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:0032535 | Colorectum | AD | regulation of cellular component size | 142/3918 | 383/18723 | 1.74e-13 | 3.41e-11 | 142 |
GO:1902903 | Colorectum | AD | regulation of supramolecular fiber organization | 139/3918 | 383/18723 | 2.01e-12 | 3.19e-10 | 139 |
GO:0032970 | Colorectum | AD | regulation of actin filament-based process | 142/3918 | 397/18723 | 4.05e-12 | 5.90e-10 | 142 |
GO:0110053 | Colorectum | AD | regulation of actin filament organization | 108/3918 | 278/18723 | 5.02e-12 | 6.98e-10 | 108 |
GO:0008154 | Colorectum | AD | actin polymerization or depolymerization | 90/3918 | 218/18723 | 6.14e-12 | 8.23e-10 | 90 |
GO:0032271 | Colorectum | AD | regulation of protein polymerization | 94/3918 | 233/18723 | 1.01e-11 | 1.29e-09 | 94 |
GO:0030041 | Colorectum | AD | actin filament polymerization | 81/3918 | 191/18723 | 1.35e-11 | 1.69e-09 | 81 |
GO:0051258 | Colorectum | AD | protein polymerization | 112/3918 | 297/18723 | 1.85e-11 | 2.27e-09 | 112 |
GO:0043254 | Colorectum | AD | regulation of protein-containing complex assembly | 148/3918 | 428/18723 | 2.64e-11 | 3.18e-09 | 148 |
GO:0008064 | Colorectum | AD | regulation of actin polymerization or depolymerization | 79/3918 | 188/18723 | 4.17e-11 | 4.74e-09 | 79 |
GO:0030833 | Colorectum | AD | regulation of actin filament polymerization | 74/3918 | 172/18723 | 4.50e-11 | 5.03e-09 | 74 |
GO:0030832 | Colorectum | AD | regulation of actin filament length | 79/3918 | 189/18723 | 5.71e-11 | 6.27e-09 | 79 |
GO:0032956 | Colorectum | AD | regulation of actin cytoskeleton organization | 127/3918 | 358/18723 | 1.03e-10 | 1.04e-08 | 127 |
GO:0022411 | Colorectum | AD | cellular component disassembly | 147/3918 | 443/18723 | 8.53e-10 | 6.76e-08 | 147 |
GO:0032984 | Colorectum | AD | protein-containing complex disassembly | 81/3918 | 224/18723 | 9.41e-08 | 4.65e-06 | 81 |
GO:0010639 | Colorectum | AD | negative regulation of organelle organization | 114/3918 | 348/18723 | 1.41e-07 | 6.49e-06 | 114 |
GO:0032272 | Colorectum | AD | negative regulation of protein polymerization | 36/3918 | 80/18723 | 1.13e-06 | 3.72e-05 | 36 |
GO:0030837 | Colorectum | AD | negative regulation of actin filament polymerization | 30/3918 | 65/18723 | 4.59e-06 | 1.22e-04 | 30 |
GO:1902904 | Colorectum | AD | negative regulation of supramolecular fiber organization | 60/3918 | 167/18723 | 5.23e-06 | 1.35e-04 | 60 |
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 |
AVIL | SNV | Missense_Mutation | | c.727N>C | p.Asp243His | p.D243H | O75366 | protein_coding | deleterious(0.01) | benign(0.179) | TCGA-A8-A08L-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
AVIL | SNV | Missense_Mutation | rs549145073 | c.1637N>A | p.Arg546Gln | p.R546Q | O75366 | protein_coding | tolerated(0.28) | benign(0.003) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AVIL | SNV | Missense_Mutation | | c.670C>A | p.Gln224Lys | p.Q224K | O75366 | protein_coding | tolerated(0.65) | benign(0.001) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AVIL | SNV | Missense_Mutation | novel | c.2122N>G | p.Phe708Val | p.F708V | O75366 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
AVIL | insertion | In_Frame_Ins | novel | c.2253_2254insGCA | p.Ser751_Asn752insAla | p.S751_N752insA | O75366 | protein_coding | | | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
AVIL | insertion | Nonsense_Mutation | novel | c.2251_2252insGTGTGTGTTCTATGTAAAATGTGATAAATGTTAAATATA | p.Ser751delinsCysValCysSerMetTerAsnValIleAsnValLysTyrThr | p.S751delinsCVCSM*NVINVKYT | O75366 | protein_coding | | | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
AVIL | insertion | Frame_Shift_Ins | novel | c.1718_1719insGGGAGATGCTGCTGCTATCATGCGAATCACTGCTG | p.Leu574GlyfsTer51 | p.L574Gfs*51 | O75366 | protein_coding | | | TCGA-A8-A0A6-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | epirubicin | CR |
AVIL | insertion | Frame_Shift_Ins | novel | c.157_158insCTAGGGAGATGCAAATCAAAATCAATGAGATA | p.Ser53ThrfsTer82 | p.S53Tfs*82 | O75366 | protein_coding | | | TCGA-B6-A0IE-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
AVIL | insertion | Frame_Shift_Ins | novel | c.1782_1783dupAC | p.Leu595HisfsTer19 | p.L595Hfs*19 | O75366 | protein_coding | | | TCGA-D8-A27I-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adrimycin+cyclophosphamide | SD |
AVIL | SNV | Missense_Mutation | rs146185696 | c.1342G>A | p.Ala448Thr | p.A448T | O75366 | protein_coding | deleterious(0.04) | probably_damaging(1) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |