | 44/6293 | 95/18723 | 6.74e-03 | 2.68e-02 | 44 |
GO:000648612 | Thyroid | ATC | protein glycosylation | 94/6293 | 226/18723 | 7.11e-03 | 2.82e-02 | 94 |
GO:004341312 | Thyroid | ATC | macromolecule glycosylation | 94/6293 | 226/18723 | 7.11e-03 | 2.82e-02 | 94 |
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 |
GFPT2 | SNV | Missense_Mutation | novel | c.347N>C | p.Val116Ala | p.V116A | O94808 | protein_coding | tolerated(0.06) | possibly_damaging(0.491) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
GFPT2 | SNV | Missense_Mutation | | c.433G>T | p.Asp145Tyr | p.D145Y | O94808 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
GFPT2 | SNV | Missense_Mutation | rs757899837 | c.127G>A | p.Asp43Asn | p.D43N | O94808 | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
GFPT2 | SNV | Missense_Mutation | novel | c.1090N>G | p.Ile364Val | p.I364V | O94808 | protein_coding | deleterious(0.05) | possibly_damaging(0.464) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GFPT2 | SNV | Missense_Mutation | | c.566N>A | p.Val189Asp | p.V189D | O94808 | protein_coding | tolerated(0.2) | benign(0.051) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GFPT2 | SNV | Missense_Mutation | novel | c.596N>T | p.Arg199Leu | p.R199L | O94808 | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
GFPT2 | SNV | Missense_Mutation | novel | c.44C>T | p.Thr15Met | p.T15M | O94808 | protein_coding | deleterious(0.01) | probably_damaging(0.954) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GFPT2 | SNV | Missense_Mutation | rs370818985 | c.142G>A | p.Glu48Lys | p.E48K | O94808 | protein_coding | tolerated(0.86) | benign(0.003) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GFPT2 | SNV | Missense_Mutation | | c.516G>T | p.Glu172Asp | p.E172D | O94808 | protein_coding | tolerated(0.14) | possibly_damaging(0.755) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GFPT2 | SNV | Missense_Mutation | | c.437N>T | p.Thr146Ile | p.T146I | O94808 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D1-A160-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |