GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0006457110 | Esophagus | ESCC | protein folding | 163/8552 | 212/18723 | 1.13e-20 | 1.74e-18 | 163 |
GO:00059969 | Esophagus | ESCC | monosaccharide metabolic process | 159/8552 | 257/18723 | 1.11e-07 | 1.81e-06 | 159 |
GO:00193189 | Esophagus | ESCC | hexose metabolic process | 147/8552 | 237/18723 | 2.63e-07 | 3.94e-06 | 147 |
GO:00091002 | Esophagus | ESCC | glycoprotein metabolic process | 226/8552 | 387/18723 | 2.64e-07 | 3.94e-06 | 226 |
GO:00073698 | Esophagus | ESCC | gastrulation | 115/8552 | 185/18723 | 4.35e-06 | 4.64e-05 | 115 |
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:00091012 | Esophagus | ESCC | glycoprotein biosynthetic process | 181/8552 | 317/18723 | 2.54e-05 | 2.15e-04 | 181 |
GO:19033324 | Esophagus | ESCC | regulation of protein folding | 12/8552 | 12/18723 | 8.21e-05 | 6.01e-04 | 12 |
GO:00018378 | Esophagus | ESCC | epithelial to mesenchymal transition | 95/8552 | 157/18723 | 1.25e-04 | 8.56e-04 | 95 |
GO:00017044 | Esophagus | ESCC | formation of primary germ layer | 75/8552 | 121/18723 | 2.17e-04 | 1.36e-03 | 75 |
GO:00487628 | Esophagus | ESCC | mesenchymal cell differentiation | 133/8552 | 236/18723 | 5.94e-04 | 3.22e-03 | 133 |
GO:00107174 | Esophagus | ESCC | regulation of epithelial to mesenchymal transition | 61/8552 | 99/18723 | 1.01e-03 | 5.09e-03 | 61 |
GO:00604856 | Esophagus | ESCC | mesenchyme development | 156/8552 | 291/18723 | 3.76e-03 | 1.53e-02 | 156 |
GO:00064931 | Esophagus | ESCC | protein O-linked glycosylation | 51/8552 | 86/18723 | 7.54e-03 | 2.70e-02 | 51 |
GO:000645712 | Liver | HCC | protein folding | 160/7958 | 212/18723 | 1.07e-22 | 1.88e-20 | 160 |
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:00064862 | Liver | HCC | protein glycosylation | 122/7958 | 226/18723 | 3.11e-04 | 2.21e-03 | 122 |
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 |
POFUT2 | SNV | Missense_Mutation | rs376315643 | c.713N>A | p.Arg238His | p.R238H | Q9Y2G5 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
POFUT2 | SNV | Missense_Mutation | rs765369694 | c.608C>T | p.Ala203Val | p.A203V | Q9Y2G5 | protein_coding | tolerated(0.08) | benign(0.152) | TCGA-A5-A0VP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
POFUT2 | SNV | Missense_Mutation | rs376315643 | c.713G>A | p.Arg238His | p.R238H | Q9Y2G5 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
POFUT2 | SNV | Missense_Mutation | novel | c.634G>A | p.Ala212Thr | p.A212T | Q9Y2G5 | protein_coding | deleterious(0.05) | possibly_damaging(0.735) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
POFUT2 | SNV | Missense_Mutation | novel | c.549N>T | p.Glu183Asp | p.E183D | Q9Y2G5 | protein_coding | tolerated(0.09) | benign(0.015) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
POFUT2 | SNV | Missense_Mutation | novel | c.1248N>T | p.Glu416Asp | p.E416D | Q9Y2G5 | protein_coding | tolerated(0.22) | possibly_damaging(0.629) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
POFUT2 | SNV | Missense_Mutation | rs560306914 | c.676N>A | p.Asp226Asn | p.D226N | Q9Y2G5 | protein_coding | deleterious(0.01) | possibly_damaging(0.842) | TCGA-AX-A05S-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unspecific | Carboplatin & Paclitaxel | PD |
POFUT2 | SNV | Missense_Mutation | | c.889N>T | p.Asp297Tyr | p.D297Y | Q9Y2G5 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
POFUT2 | SNV | Missense_Mutation | novel | c.215N>T | p.Thr72Ile | p.T72I | Q9Y2G5 | protein_coding | tolerated(0.25) | benign(0.018) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
POFUT2 | SNV | Missense_Mutation | rs754173879 | c.1253C>T | p.Ala418Val | p.A418V | Q9Y2G5 | protein_coding | tolerated(0.28) | benign(0.045) | TCGA-AX-A2HJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |