GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0045862111 | Esophagus | ESCC | positive regulation of proteolysis | 256/8552 | 372/18723 | 7.88e-20 | 9.43e-18 | 256 |
GO:001619715 | Esophagus | ESCC | endosomal transport | 168/8552 | 230/18723 | 2.28e-17 | 1.93e-15 | 168 |
GO:001648210 | Esophagus | ESCC | cytosolic transport | 124/8552 | 168/18723 | 9.69e-14 | 4.69e-12 | 124 |
GO:2000116111 | Esophagus | ESCC | regulation of cysteine-type endopeptidase activity | 158/8552 | 235/18723 | 1.67e-11 | 5.90e-10 | 158 |
GO:005160418 | Esophagus | ESCC | protein maturation | 189/8552 | 294/18723 | 7.64e-11 | 2.39e-09 | 189 |
GO:0010952111 | Esophagus | ESCC | positive regulation of peptidase activity | 133/8552 | 197/18723 | 4.31e-10 | 1.14e-08 | 133 |
GO:0052547111 | Esophagus | ESCC | regulation of peptidase activity | 275/8552 | 461/18723 | 7.54e-10 | 1.88e-08 | 275 |
GO:0052548111 | Esophagus | ESCC | regulation of endopeptidase activity | 253/8552 | 432/18723 | 3.68e-08 | 6.78e-07 | 253 |
GO:0010950111 | Esophagus | ESCC | positive regulation of endopeptidase activity | 116/8552 | 179/18723 | 1.77e-07 | 2.79e-06 | 116 |
GO:00421477 | Esophagus | ESCC | retrograde transport, endosome to Golgi | 63/8552 | 91/18723 | 4.58e-06 | 4.87e-05 | 63 |
GO:2001056110 | Esophagus | ESCC | positive regulation of cysteine-type endopeptidase activity | 94/8552 | 148/18723 | 8.87e-06 | 8.59e-05 | 94 |
GO:001648514 | Esophagus | ESCC | protein processing | 134/8552 | 225/18723 | 1.81e-05 | 1.60e-04 | 134 |
GO:004308715 | Esophagus | ESCC | regulation of GTPase activity | 183/8552 | 348/18723 | 5.34e-03 | 2.00e-02 | 183 |
GO:004586220 | Oral cavity | OSCC | positive regulation of proteolysis | 236/7305 | 372/18723 | 6.53e-22 | 1.38e-19 | 236 |
GO:200011620 | Oral cavity | OSCC | regulation of cysteine-type endopeptidase activity | 152/7305 | 235/18723 | 1.14e-15 | 8.13e-14 | 152 |
GO:005254720 | Oral cavity | OSCC | regulation of peptidase activity | 255/7305 | 461/18723 | 5.78e-13 | 2.75e-11 | 255 |
GO:00161979 | Oral cavity | OSCC | endosomal transport | 141/7305 | 230/18723 | 5.40e-12 | 2.06e-10 | 141 |
GO:001095220 | Oral cavity | OSCC | positive regulation of peptidase activity | 123/7305 | 197/18723 | 2.12e-11 | 7.21e-10 | 123 |
GO:005160410 | Oral cavity | OSCC | protein maturation | 170/7305 | 294/18723 | 3.97e-11 | 1.28e-09 | 170 |
GO:005254820 | Oral cavity | OSCC | regulation of endopeptidase activity | 235/7305 | 432/18723 | 4.35e-11 | 1.40e-09 | 235 |
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 |
TBC1D10A | SNV | Missense_Mutation | rs375338376 | c.1109G>A | p.Arg370His | p.R370H | Q9BXI6 | protein_coding | deleterious(0.03) | benign(0.071) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TBC1D10A | SNV | Missense_Mutation | rs138242222 | c.158G>A | p.Arg53His | p.R53H | Q9BXI6 | protein_coding | deleterious(0.03) | benign(0.001) | TCGA-BH-A18P-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
TBC1D10A | SNV | Missense_Mutation | rs765679285 | c.325N>C | p.Lys109Gln | p.K109Q | Q9BXI6 | protein_coding | tolerated(0.25) | benign(0.118) | TCGA-C8-A26X-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
TBC1D10A | SNV | Missense_Mutation | rs749302364 | c.236A>G | p.Glu79Gly | p.E79G | Q9BXI6 | protein_coding | tolerated(0.31) | benign(0.009) | TCGA-D8-A1XF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin+cyclophosphamide | SD |
TBC1D10A | insertion | Nonsense_Mutation | novel | c.1516_1517insAGTCCCTGGTCAGCCCCCATTCTTAAC | p.Thr506delinsLysSerLeuValSerProHisSerTerPro | p.T506delinsKSLVSPHS*P | Q9BXI6 | protein_coding | | | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
TBC1D10A | deletion | Frame_Shift_Del | | c.960delC | p.His320GlnfsTer44 | p.H320Qfs*44 | Q9BXI6 | protein_coding | | | TCGA-LL-A6FR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
TBC1D10A | SNV | Missense_Mutation | rs368312026 | c.1096N>T | p.Arg366Cys | p.R366C | Q9BXI6 | protein_coding | deleterious(0) | possibly_damaging(0.462) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TBC1D10A | SNV | Missense_Mutation | rs201955996 | c.1166N>A | p.Arg389His | p.R389H | Q9BXI6 | protein_coding | tolerated(0.05) | benign(0.001) | TCGA-BI-A0VR-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
TBC1D10A | SNV | Missense_Mutation | novel | c.1531G>A | p.Glu511Lys | p.E511K | Q9BXI6 | protein_coding | deleterious_low_confidence(0.02) | possibly_damaging(0.696) | TCGA-C5-A8XH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
TBC1D10A | SNV | Missense_Mutation | novel | c.502N>A | p.Gln168Lys | p.Q168K | Q9BXI6 | protein_coding | deleterious(0) | probably_damaging(0.965) | TCGA-C5-A905-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |