GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0008380111 | Esophagus | ESCC | RNA splicing | 336/8552 | 434/18723 | 1.74e-42 | 3.67e-39 | 336 |
GO:003447015 | Esophagus | ESCC | ncRNA processing | 300/8552 | 395/18723 | 3.09e-35 | 3.26e-32 | 300 |
GO:003466012 | Esophagus | ESCC | ncRNA metabolic process | 346/8552 | 485/18723 | 4.35e-31 | 2.51e-28 | 346 |
GO:0000375111 | Esophagus | ESCC | RNA splicing, via transesterification reactions | 248/8552 | 324/18723 | 3.05e-30 | 1.49e-27 | 248 |
GO:0000377111 | Esophagus | ESCC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 244/8552 | 320/18723 | 2.52e-29 | 1.07e-26 | 244 |
GO:0000398111 | Esophagus | ESCC | mRNA splicing, via spliceosome | 244/8552 | 320/18723 | 2.52e-29 | 1.07e-26 | 244 |
GO:001820514 | Esophagus | ESCC | peptidyl-lysine modification | 259/8552 | 376/18723 | 3.90e-20 | 5.26e-18 | 259 |
GO:00607595 | Esophagus | ESCC | regulation of response to cytokine stimulus | 103/8552 | 162/18723 | 3.14e-06 | 3.53e-05 | 103 |
GO:00019595 | Esophagus | ESCC | regulation of cytokine-mediated signaling pathway | 95/8552 | 150/18723 | 9.48e-06 | 9.04e-05 | 95 |
GO:000838012 | Liver | Cirrhotic | RNA splicing | 229/4634 | 434/18723 | 9.13e-37 | 2.86e-33 | 229 |
GO:000037512 | Liver | Cirrhotic | RNA splicing, via transesterification reactions | 175/4634 | 324/18723 | 5.95e-30 | 7.47e-27 | 175 |
GO:000037712 | Liver | Cirrhotic | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 172/4634 | 320/18723 | 4.02e-29 | 3.60e-26 | 172 |
GO:000039812 | Liver | Cirrhotic | mRNA splicing, via spliceosome | 172/4634 | 320/18723 | 4.02e-29 | 3.60e-26 | 172 |
GO:00344701 | Liver | Cirrhotic | ncRNA processing | 158/4634 | 395/18723 | 1.09e-11 | 6.96e-10 | 158 |
GO:00346603 | Liver | Cirrhotic | ncRNA metabolic process | 173/4634 | 485/18723 | 3.64e-08 | 1.21e-06 | 173 |
GO:00182051 | Liver | Cirrhotic | peptidyl-lysine modification | 134/4634 | 376/18723 | 1.29e-06 | 2.59e-05 | 134 |
GO:0016074 | Liver | Cirrhotic | sno(s)RNA metabolic process | 9/4634 | 16/18723 | 6.94e-03 | 3.38e-02 | 9 |
GO:0043144 | Liver | Cirrhotic | sno(s)RNA processing | 8/4634 | 14/18723 | 9.65e-03 | 4.35e-02 | 8 |
GO:00344702 | Liver | HCC | ncRNA processing | 293/7958 | 395/18723 | 4.26e-38 | 6.76e-35 | 293 |
GO:000838022 | Liver | HCC | RNA splicing | 313/7958 | 434/18723 | 1.36e-36 | 1.73e-33 | 313 |
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 |
RNF113A | SNV | Missense_Mutation | | c.334N>C | p.Glu112Gln | p.E112Q | O15541 | protein_coding | tolerated(0.29) | possibly_damaging(0.685) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
RNF113A | SNV | Missense_Mutation | | c.201N>G | p.Ile67Met | p.I67M | O15541 | protein_coding | tolerated(0.08) | benign(0.045) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RNF113A | SNV | Missense_Mutation | | c.622A>G | p.Thr208Ala | p.T208A | O15541 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AN-A0AM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RNF113A | SNV | Missense_Mutation | | c.385G>A | p.Asp129Asn | p.D129N | O15541 | protein_coding | deleterious(0.01) | possibly_damaging(0.808) | TCGA-BH-A0DZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD |
RNF113A | SNV | Missense_Mutation | | c.480N>T | p.Gln160His | p.Q160H | O15541 | protein_coding | tolerated(0.2) | benign(0.01) | TCGA-E2-A154-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
RNF113A | SNV | Missense_Mutation | | c.383N>A | p.Arg128His | p.R128H | O15541 | protein_coding | tolerated(0.19) | benign(0.003) | TCGA-GM-A2DH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | CR |
RNF113A | insertion | In_Frame_Ins | novel | c.942_943insACAGGTGTGAGCCACCGAGCCCGGCTCCCTTGCTGTCTTGGAAGC | p.Ile314_Ala315insThrGlyValSerHisArgAlaArgLeuProCysCysLeuGlySer | p.I314_A315insTGVSHRARLPCCLGS | O15541 | protein_coding | | | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | | SD |
RNF113A | insertion | Frame_Shift_Ins | novel | c.823_824insGGATTTTTAGCCCTAGGATAACCATTTTGCCTGTGTTT | p.Thr275ArgfsTer52 | p.T275Rfs*52 | O15541 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RNF113A | insertion | Nonsense_Mutation | novel | c.655_656insGTAGAGAAAGTGACAGAGCAGGCGGGTGGTGAAGTAGGGTCCTGGA | p.Phe219CysfsTer11 | p.F219Cfs*11 | O15541 | protein_coding | | | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
RNF113A | SNV | Missense_Mutation | novel | c.64N>T | p.Pro22Ser | p.P22S | O15541 | protein_coding | tolerated(0.74) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |