GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00715591 | Colorectum | FAP | response to transforming growth factor beta | 63/2622 | 256/18723 | 3.82e-06 | 1.32e-04 | 63 |
GO:00071782 | Colorectum | FAP | transmembrane receptor protein serine/threonine kinase signaling pathway | 81/2622 | 355/18723 | 4.28e-06 | 1.46e-04 | 81 |
GO:00715601 | Colorectum | FAP | cellular response to transforming growth factor beta stimulus | 61/2622 | 250/18723 | 7.22e-06 | 2.19e-04 | 61 |
GO:00071791 | Colorectum | FAP | transforming growth factor beta receptor signaling pathway | 50/2622 | 198/18723 | 1.75e-05 | 4.44e-04 | 50 |
GO:0017015 | Colorectum | FAP | regulation of transforming growth factor beta receptor signaling pathway | 31/2622 | 128/18723 | 1.35e-03 | 1.24e-02 | 31 |
GO:1903844 | Colorectum | FAP | regulation of cellular response to transforming growth factor beta stimulus | 31/2622 | 131/18723 | 2.01e-03 | 1.67e-02 | 31 |
GO:0090092 | Colorectum | FAP | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 52/2622 | 256/18723 | 3.33e-03 | 2.44e-02 | 52 |
GO:0060428 | Colorectum | FAP | lung epithelium development | 12/2622 | 37/18723 | 3.43e-03 | 2.48e-02 | 12 |
GO:0030323 | Colorectum | FAP | respiratory tube development | 39/2622 | 181/18723 | 3.60e-03 | 2.58e-02 | 39 |
GO:0030324 | Colorectum | FAP | lung development | 38/2622 | 177/18723 | 4.28e-03 | 2.93e-02 | 38 |
GO:00071783 | Colorectum | CRC | transmembrane receptor protein serine/threonine kinase signaling pathway | 66/2078 | 355/18723 | 1.74e-05 | 5.28e-04 | 66 |
GO:00715592 | Colorectum | CRC | response to transforming growth factor beta | 51/2078 | 256/18723 | 2.33e-05 | 6.65e-04 | 51 |
GO:00715602 | Colorectum | CRC | cellular response to transforming growth factor beta stimulus | 49/2078 | 250/18723 | 5.17e-05 | 1.19e-03 | 49 |
GO:00071792 | Colorectum | CRC | transforming growth factor beta receptor signaling pathway | 39/2078 | 198/18723 | 2.58e-04 | 4.19e-03 | 39 |
GO:00900921 | Colorectum | CRC | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 46/2078 | 256/18723 | 6.66e-04 | 8.77e-03 | 46 |
GO:00303231 | Colorectum | CRC | respiratory tube development | 34/2078 | 181/18723 | 1.47e-03 | 1.57e-02 | 34 |
GO:00170151 | Colorectum | CRC | regulation of transforming growth factor beta receptor signaling pathway | 26/2078 | 128/18723 | 1.63e-03 | 1.70e-02 | 26 |
GO:00604281 | Colorectum | CRC | lung epithelium development | 11/2078 | 37/18723 | 1.69e-03 | 1.75e-02 | 11 |
GO:00303241 | Colorectum | CRC | lung development | 33/2078 | 177/18723 | 1.94e-03 | 1.96e-02 | 33 |
GO:19038441 | Colorectum | CRC | regulation of cellular response to transforming growth factor beta stimulus | 26/2078 | 131/18723 | 2.29e-03 | 2.20e-02 | 26 |
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 |
ADAMTSL2 | SNV | Missense_Mutation | novel | c.2734N>T | p.Pro912Ser | p.P912S | Q86TH1 | protein_coding | deleterious(0) | possibly_damaging(0.743) | TCGA-A2-A0T0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
ADAMTSL2 | SNV | Missense_Mutation | novel | c.418T>C | p.Tyr140His | p.Y140H | Q86TH1 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ADAMTSL2 | SNV | Missense_Mutation | novel | c.1361N>T | p.Ser454Leu | p.S454L | Q86TH1 | protein_coding | tolerated(0.23) | benign(0.005) | TCGA-C8-A12O-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ADAMTSL2 | SNV | Missense_Mutation | | c.863N>A | p.Arg288Gln | p.R288Q | Q86TH1 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-C8-A131-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
ADAMTSL2 | SNV | Missense_Mutation | novel | c.2629G>A | p.Asp877Asn | p.D877N | Q86TH1 | protein_coding | deleterious(0) | probably_damaging(0.971) | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
ADAMTSL2 | deletion | Frame_Shift_Del | novel | c.2372delN | p.Asp791AlafsTer83 | p.D791Afs*83 | Q86TH1 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
ADAMTSL2 | SNV | Missense_Mutation | novel | c.1582G>A | p.Glu528Lys | p.E528K | Q86TH1 | protein_coding | tolerated(0.11) | benign(0.411) | TCGA-C5-A1M9-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
ADAMTSL2 | SNV | Missense_Mutation | rs762657949 | c.89N>T | p.Thr30Met | p.T30M | Q86TH1 | protein_coding | tolerated(0.1) | benign(0.092) | TCGA-C5-A7XC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ADAMTSL2 | SNV | Missense_Mutation | novel | c.1702T>A | p.Trp568Arg | p.W568R | Q86TH1 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-C5-A8XH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ADAMTSL2 | SNV | Missense_Mutation | novel | c.1760N>T | p.Ala587Val | p.A587V | Q86TH1 | protein_coding | deleterious(0) | benign(0.022) | TCGA-EK-A2RK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |