GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0007015 | Colorectum | AD | actin filament organization | 167/3918 | 442/18723 | 1.65e-16 | 7.94e-14 | 167 |
GO:0022604 | Colorectum | AD | regulation of cell morphogenesis | 109/3918 | 309/18723 | 3.08e-09 | 2.07e-07 | 109 |
GO:0061572 | Colorectum | AD | actin filament bundle organization | 60/3918 | 161/18723 | 1.33e-06 | 4.23e-05 | 60 |
GO:0051017 | Colorectum | AD | actin filament bundle assembly | 58/3918 | 157/18723 | 2.74e-06 | 7.89e-05 | 58 |
GO:0008360 | Colorectum | AD | regulation of cell shape | 56/3918 | 154/18723 | 7.01e-06 | 1.73e-04 | 56 |
GO:0031032 | Colorectum | AD | actomyosin structure organization | 65/3918 | 196/18723 | 4.17e-05 | 7.37e-04 | 65 |
GO:0030038 | Colorectum | AD | contractile actin filament bundle assembly | 39/3918 | 106/18723 | 1.22e-04 | 1.78e-03 | 39 |
GO:0043149 | Colorectum | AD | stress fiber assembly | 39/3918 | 106/18723 | 1.22e-04 | 1.78e-03 | 39 |
GO:00070152 | Colorectum | MSS | actin filament organization | 146/3467 | 442/18723 | 1.16e-13 | 2.67e-11 | 146 |
GO:00226042 | Colorectum | MSS | regulation of cell morphogenesis | 103/3467 | 309/18723 | 2.70e-10 | 2.56e-08 | 103 |
GO:00083602 | Colorectum | MSS | regulation of cell shape | 52/3467 | 154/18723 | 4.40e-06 | 1.24e-04 | 52 |
GO:00615722 | Colorectum | MSS | actin filament bundle organization | 50/3467 | 161/18723 | 8.18e-05 | 1.35e-03 | 50 |
GO:00510172 | Colorectum | MSS | actin filament bundle assembly | 49/3467 | 157/18723 | 8.35e-05 | 1.36e-03 | 49 |
GO:00310322 | Colorectum | MSS | actomyosin structure organization | 53/3467 | 196/18723 | 2.04e-03 | 1.75e-02 | 53 |
GO:00300382 | Colorectum | MSS | contractile actin filament bundle assembly | 32/3467 | 106/18723 | 2.41e-03 | 1.96e-02 | 32 |
GO:00431492 | Colorectum | MSS | stress fiber assembly | 32/3467 | 106/18723 | 2.41e-03 | 1.96e-02 | 32 |
GO:00070154 | Colorectum | FAP | actin filament organization | 125/2622 | 442/18723 | 1.97e-15 | 3.03e-12 | 125 |
GO:00226044 | Colorectum | FAP | regulation of cell morphogenesis | 87/2622 | 309/18723 | 4.89e-11 | 1.87e-08 | 87 |
GO:00615723 | Colorectum | FAP | actin filament bundle organization | 49/2622 | 161/18723 | 5.69e-08 | 4.30e-06 | 49 |
GO:00510173 | Colorectum | FAP | actin filament bundle assembly | 48/2622 | 157/18723 | 6.62e-08 | 4.56e-06 | 48 |
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 |
FAM171A1 | SNV | Missense_Mutation | | c.1828N>A | p.Glu610Lys | p.E610K | Q5VUB5 | protein_coding | deleterious(0.03) | benign(0.341) | TCGA-A1-A0SI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FAM171A1 | SNV | Missense_Mutation | | c.768N>C | p.Lys256Asn | p.K256N | Q5VUB5 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-A2-A04W-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
FAM171A1 | SNV | Missense_Mutation | | c.2388N>C | p.Gln796His | p.Q796H | Q5VUB5 | protein_coding | tolerated(0.07) | possibly_damaging(0.446) | TCGA-A8-A06Q-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
FAM171A1 | SNV | Missense_Mutation | | c.1896N>T | p.Gln632His | p.Q632H | Q5VUB5 | protein_coding | tolerated(0.15) | benign(0.062) | TCGA-A8-A06Q-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
FAM171A1 | SNV | Missense_Mutation | | c.2305N>A | p.Val769Ile | p.V769I | Q5VUB5 | protein_coding | tolerated(0.23) | benign(0.024) | TCGA-AR-A254-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
FAM171A1 | SNV | Missense_Mutation | rs764160938 | c.731C>T | p.Ala244Val | p.A244V | Q5VUB5 | protein_coding | tolerated(0.12) | possibly_damaging(0.524) | TCGA-BH-A0BO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FAM171A1 | SNV | Missense_Mutation | | c.1421N>T | p.Arg474Ile | p.R474I | Q5VUB5 | protein_coding | tolerated(0.26) | benign(0.003) | TCGA-BH-A1F2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
FAM171A1 | insertion | In_Frame_Ins | novel | c.1090_1091insGCAGGA | p.Leu364delinsCysArgMet | p.L364delinsCRM | Q5VUB5 | protein_coding | | | TCGA-AN-A04A-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
FAM171A1 | insertion | Frame_Shift_Ins | novel | c.1088_1089insGTGGTGGCCAGCTGCCCAGC | p.Asn363LysfsTer38 | p.N363Kfs*38 | Q5VUB5 | protein_coding | | | TCGA-AN-A04A-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
FAM171A1 | insertion | Frame_Shift_Ins | novel | c.1292_1293insGGACCGCAGACCCACTGAATGTATGATGTCGCGATCAGTAGATC | p.Leu432AspfsTer50 | p.L432Dfs*50 | Q5VUB5 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |