GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00307055 | Liver | NAFLD | cytoskeleton-dependent intracellular transport | 33/1882 | 195/18723 | 1.98e-03 | 1.98e-02 | 33 |
GO:00162365 | Liver | NAFLD | macroautophagy | 45/1882 | 291/18723 | 2.31e-03 | 2.19e-02 | 45 |
GO:00109703 | Liver | NAFLD | transport along microtubule | 26/1882 | 155/18723 | 6.30e-03 | 4.69e-02 | 26 |
GO:001623611 | Liver | Cirrhotic | macroautophagy | 129/4634 | 291/18723 | 1.75e-13 | 1.41e-11 | 129 |
GO:00070332 | Liver | Cirrhotic | vacuole organization | 80/4634 | 180/18723 | 5.73e-09 | 2.25e-07 | 80 |
GO:0000045 | Liver | Cirrhotic | autophagosome assembly | 43/4634 | 99/18723 | 3.56e-05 | 4.32e-04 | 43 |
GO:1905037 | Liver | Cirrhotic | autophagosome organization | 44/4634 | 103/18723 | 4.74e-05 | 5.50e-04 | 44 |
GO:0044088 | Liver | Cirrhotic | regulation of vacuole organization | 23/4634 | 45/18723 | 1.23e-04 | 1.22e-03 | 23 |
GO:1902115 | Liver | Cirrhotic | regulation of organelle assembly | 66/4634 | 186/18723 | 6.66e-04 | 5.04e-03 | 66 |
GO:003070511 | Liver | Cirrhotic | cytoskeleton-dependent intracellular transport | 68/4634 | 195/18723 | 9.54e-04 | 6.77e-03 | 68 |
GO:0031503 | Liver | Cirrhotic | protein-containing complex localization | 75/4634 | 220/18723 | 1.13e-03 | 7.73e-03 | 75 |
GO:2000785 | Liver | Cirrhotic | regulation of autophagosome assembly | 18/4634 | 39/18723 | 2.93e-03 | 1.67e-02 | 18 |
GO:01200326 | Liver | Cirrhotic | regulation of plasma membrane bounded cell projection assembly | 63/4634 | 186/18723 | 3.16e-03 | 1.78e-02 | 63 |
GO:00604915 | Liver | Cirrhotic | regulation of cell projection assembly | 63/4634 | 188/18723 | 4.17e-03 | 2.22e-02 | 63 |
GO:00109701 | Liver | Cirrhotic | transport along microtubule | 52/4634 | 155/18723 | 8.42e-03 | 3.91e-02 | 52 |
GO:001623621 | Liver | HCC | macroautophagy | 204/7958 | 291/18723 | 8.66e-22 | 1.41e-19 | 204 |
GO:000703311 | Liver | HCC | vacuole organization | 119/7958 | 180/18723 | 1.22e-10 | 4.25e-09 | 119 |
GO:19050371 | Liver | HCC | autophagosome organization | 70/7958 | 103/18723 | 1.52e-07 | 2.82e-06 | 70 |
GO:00000451 | Liver | HCC | autophagosome assembly | 67/7958 | 99/18723 | 3.56e-07 | 6.07e-06 | 67 |
GO:00315031 | Liver | HCC | protein-containing complex localization | 129/7958 | 220/18723 | 9.38e-07 | 1.42e-05 | 129 |
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 |
IFT88 | SNV | Missense_Mutation | novel | c.2005N>A | p.Val669Ile | p.V669I | Q13099 | protein_coding | tolerated(0.67) | benign(0.028) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
IFT88 | SNV | Missense_Mutation | | c.767N>T | p.Arg256Ile | p.R256I | Q13099 | protein_coding | tolerated(0.05) | possibly_damaging(0.69) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IFT88 | SNV | Missense_Mutation | novel | c.847N>G | p.Ile283Val | p.I283V | Q13099 | protein_coding | tolerated(0.09) | probably_damaging(0.97) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IFT88 | SNV | Missense_Mutation | novel | c.1508N>C | p.Val503Ala | p.V503A | Q13099 | protein_coding | tolerated(0.67) | benign(0.197) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IFT88 | SNV | Missense_Mutation | | c.767G>T | p.Arg256Ile | p.R256I | Q13099 | protein_coding | tolerated(0.05) | possibly_damaging(0.69) | TCGA-AJ-A5DW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IFT88 | SNV | Missense_Mutation | | c.117N>T | p.Glu39Asp | p.E39D | Q13099 | protein_coding | tolerated(0.1) | probably_damaging(0.931) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IFT88 | SNV | Missense_Mutation | rs775253163 | c.989G>A | p.Arg330Gln | p.R330Q | Q13099 | protein_coding | deleterious(0.04) | benign(0.001) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IFT88 | SNV | Missense_Mutation | | c.1058N>G | p.Ile353Ser | p.I353S | Q13099 | protein_coding | tolerated(0.42) | benign(0.321) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IFT88 | SNV | Missense_Mutation | rs551160953 | c.1537N>A | p.Ala513Thr | p.A513T | Q13099 | protein_coding | tolerated(0.52) | benign(0.12) | TCGA-AP-A0LD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IFT88 | SNV | Missense_Mutation | novel | c.914N>G | p.Glu305Gly | p.E305G | Q13099 | protein_coding | deleterious(0.04) | probably_damaging(0.996) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |