GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:1903829111 | Esophagus | ESCC | positive regulation of cellular protein localization | 199/8552 | 276/18723 | 2.99e-19 | 3.45e-17 | 199 |
GO:000931419 | Esophagus | ESCC | response to radiation | 277/8552 | 456/18723 | 4.42e-11 | 1.43e-09 | 277 |
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:00070982 | Esophagus | ESCC | centrosome cycle | 85/8552 | 130/18723 | 4.41e-06 | 4.69e-05 | 85 |
GO:00310233 | Esophagus | ESCC | microtubule organizing center organization | 92/8552 | 143/18723 | 5.04e-06 | 5.31e-05 | 92 |
GO:000941611 | Esophagus | ESCC | response to light stimulus | 183/8552 | 320/18723 | 2.03e-05 | 1.76e-04 | 183 |
GO:19055086 | Esophagus | ESCC | protein localization to microtubule organizing center | 28/8552 | 35/18723 | 3.40e-05 | 2.78e-04 | 28 |
GO:00715396 | Esophagus | ESCC | protein localization to centrosome | 26/8552 | 33/18723 | 1.06e-04 | 7.43e-04 | 26 |
GO:0010457 | Esophagus | ESCC | centriole-centriole cohesion | 12/8552 | 14/18723 | 2.51e-03 | 1.08e-02 | 12 |
GO:19055153 | Esophagus | ESCC | non-motile cilium assembly | 39/8552 | 61/18723 | 3.08e-03 | 1.28e-02 | 39 |
GO:190382922 | Liver | HCC | positive regulation of cellular protein localization | 199/7958 | 276/18723 | 1.15e-23 | 2.62e-21 | 199 |
GO:0031023 | Liver | HCC | microtubule organizing center organization | 82/7958 | 143/18723 | 2.38e-04 | 1.79e-03 | 82 |
GO:0007098 | Liver | HCC | centrosome cycle | 75/7958 | 130/18723 | 3.33e-04 | 2.34e-03 | 75 |
GO:00443802 | Liver | HCC | protein localization to cytoskeleton | 38/7958 | 58/18723 | 3.37e-04 | 2.36e-03 | 38 |
GO:007269811 | Liver | HCC | protein localization to microtubule cytoskeleton | 35/7958 | 54/18723 | 7.73e-04 | 4.65e-03 | 35 |
GO:00093146 | Liver | HCC | response to radiation | 223/7958 | 456/18723 | 3.08e-03 | 1.43e-02 | 223 |
GO:190550811 | Liver | HCC | protein localization to microtubule organizing center | 23/7958 | 35/18723 | 4.72e-03 | 2.02e-02 | 23 |
GO:007153911 | Liver | HCC | protein localization to centrosome | 21/7958 | 33/18723 | 1.16e-02 | 4.28e-02 | 21 |
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 |
CEP250 | SNV | Missense_Mutation | | c.5019G>T | p.Gln1673His | p.Q1673H | Q9BV73 | protein_coding | tolerated(0.54) | benign(0.346) | TCGA-D8-A1Y0-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cyclophosphamide+methotrexatum+fluorouracillum | SD |
CEP250 | SNV | Missense_Mutation | | c.1237N>G | p.Gln413Glu | p.Q413E | Q9BV73 | protein_coding | deleterious(0.03) | probably_damaging(0.99) | TCGA-E2-A15A-06 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
CEP250 | SNV | Missense_Mutation | rs748695664 | c.232G>A | p.Glu78Lys | p.E78K | Q9BV73 | protein_coding | tolerated(0.17) | possibly_damaging(0.864) | TCGA-E2-A1B4-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | arimidex | SD |
CEP250 | insertion | Frame_Shift_Ins | novel | c.2647_2648insA | p.Met885AsnfsTer106 | p.M885Nfs*106 | Q9BV73 | protein_coding | | | TCGA-BH-A0BJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
CEP250 | deletion | Frame_Shift_Del | novel | c.2361delN | p.Gln789SerfsTer15 | p.Q789Sfs*15 | Q9BV73 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
CEP250 | SNV | Missense_Mutation | novel | c.3910N>C | p.Trp1304Arg | p.W1304R | Q9BV73 | protein_coding | tolerated(0.1) | probably_damaging(0.955) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CEP250 | SNV | Missense_Mutation | | c.1035N>G | p.Ile345Met | p.I345M | Q9BV73 | protein_coding | deleterious(0.02) | probably_damaging(0.976) | TCGA-BI-A0VR-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
CEP250 | SNV | Missense_Mutation | rs775018359 | c.544N>T | p.Arg182Trp | p.R182W | Q9BV73 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-C5-A0TN-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
CEP250 | SNV | Missense_Mutation | | c.6898N>A | p.Leu2300Met | p.L2300M | Q9BV73 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EK-A2R9-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
CEP250 | SNV | Missense_Mutation | novel | c.6669N>C | p.Glu2223Asp | p.E2223D | Q9BV73 | protein_coding | tolerated(0.06) | probably_damaging(0.99) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |