GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0022411111 | Esophagus | ESCC | cellular component disassembly | 305/8552 | 443/18723 | 1.94e-23 | 4.57e-21 | 305 |
GO:0051098111 | Esophagus | ESCC | regulation of binding | 251/8552 | 363/18723 | 6.73e-20 | 8.46e-18 | 251 |
GO:003298416 | Esophagus | ESCC | protein-containing complex disassembly | 151/8552 | 224/18723 | 3.45e-11 | 1.15e-09 | 151 |
GO:004339320 | Esophagus | ESCC | regulation of protein binding | 135/8552 | 196/18723 | 3.69e-11 | 1.22e-09 | 135 |
GO:1902903111 | Esophagus | ESCC | regulation of supramolecular fiber organization | 237/8552 | 383/18723 | 9.06e-11 | 2.75e-09 | 237 |
GO:0010639110 | Esophagus | ESCC | negative regulation of organelle organization | 215/8552 | 348/18723 | 8.20e-10 | 2.01e-08 | 215 |
GO:0051100111 | Esophagus | ESCC | negative regulation of binding | 109/8552 | 162/18723 | 2.10e-08 | 4.03e-07 | 109 |
GO:00705078 | Esophagus | ESCC | regulation of microtubule cytoskeleton organization | 99/8552 | 148/18723 | 1.43e-07 | 2.29e-06 | 99 |
GO:00726985 | Esophagus | ESCC | protein localization to microtubule cytoskeleton | 43/8552 | 54/18723 | 3.28e-07 | 4.61e-06 | 43 |
GO:00443804 | Esophagus | ESCC | protein localization to cytoskeleton | 45/8552 | 58/18723 | 6.89e-07 | 8.99e-06 | 45 |
GO:00182099 | Esophagus | ESCC | peptidyl-serine modification | 196/8552 | 338/18723 | 3.07e-06 | 3.47e-05 | 196 |
GO:001810515 | Esophagus | ESCC | peptidyl-serine phosphorylation | 184/8552 | 315/18723 | 3.22e-06 | 3.61e-05 | 184 |
GO:003209116 | Esophagus | ESCC | negative regulation of protein binding | 65/8552 | 94/18723 | 3.46e-06 | 3.82e-05 | 65 |
GO:19038289 | Esophagus | ESCC | negative regulation of cellular protein localization | 76/8552 | 117/18723 | 1.97e-05 | 1.72e-04 | 76 |
GO:00311094 | Esophagus | ESCC | microtubule polymerization or depolymerization | 77/8552 | 122/18723 | 7.60e-05 | 5.68e-04 | 77 |
GO:00432446 | Esophagus | ESCC | regulation of protein-containing complex disassembly | 75/8552 | 121/18723 | 2.17e-04 | 1.36e-03 | 75 |
GO:00311104 | Esophagus | ESCC | regulation of microtubule polymerization or depolymerization | 57/8552 | 88/18723 | 2.32e-04 | 1.44e-03 | 57 |
GO:00328864 | Esophagus | ESCC | regulation of microtubule-based process | 134/8552 | 240/18723 | 9.44e-04 | 4.80e-03 | 134 |
GO:0035372 | Esophagus | ESCC | protein localization to microtubule | 15/8552 | 18/18723 | 1.20e-03 | 5.88e-03 | 15 |
GO:00436245 | Esophagus | ESCC | cellular protein complex disassembly | 78/8552 | 136/18723 | 4.00e-03 | 1.62e-02 | 78 |
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 |
TTBK2 | SNV | Missense_Mutation | | c.3049G>C | p.Glu1017Gln | p.E1017Q | Q6IQ55 | protein_coding | deleterious(0) | benign(0.107) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
TTBK2 | SNV | Missense_Mutation | | c.667N>A | p.Gln223Lys | p.Q223K | Q6IQ55 | protein_coding | deleterious(0.01) | probably_damaging(0.928) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
TTBK2 | SNV | Missense_Mutation | | c.1327N>G | p.Leu443Val | p.L443V | Q6IQ55 | protein_coding | deleterious(0) | possibly_damaging(0.841) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TTBK2 | SNV | Missense_Mutation | | c.2335N>C | p.Glu779Gln | p.E779Q | Q6IQ55 | protein_coding | tolerated_low_confidence(0.08) | benign(0.113) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
TTBK2 | SNV | Missense_Mutation | | c.1294N>G | p.Gln432Glu | p.Q432E | Q6IQ55 | protein_coding | tolerated(0.28) | possibly_damaging(0.474) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
TTBK2 | SNV | Missense_Mutation | novel | c.3452N>A | p.Pro1151His | p.P1151H | Q6IQ55 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.956) | TCGA-VS-A9UB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TTBK2 | SNV | Missense_Mutation | novel | c.778N>T | p.Asp260Tyr | p.D260Y | Q6IQ55 | protein_coding | deleterious(0) | possibly_damaging(0.696) | TCGA-VS-A9V2-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
TTBK2 | insertion | Frame_Shift_Ins | novel | c.239_240insCAGTATGA | p.Ile81SerfsTer152 | p.I81Sfs*152 | Q6IQ55 | protein_coding | | | TCGA-DS-A1OD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
TTBK2 | SNV | Missense_Mutation | | c.313N>T | p.Arg105Cys | p.R105C | Q6IQ55 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A6-6781-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | SD |
TTBK2 | SNV | Missense_Mutation | rs764164213 | c.2023N>T | p.Ala675Ser | p.A675S | Q6IQ55 | protein_coding | tolerated_low_confidence(0.17) | benign(0.138) | TCGA-AA-3966-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |