GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005165617 | Esophagus | ESCC | establishment of organelle localization | 273/8552 | 390/18723 | 9.13e-23 | 1.81e-20 | 273 |
GO:005165016 | Esophagus | ESCC | establishment of vesicle localization | 114/8552 | 161/18723 | 8.20e-11 | 2.53e-09 | 114 |
GO:003070518 | Esophagus | ESCC | cytoskeleton-dependent intracellular transport | 133/8552 | 195/18723 | 1.48e-10 | 4.27e-09 | 133 |
GO:005164815 | Esophagus | ESCC | vesicle localization | 119/8552 | 177/18723 | 5.16e-09 | 1.08e-07 | 119 |
GO:00995185 | Esophagus | ESCC | vesicle cytoskeletal trafficking | 50/8552 | 73/18723 | 6.75e-05 | 5.12e-04 | 50 |
GO:000930617 | Esophagus | ESCC | protein secretion | 190/8552 | 359/18723 | 3.22e-03 | 1.34e-02 | 190 |
GO:003559217 | Esophagus | ESCC | establishment of protein localization to extracellular region | 190/8552 | 360/18723 | 3.77e-03 | 1.53e-02 | 190 |
GO:007169210 | Esophagus | ESCC | protein localization to extracellular region | 193/8552 | 368/18723 | 5.01e-03 | 1.92e-02 | 193 |
GO:0009743111 | Esophagus | ESCC | response to carbohydrate | 135/8552 | 253/18723 | 8.16e-03 | 2.89e-02 | 135 |
GO:00097437 | Liver | NAFLD | response to carbohydrate | 45/1882 | 253/18723 | 1.07e-04 | 2.11e-03 | 45 |
GO:00425936 | Liver | NAFLD | glucose homeostasis | 45/1882 | 258/18723 | 1.71e-04 | 3.08e-03 | 45 |
GO:00335006 | Liver | NAFLD | carbohydrate homeostasis | 45/1882 | 259/18723 | 1.87e-04 | 3.29e-03 | 45 |
GO:00342847 | Liver | NAFLD | response to monosaccharide | 37/1882 | 225/18723 | 1.86e-03 | 1.91e-02 | 37 |
GO:00307055 | Liver | NAFLD | cytoskeleton-dependent intracellular transport | 33/1882 | 195/18723 | 1.98e-03 | 1.98e-02 | 33 |
GO:00097467 | Liver | NAFLD | response to hexose | 36/1882 | 219/18723 | 2.14e-03 | 2.08e-02 | 36 |
GO:00516565 | Liver | NAFLD | establishment of organelle localization | 57/1882 | 390/18723 | 2.52e-03 | 2.34e-02 | 57 |
GO:00516485 | Liver | NAFLD | vesicle localization | 30/1882 | 177/18723 | 3.01e-03 | 2.72e-02 | 30 |
GO:00355926 | Liver | NAFLD | establishment of protein localization to extracellular region | 52/1882 | 360/18723 | 4.80e-03 | 3.81e-02 | 52 |
GO:00516505 | Liver | NAFLD | establishment of vesicle localization | 27/1882 | 161/18723 | 5.47e-03 | 4.20e-02 | 27 |
GO:00016786 | Liver | NAFLD | cellular glucose homeostasis | 28/1882 | 172/18723 | 7.15e-03 | 4.96e-02 | 28 |
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 |
CCDC18 | SNV | Missense_Mutation | novel | c.873T>G | p.Cys291Trp | p.C291W | Q5T9S5 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AR-A2LR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
CCDC18 | SNV | Missense_Mutation | | c.3733N>G | p.Gln1245Glu | p.Q1245E | Q5T9S5 | protein_coding | deleterious(0.01) | probably_damaging(0.969) | TCGA-GM-A2DL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR |
CCDC18 | insertion | Frame_Shift_Ins | novel | c.4356_4357insT | p.Asn1453Ter | p.N1453* | Q5T9S5 | protein_coding | | | TCGA-AN-A0FS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CCDC18 | insertion | Nonsense_Mutation | novel | c.4358_4359insCAGATAGAATAATTTCTTACTCTGTAGGT | p.Val1454ArgfsTer2 | p.V1454Rfs*2 | Q5T9S5 | protein_coding | | | TCGA-AN-A0FS-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CCDC18 | deletion | Frame_Shift_Del | | c.2939delN | p.Lys981AsnfsTer5 | p.K981Nfs*5 | Q5T9S5 | protein_coding | | | TCGA-BH-A0HA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CCDC18 | SNV | Missense_Mutation | novel | c.2661A>G | p.Ile887Met | p.I887M | Q5T9S5 | protein_coding | deleterious(0.01) | possibly_damaging(0.592) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CCDC18 | SNV | Missense_Mutation | novel | c.97N>A | p.Glu33Lys | p.E33K | Q5T9S5 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-C5-A1MF-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
CCDC18 | SNV | Missense_Mutation | novel | c.2991N>T | p.Met997Ile | p.M997I | Q5T9S5 | protein_coding | tolerated(0.19) | benign(0.007) | TCGA-C5-A1MF-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
CCDC18 | SNV | Missense_Mutation | novel | c.3727N>A | p.Asp1243Asn | p.D1243N | Q5T9S5 | protein_coding | deleterious(0.02) | benign(0.429) | TCGA-HM-A4S6-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
CCDC18 | SNV | Missense_Mutation | novel | c.1219N>A | p.Glu407Lys | p.E407K | Q5T9S5 | protein_coding | tolerated(0.28) | benign(0.23) | TCGA-VS-A959-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |