GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0022604 | Colorectum | AD | regulation of cell morphogenesis | 109/3918 | 309/18723 | 3.08e-09 | 2.07e-07 | 109 |
GO:0043087 | Colorectum | AD | regulation of GTPase activity | 110/3918 | 348/18723 | 1.64e-06 | 5.03e-05 | 110 |
GO:0008360 | Colorectum | AD | regulation of cell shape | 56/3918 | 154/18723 | 7.01e-06 | 1.73e-04 | 56 |
GO:0051056 | Colorectum | AD | regulation of small GTPase mediated signal transduction | 94/3918 | 302/18723 | 1.81e-05 | 3.76e-04 | 94 |
GO:0033674 | Colorectum | AD | positive regulation of kinase activity | 131/3918 | 467/18723 | 1.28e-04 | 1.85e-03 | 131 |
GO:0045860 | Colorectum | AD | positive regulation of protein kinase activity | 107/3918 | 386/18723 | 8.01e-04 | 7.92e-03 | 107 |
GO:0071900 | Colorectum | AD | regulation of protein serine/threonine kinase activity | 98/3918 | 359/18723 | 2.18e-03 | 1.73e-02 | 98 |
GO:0071902 | Colorectum | AD | positive regulation of protein serine/threonine kinase activity | 58/3918 | 200/18723 | 4.09e-03 | 2.84e-02 | 58 |
GO:00226041 | Colorectum | SER | regulation of cell morphogenesis | 89/2897 | 309/18723 | 1.51e-09 | 1.52e-07 | 89 |
GO:00083601 | Colorectum | SER | regulation of cell shape | 43/2897 | 154/18723 | 5.47e-05 | 1.30e-03 | 43 |
GO:00430871 | Colorectum | SER | regulation of GTPase activity | 77/2897 | 348/18723 | 5.90e-04 | 8.07e-03 | 77 |
GO:00336741 | Colorectum | SER | positive regulation of kinase activity | 95/2897 | 467/18723 | 2.62e-03 | 2.41e-02 | 95 |
GO:00458601 | Colorectum | SER | positive regulation of protein kinase activity | 79/2897 | 386/18723 | 4.85e-03 | 3.79e-02 | 79 |
GO:00719001 | Colorectum | SER | regulation of protein serine/threonine kinase activity | 74/2897 | 359/18723 | 5.22e-03 | 3.96e-02 | 74 |
GO:00226042 | Colorectum | MSS | regulation of cell morphogenesis | 103/3467 | 309/18723 | 2.70e-10 | 2.56e-08 | 103 |
GO:00430872 | Colorectum | MSS | regulation of GTPase activity | 101/3467 | 348/18723 | 1.00e-06 | 3.46e-05 | 101 |
GO:00083602 | Colorectum | MSS | regulation of cell shape | 52/3467 | 154/18723 | 4.40e-06 | 1.24e-04 | 52 |
GO:00336742 | Colorectum | MSS | positive regulation of kinase activity | 122/3467 | 467/18723 | 2.50e-05 | 5.21e-04 | 122 |
GO:00458602 | Colorectum | MSS | positive regulation of protein kinase activity | 102/3467 | 386/18723 | 6.93e-05 | 1.20e-03 | 102 |
GO:00510561 | Colorectum | MSS | regulation of small GTPase mediated signal transduction | 82/3467 | 302/18723 | 1.31e-04 | 1.99e-03 | 82 |
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 |
FGD2 | SNV | Missense_Mutation | novel | c.1478C>T | p.Ser493Phe | p.S493F | Q7Z6J4 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
FGD2 | SNV | Missense_Mutation | novel | c.10N>T | p.Ala4Ser | p.A4S | Q7Z6J4 | protein_coding | tolerated_low_confidence(0.19) | benign(0.011) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
FGD2 | SNV | Missense_Mutation | rs149007517 | c.1822C>T | p.Arg608Trp | p.R608W | Q7Z6J4 | protein_coding | deleterious(0.02) | probably_damaging(0.928) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
FGD2 | SNV | Missense_Mutation | rs779622760 | c.1105G>A | p.Asp369Asn | p.D369N | Q7Z6J4 | protein_coding | deleterious(0.04) | probably_damaging(0.926) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FGD2 | SNV | Missense_Mutation | | c.1645N>G | p.Ser549Gly | p.S549G | Q7Z6J4 | protein_coding | tolerated(0.62) | benign(0.003) | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
FGD2 | SNV | Missense_Mutation | rs750198030 | c.139N>A | p.Glu47Lys | p.E47K | Q7Z6J4 | protein_coding | tolerated_low_confidence(0.88) | benign(0.001) | TCGA-BH-A0E0-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
FGD2 | SNV | Missense_Mutation | rs371671447 | c.356C>T | p.Ala119Val | p.A119V | Q7Z6J4 | protein_coding | tolerated(0.07) | possibly_damaging(0.611) | TCGA-BH-A0HA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FGD2 | SNV | Missense_Mutation | rs746649633 | c.997C>T | p.Arg333Cys | p.R333C | Q7Z6J4 | protein_coding | deleterious(0.01) | possibly_damaging(0.877) | TCGA-C8-A1HJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FGD2 | SNV | Missense_Mutation | | c.1616N>T | p.Ser539Leu | p.S539L | Q7Z6J4 | protein_coding | tolerated(0.08) | benign(0) | TCGA-EW-A1J5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
FGD2 | insertion | Frame_Shift_Ins | novel | c.1685_1686insC | p.Arg564ProfsTer10 | p.R564Pfs*10 | Q7Z6J4 | protein_coding | | | TCGA-E2-A1LH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |