GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00705078 | Esophagus | ESCC | regulation of microtubule cytoskeleton organization | 99/8552 | 148/18723 | 1.43e-07 | 2.29e-06 | 99 |
GO:00073698 | Esophagus | ESCC | gastrulation | 115/8552 | 185/18723 | 4.35e-06 | 4.64e-05 | 115 |
GO:00301984 | Esophagus | ESCC | extracellular matrix organization | 171/8552 | 301/18723 | 6.08e-05 | 4.67e-04 | 171 |
GO:00430624 | Esophagus | ESCC | extracellular structure organization | 171/8552 | 302/18723 | 7.73e-05 | 5.76e-04 | 171 |
GO:00452294 | Esophagus | ESCC | external encapsulating structure organization | 172/8552 | 304/18723 | 7.80e-05 | 5.80e-04 | 172 |
GO:00018378 | Esophagus | ESCC | epithelial to mesenchymal transition | 95/8552 | 157/18723 | 1.25e-04 | 8.56e-04 | 95 |
GO:19030553 | Esophagus | ESCC | positive regulation of extracellular matrix organization | 20/8552 | 25/18723 | 4.81e-04 | 2.69e-03 | 20 |
GO:00487628 | Esophagus | ESCC | mesenchymal cell differentiation | 133/8552 | 236/18723 | 5.94e-04 | 3.22e-03 | 133 |
GO:00328864 | Esophagus | ESCC | regulation of microtubule-based process | 134/8552 | 240/18723 | 9.44e-04 | 4.80e-03 | 134 |
GO:00107174 | Esophagus | ESCC | regulation of epithelial to mesenchymal transition | 61/8552 | 99/18723 | 1.01e-03 | 5.09e-03 | 61 |
GO:00101711 | Esophagus | ESCC | body morphogenesis | 30/8552 | 43/18723 | 1.21e-03 | 5.88e-03 | 30 |
GO:00604856 | Esophagus | ESCC | mesenchyme development | 156/8552 | 291/18723 | 3.76e-03 | 1.53e-02 | 156 |
GO:00717115 | Esophagus | ESCC | basement membrane organization | 22/8552 | 31/18723 | 3.90e-03 | 1.58e-02 | 22 |
GO:19012033 | Esophagus | ESCC | positive regulation of extracellular matrix assembly | 9/8552 | 10/18723 | 5.09e-03 | 1.92e-02 | 9 |
GO:00850292 | Esophagus | ESCC | extracellular matrix assembly | 29/8552 | 45/18723 | 8.63e-03 | 3.04e-02 | 29 |
GO:19030532 | Esophagus | ESCC | regulation of extracellular matrix organization | 30/8552 | 48/18723 | 1.40e-02 | 4.57e-02 | 30 |
GO:007050717 | Thyroid | PTC | regulation of microtubule cytoskeleton organization | 80/5968 | 148/18723 | 1.79e-08 | 4.19e-07 | 80 |
GO:000183715 | Thyroid | PTC | epithelial to mesenchymal transition | 76/5968 | 157/18723 | 1.10e-05 | 1.21e-04 | 76 |
GO:00328866 | Thyroid | PTC | regulation of microtubule-based process | 105/5968 | 240/18723 | 6.91e-05 | 6.03e-04 | 105 |
GO:000736910 | Thyroid | PTC | gastrulation | 84/5968 | 185/18723 | 7.58e-05 | 6.52e-04 | 84 |
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 |
PHLDB1 | SNV | Missense_Mutation | | c.1135N>T | p.Pro379Ser | p.P379S | Q86UU1 | protein_coding | deleterious(0.04) | benign(0.003) | TCGA-A7-A0CE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
PHLDB1 | SNV | Missense_Mutation | novel | c.2554G>C | p.Asp852His | p.D852H | Q86UU1 | protein_coding | deleterious(0.01) | benign(0.347) | TCGA-A7-A4SF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
PHLDB1 | SNV | Missense_Mutation | | c.2678G>C | p.Arg893Thr | p.R893T | Q86UU1 | protein_coding | deleterious(0) | benign(0.366) | TCGA-A7-A4SF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
PHLDB1 | SNV | Missense_Mutation | rs781810580 | c.1400N>A | p.Arg467Gln | p.R467Q | Q86UU1 | protein_coding | deleterious(0.01) | probably_damaging(0.968) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PHLDB1 | SNV | Missense_Mutation | rs782206998 | c.236N>A | p.Gly79Asp | p.G79D | Q86UU1 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AN-A0XS-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
PHLDB1 | SNV | Missense_Mutation | | c.743A>G | p.Tyr248Cys | p.Y248C | Q86UU1 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-B6-A0WX-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
PHLDB1 | SNV | Missense_Mutation | rs782211405 | c.346N>A | p.Leu116Ile | p.L116I | Q86UU1 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-BH-A0BF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PHLDB1 | SNV | Missense_Mutation | | c.997N>A | p.Asp333Asn | p.D333N | Q86UU1 | protein_coding | tolerated(0.11) | benign(0.379) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
PHLDB1 | SNV | Missense_Mutation | | c.1304N>T | p.Thr435Ile | p.T435I | Q86UU1 | protein_coding | deleterious(0.02) | benign(0.021) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
PHLDB1 | SNV | Missense_Mutation | | c.1044N>T | p.Glu348Asp | p.E348D | Q86UU1 | protein_coding | tolerated(0.14) | benign(0.253) | TCGA-C8-A134-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |