GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:1902903 | Colorectum | AD | regulation of supramolecular fiber organization | 139/3918 | 383/18723 | 2.01e-12 | 3.19e-10 | 139 |
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:1902904 | Colorectum | AD | negative regulation of supramolecular fiber organization | 60/3918 | 167/18723 | 5.23e-06 | 1.35e-04 | 60 |
GO:0051494 | Colorectum | AD | negative regulation of cytoskeleton organization | 58/3918 | 163/18723 | 1.04e-05 | 2.40e-04 | 58 |
GO:0043244 | Colorectum | AD | regulation of protein-containing complex disassembly | 41/3918 | 121/18723 | 6.22e-04 | 6.48e-03 | 41 |
GO:0043624 | Colorectum | AD | cellular protein complex disassembly | 45/3918 | 136/18723 | 6.24e-04 | 6.48e-03 | 45 |
GO:0051261 | Colorectum | AD | protein depolymerization | 39/3918 | 114/18723 | 6.74e-04 | 6.91e-03 | 39 |
GO:0043242 | Colorectum | AD | negative regulation of protein-containing complex disassembly | 29/3918 | 82/18723 | 1.76e-03 | 1.45e-02 | 29 |
GO:1901880 | Colorectum | AD | negative regulation of protein depolymerization | 26/3918 | 72/18723 | 2.12e-03 | 1.68e-02 | 26 |
GO:1901879 | Colorectum | AD | regulation of protein depolymerization | 30/3918 | 87/18723 | 2.32e-03 | 1.80e-02 | 30 |
GO:0070507 | Colorectum | AD | regulation of microtubule cytoskeleton organization | 44/3918 | 148/18723 | 7.05e-03 | 4.31e-02 | 44 |
GO:19029031 | Colorectum | SER | regulation of supramolecular fiber organization | 114/2897 | 383/18723 | 7.32e-13 | 1.95e-10 | 114 |
GO:00224111 | Colorectum | SER | cellular component disassembly | 114/2897 | 443/18723 | 1.17e-08 | 9.59e-07 | 114 |
GO:00106391 | Colorectum | SER | negative regulation of organelle organization | 90/2897 | 348/18723 | 3.14e-07 | 1.69e-05 | 90 |
GO:19029041 | Colorectum | SER | negative regulation of supramolecular fiber organization | 50/2897 | 167/18723 | 1.63e-06 | 7.23e-05 | 50 |
GO:00329841 | Colorectum | SER | protein-containing complex disassembly | 61/2897 | 224/18723 | 4.17e-06 | 1.60e-04 | 61 |
GO:00514941 | Colorectum | SER | negative regulation of cytoskeleton organization | 48/2897 | 163/18723 | 4.34e-06 | 1.63e-04 | 48 |
GO:00436241 | Colorectum | SER | cellular protein complex disassembly | 37/2897 | 136/18723 | 3.08e-04 | 5.00e-03 | 37 |
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 |
ATXN7 | SNV | Missense_Mutation | | c.599N>T | p.Ala200Val | p.A200V | O15265 | protein_coding | tolerated(0.27) | benign(0.068) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ATXN7 | SNV | Missense_Mutation | novel | c.1609G>C | p.Asp537His | p.D537H | O15265 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AR-A2LE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | PD |
ATXN7 | SNV | Missense_Mutation | | c.1916N>C | p.Cys639Ser | p.C639S | O15265 | protein_coding | tolerated(0.43) | benign(0.011) | TCGA-D8-A1X6-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
ATXN7 | deletion | Frame_Shift_Del | novel | c.402_411delNNNNNNNNNN | p.Ile135SerfsTer85 | p.I135Sfs*85 | O15265 | protein_coding | | | TCGA-A7-A6VY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | CR |
ATXN7 | insertion | Frame_Shift_Ins | novel | c.2820_2821insCTTTTCTCTAAGTTAGAAACCCAGGCCTGCA | p.Thr941LeufsTer71 | p.T941Lfs*71 | O15265 | protein_coding | | | TCGA-BH-A0E7-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
ATXN7 | SNV | Missense_Mutation | rs774403353 | c.1754C>T | p.Pro585Leu | p.P585L | O15265 | protein_coding | tolerated(0.12) | possibly_damaging(0.742) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ATXN7 | SNV | Missense_Mutation | novel | c.1649N>C | p.Met550Thr | p.M550T | O15265 | protein_coding | deleterious(0) | possibly_damaging(0.447) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
ATXN7 | SNV | Missense_Mutation | novel | c.1600N>G | p.Tyr534Asp | p.Y534D | O15265 | protein_coding | deleterious(0) | probably_damaging(0.97) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ATXN7 | SNV | Missense_Mutation | | c.2546N>A | p.Ser849Asn | p.S849N | O15265 | protein_coding | tolerated(0.19) | benign(0.006) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ATXN7 | SNV | Missense_Mutation | | c.905N>T | p.Ser302Leu | p.S302L | O15265 | protein_coding | deleterious(0.01) | benign(0.406) | TCGA-A6-6649-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | fluorouracil | SD |