GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00076233 | Colorectum | FAP | circadian rhythm | 56/2622 | 210/18723 | 9.12e-07 | 4.14e-05 | 56 |
GO:00510524 | Colorectum | FAP | regulation of DNA metabolic process | 84/2622 | 359/18723 | 9.80e-07 | 4.38e-05 | 84 |
GO:00485113 | Colorectum | FAP | rhythmic process | 72/2622 | 298/18723 | 1.67e-06 | 6.99e-05 | 72 |
GO:00510544 | Colorectum | FAP | positive regulation of DNA metabolic process | 53/2622 | 201/18723 | 2.55e-06 | 9.82e-05 | 53 |
GO:20010204 | Colorectum | FAP | regulation of response to DNA damage stimulus | 51/2622 | 219/18723 | 1.40e-04 | 2.21e-03 | 51 |
GO:00062822 | Colorectum | FAP | regulation of DNA repair | 32/2622 | 130/18723 | 8.53e-04 | 8.79e-03 | 32 |
GO:20010222 | Colorectum | FAP | positive regulation of response to DNA damage stimulus | 27/2622 | 105/18723 | 1.04e-03 | 1.02e-02 | 27 |
GO:00094102 | Colorectum | FAP | response to xenobiotic stimulus | 87/2622 | 462/18723 | 2.15e-03 | 1.77e-02 | 87 |
GO:00457391 | Colorectum | FAP | positive regulation of DNA repair | 19/2622 | 73/18723 | 4.71e-03 | 3.17e-02 | 19 |
GO:0032922 | Colorectum | FAP | circadian regulation of gene expression | 18/2622 | 68/18723 | 4.83e-03 | 3.25e-02 | 18 |
GO:00485114 | Colorectum | CRC | rhythmic process | 64/2078 | 298/18723 | 1.43e-07 | 1.62e-05 | 64 |
GO:00510545 | Colorectum | CRC | positive regulation of DNA metabolic process | 46/2078 | 201/18723 | 1.26e-06 | 7.21e-05 | 46 |
GO:00510525 | Colorectum | CRC | regulation of DNA metabolic process | 70/2078 | 359/18723 | 1.75e-06 | 8.92e-05 | 70 |
GO:00076234 | Colorectum | CRC | circadian rhythm | 47/2078 | 210/18723 | 1.89e-06 | 9.29e-05 | 47 |
GO:20010205 | Colorectum | CRC | regulation of response to DNA damage stimulus | 45/2078 | 219/18723 | 3.13e-05 | 8.09e-04 | 45 |
GO:00062823 | Colorectum | CRC | regulation of DNA repair | 30/2078 | 130/18723 | 7.15e-05 | 1.52e-03 | 30 |
GO:20010223 | Colorectum | CRC | positive regulation of response to DNA damage stimulus | 25/2078 | 105/18723 | 1.64e-04 | 2.94e-03 | 25 |
GO:00457392 | Colorectum | CRC | positive regulation of DNA repair | 18/2078 | 73/18723 | 8.33e-04 | 1.04e-02 | 18 |
GO:00094103 | Colorectum | CRC | response to xenobiotic stimulus | 69/2078 | 462/18723 | 6.34e-03 | 4.61e-02 | 69 |
GO:004851110 | Prostate | BPH | rhythmic process | 96/3107 | 298/18723 | 1.88e-11 | 1.31e-09 | 96 |
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 |
NPAS2 | SNV | Missense_Mutation | novel | c.1686N>T | p.Glu562Asp | p.E562D | Q99743 | protein_coding | tolerated(0.45) | benign(0.003) | TCGA-DF-A2KN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
NPAS2 | SNV | Missense_Mutation | rs148668573 | c.1463C>T | p.Thr488Met | p.T488M | Q99743 | protein_coding | tolerated(0.11) | benign(0.223) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
NPAS2 | SNV | Missense_Mutation | novel | c.364N>G | p.Ser122Ala | p.S122A | Q99743 | protein_coding | deleterious(0.04) | benign(0.068) | TCGA-DF-A2KV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NPAS2 | SNV | Missense_Mutation | | c.1163C>A | p.Pro388His | p.P388H | Q99743 | protein_coding | tolerated(0.21) | benign(0.03) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NPAS2 | SNV | Missense_Mutation | novel | c.769T>G | p.Leu257Val | p.L257V | Q99743 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
NPAS2 | SNV | Missense_Mutation | novel | c.711C>A | p.Phe237Leu | p.F237L | Q99743 | protein_coding | tolerated(0.09) | benign(0.217) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
NPAS2 | SNV | Missense_Mutation | | c.2341C>A | p.Leu781Ile | p.L781I | Q99743 | protein_coding | deleterious(0.03) | probably_damaging(0.991) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
NPAS2 | SNV | Missense_Mutation | rs763172499 | c.583C>T | p.Arg195Cys | p.R195C | Q99743 | protein_coding | deleterious(0) | probably_damaging(0.943) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NPAS2 | SNV | Missense_Mutation | rs767945700 | c.1540N>T | p.Arg514Trp | p.R514W | Q99743 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-EY-A547-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NPAS2 | SNV | Missense_Mutation | novel | c.241N>G | p.Ser81Gly | p.S81G | Q99743 | protein_coding | deleterious(0.02) | probably_damaging(0.994) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |