GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004819318 | Esophagus | ESCC | Golgi vesicle transport | 231/8552 | 296/18723 | 1.82e-30 | 9.63e-28 | 231 |
GO:001619715 | Esophagus | ESCC | endosomal transport | 168/8552 | 230/18723 | 2.28e-17 | 1.93e-15 | 168 |
GO:0090150110 | Esophagus | ESCC | establishment of protein localization to membrane | 182/8552 | 260/18723 | 1.27e-15 | 8.19e-14 | 182 |
GO:0072659110 | Esophagus | ESCC | protein localization to plasma membrane | 193/8552 | 284/18723 | 1.95e-14 | 1.03e-12 | 193 |
GO:001648210 | Esophagus | ESCC | cytosolic transport | 124/8552 | 168/18723 | 9.69e-14 | 4.69e-12 | 124 |
GO:199077819 | Esophagus | ESCC | protein localization to cell periphery | 217/8552 | 333/18723 | 4.08e-13 | 1.88e-11 | 217 |
GO:000689215 | Esophagus | ESCC | post-Golgi vesicle-mediated transport | 82/8552 | 104/18723 | 4.00e-12 | 1.55e-10 | 82 |
GO:009887615 | Esophagus | ESCC | vesicle-mediated transport to the plasma membrane | 99/8552 | 136/18723 | 1.13e-10 | 3.39e-09 | 99 |
GO:000689315 | Esophagus | ESCC | Golgi to plasma membrane transport | 48/8552 | 60/18723 | 5.11e-08 | 9.16e-07 | 48 |
GO:004300114 | Esophagus | ESCC | Golgi to plasma membrane protein transport | 34/8552 | 40/18723 | 3.00e-07 | 4.27e-06 | 34 |
GO:00421477 | Esophagus | ESCC | retrograde transport, endosome to Golgi | 63/8552 | 91/18723 | 4.58e-06 | 4.87e-05 | 63 |
GO:006195114 | Esophagus | ESCC | establishment of protein localization to plasma membrane | 44/8552 | 60/18723 | 1.25e-05 | 1.15e-04 | 44 |
GO:004819311 | Liver | Cirrhotic | Golgi vesicle transport | 153/4634 | 296/18723 | 1.02e-23 | 6.43e-21 | 153 |
GO:00901507 | Liver | Cirrhotic | establishment of protein localization to membrane | 123/4634 | 260/18723 | 1.85e-15 | 2.15e-13 | 123 |
GO:199077811 | Liver | Cirrhotic | protein localization to cell periphery | 135/4634 | 333/18723 | 1.18e-10 | 6.21e-09 | 135 |
GO:007265911 | Liver | Cirrhotic | protein localization to plasma membrane | 119/4634 | 284/18723 | 1.30e-10 | 6.80e-09 | 119 |
GO:004300111 | Liver | Cirrhotic | Golgi to plasma membrane protein transport | 27/4634 | 40/18723 | 1.43e-08 | 5.36e-07 | 27 |
GO:001648211 | Liver | Cirrhotic | cytosolic transport | 74/4634 | 168/18723 | 3.34e-08 | 1.12e-06 | 74 |
GO:000689211 | Liver | Cirrhotic | post-Golgi vesicle-mediated transport | 51/4634 | 104/18723 | 7.12e-08 | 2.15e-06 | 51 |
GO:001619711 | Liver | Cirrhotic | endosomal transport | 93/4634 | 230/18723 | 1.01e-07 | 2.93e-06 | 93 |
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 |
PREPL | SNV | Missense_Mutation | | c.1303G>C | p.Asp435His | p.D435H | Q4J6C6 | protein_coding | tolerated(0.15) | benign(0.04) | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
PREPL | SNV | Missense_Mutation | rs749766335 | c.961G>A | p.Glu321Lys | p.E321K | Q4J6C6 | protein_coding | deleterious(0.01) | probably_damaging(0.967) | TCGA-A8-A08R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PREPL | SNV | Missense_Mutation | rs759701052 | c.241G>A | p.Glu81Lys | p.E81K | Q4J6C6 | protein_coding | tolerated(0.35) | benign(0.028) | TCGA-A8-A08R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PREPL | SNV | Missense_Mutation | | c.2048N>T | p.Asp683Val | p.D683V | Q4J6C6 | protein_coding | deleterious(0) | probably_damaging(0.971) | TCGA-AO-A03T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
PREPL | SNV | Missense_Mutation | | c.697N>C | p.Ala233Pro | p.A233P | Q4J6C6 | protein_coding | tolerated(0.14) | possibly_damaging(0.805) | TCGA-AR-A251-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
PREPL | SNV | Missense_Mutation | | c.988N>C | p.Asp330His | p.D330H | Q4J6C6 | protein_coding | tolerated(0.13) | possibly_damaging(0.906) | TCGA-D8-A13Y-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
PREPL | SNV | Missense_Mutation | | c.1477N>C | p.Glu493Gln | p.E493Q | Q4J6C6 | protein_coding | deleterious(0.04) | probably_damaging(0.989) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
PREPL | SNV | Missense_Mutation | | c.461N>G | p.Asp154Gly | p.D154G | Q4J6C6 | protein_coding | tolerated(0.6) | benign(0) | TCGA-E2-A1B5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
PREPL | insertion | Nonsense_Mutation | novel | c.542_543insCAAATTATTATCTAGAATAAATTTTTACACGTAAGT | p.Ala181_Ser182insLysLeuLeuSerArgIleAsnPheTyrThrTerVal | p.A181_S182insKLLSRINFYT*V | Q4J6C6 | protein_coding | | | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
PREPL | insertion | Frame_Shift_Ins | novel | c.1241_1242insATTTA | p.Pro415PhefsTer34 | p.P415Ffs*34 | Q4J6C6 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |