GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001657015 | Esophagus | ESCC | histone modification | 323/8552 | 463/18723 | 2.61e-26 | 7.88e-24 | 323 |
GO:004477216 | Esophagus | ESCC | mitotic cell cycle phase transition | 281/8552 | 424/18723 | 4.63e-18 | 4.45e-16 | 281 |
GO:000699713 | Esophagus | ESCC | nucleus organization | 96/8552 | 133/18723 | 4.66e-10 | 1.21e-08 | 96 |
GO:000632517 | Esophagus | ESCC | chromatin organization | 240/8552 | 409/18723 | 6.52e-08 | 1.14e-06 | 240 |
GO:00400295 | Esophagus | ESCC | regulation of gene expression, epigenetic | 74/8552 | 105/18723 | 2.24e-07 | 3.42e-06 | 74 |
GO:000008214 | Esophagus | ESCC | G1/S transition of mitotic cell cycle | 134/8552 | 214/18723 | 4.04e-07 | 5.55e-06 | 134 |
GO:004484314 | Esophagus | ESCC | cell cycle G1/S phase transition | 148/8552 | 241/18723 | 5.68e-07 | 7.48e-06 | 148 |
GO:00063602 | Esophagus | ESCC | transcription by RNA polymerase I | 42/8552 | 55/18723 | 3.41e-06 | 3.78e-05 | 42 |
GO:00063564 | Esophagus | ESCC | regulation of transcription by RNA polymerase I | 27/8552 | 34/18723 | 6.01e-05 | 4.62e-04 | 27 |
GO:00459432 | Esophagus | ESCC | positive regulation of transcription by RNA polymerase I | 19/8552 | 23/18723 | 3.12e-04 | 1.85e-03 | 19 |
GO:00064824 | Esophagus | ESCC | protein demethylation | 24/8552 | 33/18723 | 1.50e-03 | 7.06e-03 | 24 |
GO:00082144 | Esophagus | ESCC | protein dealkylation | 24/8552 | 33/18723 | 1.50e-03 | 7.06e-03 | 24 |
GO:00708281 | Esophagus | ESCC | heterochromatin organization | 31/8552 | 46/18723 | 2.42e-03 | 1.06e-02 | 31 |
GO:00165773 | Esophagus | ESCC | histone demethylation | 22/8552 | 31/18723 | 3.90e-03 | 1.58e-02 | 22 |
GO:00700763 | Esophagus | ESCC | histone lysine demethylation | 20/8552 | 28/18723 | 5.23e-03 | 1.97e-02 | 20 |
GO:0045814 | Esophagus | ESCC | negative regulation of gene expression, epigenetic | 32/8552 | 50/18723 | 6.90e-03 | 2.52e-02 | 32 |
GO:00609686 | Esophagus | ESCC | regulation of gene silencing | 48/8552 | 81/18723 | 9.54e-03 | 3.30e-02 | 48 |
GO:19022751 | Esophagus | ESCC | regulation of chromatin organization | 22/8552 | 33/18723 | 1.22e-02 | 4.08e-02 | 22 |
GO:00447727 | Prostate | BPH | mitotic cell cycle phase transition | 112/3107 | 424/18723 | 1.57e-07 | 3.58e-06 | 112 |
GO:00165706 | Prostate | BPH | histone modification | 120/3107 | 463/18723 | 1.73e-07 | 3.89e-06 | 120 |
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 |
PHF8 | SNV | Missense_Mutation | novel | c.901N>T | p.Ile301Phe | p.I301F | Q9UPP1 | protein_coding | deleterious(0) | probably_damaging(0.926) | TCGA-AC-A23G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR |
PHF8 | SNV | Missense_Mutation | | c.574N>C | p.Glu192Gln | p.E192Q | Q9UPP1 | protein_coding | tolerated(0.51) | benign(0.051) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
PHF8 | SNV | Missense_Mutation | novel | c.2836G>A | p.Asp946Asn | p.D946N | Q9UPP1 | protein_coding | tolerated(0.29) | benign(0.048) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PHF8 | SNV | Missense_Mutation | novel | c.2182C>A | p.Leu728Ile | p.L728I | Q9UPP1 | protein_coding | deleterious(0.05) | probably_damaging(0.987) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PHF8 | SNV | Missense_Mutation | | c.536C>A | p.Thr179Asn | p.T179N | Q9UPP1 | protein_coding | tolerated(0.13) | benign(0.106) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PHF8 | SNV | Missense_Mutation | rs782411309 | c.1942N>C | p.Asp648His | p.D648H | Q9UPP1 | protein_coding | deleterious(0.01) | possibly_damaging(0.831) | TCGA-AN-A0FJ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
PHF8 | SNV | Missense_Mutation | | c.1645N>A | p.Ala549Thr | p.A549T | Q9UPP1 | protein_coding | tolerated(0.41) | benign(0) | TCGA-AR-A24Q-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
PHF8 | SNV | Missense_Mutation | novel | c.2881A>C | p.Thr961Pro | p.T961P | Q9UPP1 | protein_coding | tolerated(0.4) | benign(0) | TCGA-B6-A0I9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
PHF8 | SNV | Missense_Mutation | | c.3010N>T | p.Arg1004Cys | p.R1004C | Q9UPP1 | protein_coding | deleterious(0.01) | probably_damaging(0.991) | TCGA-BH-A1EV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
PHF8 | SNV | Missense_Mutation | | c.1256G>A | p.Arg419Gln | p.R419Q | Q9UPP1 | protein_coding | deleterious(0.01) | benign(0.065) | TCGA-C8-A1HK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |