GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00481936 | Liver | NAFLD | Golgi vesicle transport | 66/1882 | 296/18723 | 3.66e-10 | 9.30e-08 | 66 |
GO:00071636 | Liver | NAFLD | establishment or maintenance of cell polarity | 46/1882 | 218/18723 | 8.80e-07 | 4.60e-05 | 46 |
GO:00300106 | Liver | NAFLD | establishment of cell polarity | 34/1882 | 143/18723 | 1.41e-06 | 6.56e-05 | 34 |
GO:0007030 | Liver | NAFLD | Golgi organization | 36/1882 | 157/18723 | 1.76e-06 | 7.68e-05 | 36 |
GO:00310326 | Liver | NAFLD | actomyosin structure organization | 41/1882 | 196/18723 | 4.26e-06 | 1.66e-04 | 41 |
GO:00512227 | Liver | NAFLD | positive regulation of protein transport | 55/1882 | 303/18723 | 1.07e-05 | 3.35e-04 | 55 |
GO:19049517 | Liver | NAFLD | positive regulation of establishment of protein localization | 55/1882 | 319/18723 | 4.79e-05 | 1.14e-03 | 55 |
GO:00069007 | Liver | NAFLD | vesicle budding from membrane | 17/1882 | 61/18723 | 7.31e-05 | 1.52e-03 | 17 |
GO:00160505 | Liver | NAFLD | vesicle organization | 50/1882 | 300/18723 | 2.42e-04 | 4.06e-03 | 50 |
GO:0090161 | Liver | NAFLD | Golgi ribbon formation | 6/1882 | 13/18723 | 9.41e-04 | 1.12e-02 | 6 |
GO:0050764 | Liver | NAFLD | regulation of phagocytosis | 19/1882 | 95/18723 | 2.61e-03 | 2.41e-02 | 19 |
GO:00355926 | Liver | NAFLD | establishment of protein localization to extracellular region | 52/1882 | 360/18723 | 4.80e-03 | 3.81e-02 | 52 |
GO:00507147 | Liver | NAFLD | positive regulation of protein secretion | 24/1882 | 137/18723 | 4.89e-03 | 3.85e-02 | 24 |
GO:0050766 | Liver | NAFLD | positive regulation of phagocytosis | 14/1882 | 66/18723 | 5.28e-03 | 4.08e-02 | 14 |
GO:00093066 | Liver | NAFLD | protein secretion | 51/1882 | 359/18723 | 7.17e-03 | 4.96e-02 | 51 |
GO:004819311 | Liver | Cirrhotic | Golgi vesicle transport | 153/4634 | 296/18723 | 1.02e-23 | 6.43e-21 | 153 |
GO:001605011 | Liver | Cirrhotic | vesicle organization | 133/4634 | 300/18723 | 7.35e-14 | 6.41e-12 | 133 |
GO:000690012 | Liver | Cirrhotic | vesicle budding from membrane | 41/4634 | 61/18723 | 3.12e-12 | 2.25e-10 | 41 |
GO:190495112 | Liver | Cirrhotic | positive regulation of establishment of protein localization | 135/4634 | 319/18723 | 3.20e-12 | 2.28e-10 | 135 |
GO:005122212 | Liver | Cirrhotic | positive regulation of protein transport | 126/4634 | 303/18723 | 6.85e-11 | 3.77e-09 | 126 |
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 |
MYO18A | SNV | Missense_Mutation | | c.148N>T | p.Arg50Cys | p.R50C | Q92614 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.996) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MYO18A | SNV | Missense_Mutation | rs757050642 | c.4888N>T | p.Arg1630Trp | p.R1630W | Q92614 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-D8-A1Y1-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | PD |
MYO18A | SNV | Missense_Mutation | | c.3643G>C | p.Asp1215His | p.D1215H | Q92614 | protein_coding | deleterious(0.05) | possibly_damaging(0.786) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MYO18A | SNV | Missense_Mutation | rs764644006 | c.6149N>T | p.Thr2050Met | p.T2050M | Q92614 | protein_coding | tolerated_low_confidence(0.14) | benign(0) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
MYO18A | insertion | Frame_Shift_Ins | novel | c.246_247insA | p.Ser83IlefsTer3 | p.S83Ifs*3 | Q92614 | protein_coding | | | TCGA-BH-A0BM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
MYO18A | deletion | Frame_Shift_Del | novel | c.2752delN | p.Leu918PhefsTer21 | p.L918Ffs*21 | Q92614 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
MYO18A | SNV | Missense_Mutation | rs771787983 | c.3656N>A | p.Arg1219His | p.R1219H | Q92614 | protein_coding | deleterious(0.04) | probably_damaging(0.973) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MYO18A | SNV | Missense_Mutation | | c.3497G>C | p.Gly1166Ala | p.G1166A | Q92614 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-DS-A0VN-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
MYO18A | SNV | Missense_Mutation | rs200860055 | c.4936N>T | p.Arg1646Trp | p.R1646W | Q92614 | protein_coding | deleterious(0) | probably_damaging(0.96) | TCGA-EA-A3HS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
MYO18A | SNV | Missense_Mutation | novel | c.3541G>A | p.Glu1181Lys | p.E1181K | Q92614 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-VS-A959-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |