GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0043254111 | Esophagus | ESCC | regulation of protein-containing complex assembly | 278/8552 | 428/18723 | 3.81e-16 | 2.77e-14 | 278 |
GO:1902903111 | Esophagus | ESCC | regulation of supramolecular fiber organization | 237/8552 | 383/18723 | 9.06e-11 | 2.75e-09 | 237 |
GO:0051258111 | Esophagus | ESCC | protein polymerization | 183/8552 | 297/18723 | 1.94e-08 | 3.75e-07 | 183 |
GO:000701527 | Esophagus | ESCC | actin filament organization | 259/8552 | 442/18723 | 2.37e-08 | 4.50e-07 | 259 |
GO:003253520 | Esophagus | ESCC | regulation of cellular component size | 227/8552 | 383/18723 | 4.77e-08 | 8.60e-07 | 227 |
GO:0032970111 | Esophagus | ESCC | regulation of actin filament-based process | 231/8552 | 397/18723 | 2.91e-07 | 4.20e-06 | 231 |
GO:0032956111 | Esophagus | ESCC | regulation of actin cytoskeleton organization | 210/8552 | 358/18723 | 4.40e-07 | 6.00e-06 | 210 |
GO:0032271111 | Esophagus | ESCC | regulation of protein polymerization | 143/8552 | 233/18723 | 9.21e-07 | 1.17e-05 | 143 |
GO:011005327 | Esophagus | ESCC | regulation of actin filament organization | 166/8552 | 278/18723 | 1.54e-06 | 1.85e-05 | 166 |
GO:005101727 | Esophagus | ESCC | actin filament bundle assembly | 100/8552 | 157/18723 | 3.87e-06 | 4.17e-05 | 100 |
GO:006157227 | Esophagus | ESCC | actin filament bundle organization | 101/8552 | 161/18723 | 9.22e-06 | 8.82e-05 | 101 |
GO:000815420 | Esophagus | ESCC | actin polymerization or depolymerization | 130/8552 | 218/18723 | 2.19e-05 | 1.88e-04 | 130 |
GO:00301984 | Esophagus | ESCC | extracellular matrix organization | 171/8552 | 301/18723 | 6.08e-05 | 4.67e-04 | 171 |
GO:0030041110 | Esophagus | ESCC | actin filament polymerization | 114/8552 | 191/18723 | 6.46e-05 | 4.92e-04 | 114 |
GO:00430624 | Esophagus | ESCC | extracellular structure organization | 171/8552 | 302/18723 | 7.73e-05 | 5.76e-04 | 171 |
GO:00452294 | Esophagus | ESCC | external encapsulating structure organization | 172/8552 | 304/18723 | 7.80e-05 | 5.80e-04 | 172 |
GO:000806419 | Esophagus | ESCC | regulation of actin polymerization or depolymerization | 112/8552 | 188/18723 | 8.31e-05 | 6.06e-04 | 112 |
GO:003083218 | Esophagus | ESCC | regulation of actin filament length | 112/8552 | 189/18723 | 1.13e-04 | 7.85e-04 | 112 |
GO:003083320 | Esophagus | ESCC | regulation of actin filament polymerization | 103/8552 | 172/18723 | 1.19e-04 | 8.15e-04 | 103 |
GO:003003820 | Esophagus | ESCC | contractile actin filament bundle assembly | 67/8552 | 106/18723 | 2.03e-04 | 1.28e-03 | 67 |
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 |
ELN | SNV | Missense_Mutation | novel | c.418N>G | p.Lys140Glu | p.K140E | | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.987) | TCGA-A2-A3XS-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | PD |
ELN | SNV | Missense_Mutation | rs782282589 | c.343N>A | p.Val115Ile | p.V115I | | protein_coding | tolerated_low_confidence(0.07) | benign(0.003) | TCGA-A8-A08F-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
ELN | SNV | Missense_Mutation | | c.178G>C | p.Gly60Arg | p.G60R | | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.776) | TCGA-AN-A0FN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ELN | SNV | Missense_Mutation | | c.1519N>C | p.Gly507Arg | p.G507R | | protein_coding | deleterious_low_confidence(0) | benign(0.239) | TCGA-AR-A0TP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
ELN | SNV | Missense_Mutation | novel | c.1900N>G | p.Gln634Glu | p.Q634E | | protein_coding | | unknown(0) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ELN | SNV | Missense_Mutation | | c.1897T>C | p.Ser633Pro | p.S633P | | protein_coding | | unknown(0) | TCGA-E9-A247-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
ELN | SNV | Missense_Mutation | | c.1546N>A | p.Pro516Thr | p.P516T | | protein_coding | deleterious_low_confidence(0) | benign(0) | TCGA-LL-A441-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
ELN | insertion | Nonsense_Mutation | novel | c.1847_1848insCACACAGCAAATCTATGCCAGGGCCGAGGCTCCAGCCCTCTTTCCATA | p.Gly616_Val617insThrGlnGlnIleTyrAlaArgAlaGluAlaProAlaLeuPheProTer | p.G616_V617insTQQIYARAEAPALFP* | | protein_coding | | | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
ELN | insertion | In_Frame_Ins | novel | c.609_610insGCTACTTGGGAGGCTGAGGCAGGAGGATTG | p.Pro203_Leu204insAlaThrTrpGluAlaGluAlaGlyGlyLeu | p.P203_L204insATWEAEAGGL | | protein_coding | | | TCGA-A2-A0EX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
ELN | insertion | In_Frame_Ins | novel | c.903_904insCTCCAT | p.Pro301_Ala302insLeuHis | p.P301_A302insLH | | protein_coding | | | TCGA-AN-A0FW-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |