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: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:000838022 | Liver | HCC | RNA splicing | 313/7958 | 434/18723 | 1.36e-36 | 1.73e-33 | 313 |
GO:000037522 | Liver | HCC | RNA splicing, via transesterification reactions | 228/7958 | 324/18723 | 1.47e-24 | 4.06e-22 | 228 |
GO:000037722 | Liver | HCC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 224/7958 | 320/18723 | 1.16e-23 | 2.62e-21 | 224 |
GO:000039822 | Liver | HCC | mRNA splicing, via spliceosome | 224/7958 | 320/18723 | 1.16e-23 | 2.62e-21 | 224 |
GO:000838020 | Oral cavity | OSCC | RNA splicing | 308/7305 | 434/18723 | 2.43e-42 | 7.70e-39 | 308 |
GO:000037519 | Oral cavity | OSCC | RNA splicing, via transesterification reactions | 225/7305 | 324/18723 | 5.20e-29 | 2.99e-26 | 225 |
GO:000037719 | Oral cavity | OSCC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 221/7305 | 320/18723 | 5.50e-28 | 2.18e-25 | 221 |
GO:000039819 | Oral cavity | OSCC | mRNA splicing, via spliceosome | 221/7305 | 320/18723 | 5.50e-28 | 2.18e-25 | 221 |
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 |
TXNL4B | SNV | Missense_Mutation | | c.200N>A | p.Ala67Glu | p.A67E | Q9NX01 | protein_coding | tolerated(0.06) | benign(0.001) | TCGA-A2-A0CR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
TXNL4B | insertion | Nonsense_Mutation | novel | c.337_338insGATTTATTAGAAGGAGAGGGTAGGTGC | p.Ile113delinsArgPheIleArgArgArgGlyTerValLeu | p.I113delinsRFIRRRG*VL | Q9NX01 | protein_coding | | | TCGA-A8-A07P-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | SD |
TXNL4B | insertion | Nonsense_Mutation | novel | c.136_137insGGAGAGAGACCTAACCCAGAA | p.Ser46delinsTrpArgGluThrTerProArgThr | p.S46delinsWRET*PRT | Q9NX01 | protein_coding | | | TCGA-AO-A0J9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |
TXNL4B | insertion | Frame_Shift_Ins | novel | c.136_137insGTGGAGAGAGACCTAACCCAGAA | p.Ser46CysfsTer15 | p.S46Cfs*15 | Q9NX01 | protein_coding | | | TCGA-BH-A0BJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
TXNL4B | insertion | Nonsense_Mutation | novel | c.136_137insGGAGAGAGACCTAACCCAGAA | p.Ser46delinsTrpArgGluThrTerProArgThr | p.S46delinsWRET*PRT | Q9NX01 | protein_coding | | | TCGA-BH-A0EB-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
TXNL4B | SNV | Missense_Mutation | | c.202N>C | p.Val68Leu | p.V68L | Q9NX01 | protein_coding | tolerated(0.27) | benign(0.003) | TCGA-FU-A23L-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TXNL4B | SNV | Missense_Mutation | | c.200C>T | p.Ala67Val | p.A67V | Q9NX01 | protein_coding | deleterious(0.02) | benign(0.012) | TCGA-D5-5539-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5-fu | PD |
TXNL4B | SNV | Missense_Mutation | | c.252N>A | p.Phe84Leu | p.F84L | Q9NX01 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
TXNL4B | SNV | Missense_Mutation | | c.263N>G | p.Gln88Arg | p.Q88R | Q9NX01 | protein_coding | tolerated(0.09) | benign(0.023) | TCGA-D1-A160-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TXNL4B | SNV | Missense_Mutation | novel | c.371T>C | p.Met124Thr | p.M124T | Q9NX01 | protein_coding | tolerated(0.13) | benign(0.18) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |