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:0042176111 | Esophagus | ESCC | regulation of protein catabolic process | 280/8552 | 391/18723 | 8.65e-26 | 2.39e-23 | 280 |
GO:0009896111 | Esophagus | ESCC | positive regulation of catabolic process | 332/8552 | 492/18723 | 4.36e-23 | 9.22e-21 | 332 |
GO:0031331111 | Esophagus | ESCC | positive regulation of cellular catabolic process | 292/8552 | 427/18723 | 8.67e-22 | 1.53e-19 | 292 |
GO:1903362111 | Esophagus | ESCC | regulation of cellular protein catabolic process | 188/8552 | 255/18723 | 5.12e-20 | 6.62e-18 | 188 |
GO:0045862111 | Esophagus | ESCC | positive regulation of proteolysis | 256/8552 | 372/18723 | 7.88e-20 | 9.43e-18 | 256 |
GO:1903050111 | Esophagus | ESCC | regulation of proteolysis involved in cellular protein catabolic process | 163/8552 | 221/18723 | 1.44e-17 | 1.27e-15 | 163 |
GO:001619715 | Esophagus | ESCC | endosomal transport | 168/8552 | 230/18723 | 2.28e-17 | 1.93e-15 | 168 |
GO:0045732111 | Esophagus | ESCC | positive regulation of protein catabolic process | 167/8552 | 231/18723 | 1.47e-16 | 1.14e-14 | 167 |
GO:2000058111 | Esophagus | ESCC | regulation of ubiquitin-dependent protein catabolic process | 125/8552 | 164/18723 | 1.17e-15 | 7.76e-14 | 125 |
GO:1903364111 | Esophagus | ESCC | positive regulation of cellular protein catabolic process | 117/8552 | 155/18723 | 3.25e-14 | 1.66e-12 | 117 |
GO:1903052110 | Esophagus | ESCC | positive regulation of proteolysis involved in cellular protein catabolic process | 101/8552 | 133/18723 | 9.58e-13 | 4.19e-11 | 101 |
GO:004312318 | Esophagus | ESCC | positive regulation of I-kappaB kinase/NF-kappaB signaling | 132/8552 | 186/18723 | 2.07e-12 | 8.58e-11 | 132 |
GO:000689215 | Esophagus | ESCC | post-Golgi vesicle-mediated transport | 82/8552 | 104/18723 | 4.00e-12 | 1.55e-10 | 82 |
GO:0043122110 | Esophagus | ESCC | regulation of I-kappaB kinase/NF-kappaB signaling | 167/8552 | 249/18723 | 6.11e-12 | 2.32e-10 | 167 |
GO:000724919 | Esophagus | ESCC | I-kappaB kinase/NF-kappaB signaling | 183/8552 | 281/18723 | 3.02e-11 | 1.01e-09 | 183 |
GO:009887615 | Esophagus | ESCC | vesicle-mediated transport to the plasma membrane | 99/8552 | 136/18723 | 1.13e-10 | 3.39e-09 | 99 |
GO:2000060111 | Esophagus | ESCC | positive regulation of ubiquitin-dependent protein catabolic process | 81/8552 | 107/18723 | 2.23e-10 | 6.34e-09 | 81 |
GO:0045185111 | Esophagus | ESCC | maintenance of protein location | 71/8552 | 94/18723 | 3.41e-09 | 7.24e-08 | 71 |
GO:0051235110 | Esophagus | ESCC | maintenance of location | 200/8552 | 327/18723 | 1.01e-08 | 2.02e-07 | 200 |
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 |
CCDC22 | SNV | Missense_Mutation | novel | c.766N>A | p.Leu256Met | p.L256M | O60826 | protein_coding | deleterious(0.01) | probably_damaging(0.994) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CCDC22 | SNV | Missense_Mutation | | c.298N>G | p.Leu100Val | p.L100V | O60826 | protein_coding | tolerated(0.2) | benign(0.362) | TCGA-D8-A147-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD |
CCDC22 | SNV | Missense_Mutation | | c.1713N>G | p.Ile571Met | p.I571M | O60826 | protein_coding | deleterious(0.05) | possibly_damaging(0.879) | TCGA-D8-A1JN-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozolum | SD |
CCDC22 | deletion | Frame_Shift_Del | novel | c.1641delC | p.Lys548ArgfsTer13 | p.K548Rfs*13 | O60826 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
CCDC22 | SNV | Missense_Mutation | novel | c.571N>A | p.Pro191Thr | p.P191T | O60826 | protein_coding | deleterious(0.01) | possibly_damaging(0.842) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CCDC22 | SNV | Missense_Mutation | novel | c.605N>T | p.Arg202Met | p.R202M | O60826 | protein_coding | tolerated(0.19) | possibly_damaging(0.81) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
CCDC22 | SNV | Missense_Mutation | novel | c.1196N>C | p.Asn399Thr | p.N399T | O60826 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
CCDC22 | SNV | Missense_Mutation | | c.1298N>A | p.Arg433His | p.R433H | O60826 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-EK-A2RB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
CCDC22 | SNV | Missense_Mutation | novel | c.419N>A | p.Leu140Gln | p.L140Q | O60826 | protein_coding | deleterious(0.04) | benign(0.235) | TCGA-VS-A8EJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
CCDC22 | insertion | Frame_Shift_Ins | novel | c.1194_1195insCACAG | p.Asn399HisfsTer81 | p.N399Hfs*81 | O60826 | protein_coding | | | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |