GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0022613111 | Esophagus | ESCC | ribonucleoprotein complex biogenesis | 365/8552 | 463/18723 | 1.74e-49 | 1.11e-45 | 365 |
GO:0042254111 | Esophagus | ESCC | ribosome biogenesis | 252/8552 | 299/18723 | 3.27e-44 | 1.04e-40 | 252 |
GO:003447015 | Esophagus | ESCC | ncRNA processing | 300/8552 | 395/18723 | 3.09e-35 | 3.26e-32 | 300 |
GO:0016072110 | Esophagus | ESCC | rRNA metabolic process | 197/8552 | 236/18723 | 1.31e-33 | 1.18e-30 | 197 |
GO:0006364110 | Esophagus | ESCC | rRNA processing | 189/8552 | 225/18723 | 4.88e-33 | 3.87e-30 | 189 |
GO:003466012 | Esophagus | ESCC | ncRNA metabolic process | 346/8552 | 485/18723 | 4.35e-31 | 2.51e-28 | 346 |
GO:014005313 | Esophagus | ESCC | mitochondrial gene expression | 93/8552 | 108/18723 | 1.96e-18 | 2.03e-16 | 93 |
GO:0006417111 | Esophagus | ESCC | regulation of translation | 304/8552 | 468/18723 | 1.53e-17 | 1.33e-15 | 304 |
GO:003254314 | Esophagus | ESCC | mitochondrial translation | 68/8552 | 76/18723 | 1.02e-15 | 6.86e-14 | 68 |
GO:0045727111 | Esophagus | ESCC | positive regulation of translation | 107/8552 | 136/18723 | 2.79e-15 | 1.68e-13 | 107 |
GO:0034250111 | Esophagus | ESCC | positive regulation of cellular amide metabolic process | 123/8552 | 162/18723 | 3.32e-15 | 1.93e-13 | 123 |
GO:00080333 | Esophagus | ESCC | tRNA processing | 92/8552 | 127/18723 | 7.83e-10 | 1.93e-08 | 92 |
GO:00063992 | Esophagus | ESCC | tRNA metabolic process | 122/8552 | 179/18723 | 9.03e-10 | 2.19e-08 | 122 |
GO:00094512 | Esophagus | ESCC | RNA modification | 114/8552 | 167/18723 | 2.76e-09 | 6.04e-08 | 114 |
GO:00009592 | Esophagus | ESCC | mitochondrial RNA metabolic process | 39/8552 | 49/18723 | 1.20e-06 | 1.49e-05 | 39 |
GO:00701292 | Esophagus | ESCC | regulation of mitochondrial translation | 22/8552 | 24/18723 | 2.82e-06 | 3.21e-05 | 22 |
GO:00009631 | Esophagus | ESCC | mitochondrial RNA processing | 19/8552 | 20/18723 | 3.83e-06 | 4.14e-05 | 19 |
GO:00064002 | Esophagus | ESCC | tRNA modification | 62/8552 | 90/18723 | 7.02e-06 | 7.04e-05 | 62 |
GO:00621252 | Esophagus | ESCC | regulation of mitochondrial gene expression | 24/8552 | 28/18723 | 1.37e-05 | 1.25e-04 | 24 |
GO:00701312 | Esophagus | ESCC | positive regulation of mitochondrial translation | 14/8552 | 15/18723 | 1.47e-04 | 9.85e-04 | 14 |
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 |
RPUSD4 | SNV | Missense_Mutation | | c.770N>T | p.Ala257Val | p.A257V | Q96CM3 | protein_coding | deleterious(0.05) | possibly_damaging(0.824) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RPUSD4 | SNV | Missense_Mutation | rs369015729 | c.694N>A | p.Val232Met | p.V232M | Q96CM3 | protein_coding | tolerated(0.09) | benign(0.177) | TCGA-BH-A0HQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
RPUSD4 | SNV | Missense_Mutation | | c.718G>C | p.Ala240Pro | p.A240P | Q96CM3 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-GM-A2DL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR |
RPUSD4 | insertion | Frame_Shift_Ins | novel | c.819_820insGTGGGCACCCTGAAGAAGCTGGGGCTAGAACAGTCGAAGG | p.His274ValfsTer26 | p.H274Vfs*26 | Q96CM3 | protein_coding | | | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
RPUSD4 | insertion | Nonsense_Mutation | novel | c.1090_1091insTCATGTCATCTGCTTGTAATTAGTTACCATCTGAGCTTGA | p.Asp364ValfsTer8 | p.D364Vfs*8 | Q96CM3 | protein_coding | | | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
RPUSD4 | SNV | Missense_Mutation | | c.703C>T | p.Arg235Trp | p.R235W | Q96CM3 | protein_coding | deleterious(0) | probably_damaging(0.985) | TCGA-EA-A3HS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
RPUSD4 | SNV | Missense_Mutation | rs142091462 | c.451C>T | p.Arg151Trp | p.R151W | Q96CM3 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
RPUSD4 | SNV | Missense_Mutation | rs574615517 | c.598N>A | p.Val200Met | p.V200M | Q96CM3 | protein_coding | deleterious(0) | probably_damaging(0.918) | TCGA-AA-3831-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
RPUSD4 | SNV | Missense_Mutation | novel | c.487N>A | p.Ala163Thr | p.A163T | Q96CM3 | protein_coding | deleterious(0.04) | possibly_damaging(0.558) | TCGA-AA-3950-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RPUSD4 | SNV | Missense_Mutation | | c.104N>T | p.Ala35Val | p.A35V | Q96CM3 | protein_coding | tolerated(0.09) | benign(0.265) | TCGA-AA-3966-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |