GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0006401110 | Esophagus | ESCC | RNA catabolic process | 204/8552 | 278/18723 | 3.39e-21 | 5.66e-19 | 204 |
GO:0034655110 | Esophagus | ESCC | nucleobase-containing compound catabolic process | 272/8552 | 407/18723 | 2.92e-18 | 2.90e-16 | 272 |
GO:0006402110 | Esophagus | ESCC | mRNA catabolic process | 170/8552 | 232/18723 | 8.70e-18 | 8.00e-16 | 170 |
GO:004670018 | Esophagus | ESCC | heterocycle catabolic process | 286/8552 | 445/18723 | 1.12e-15 | 7.47e-14 | 286 |
GO:004427019 | Esophagus | ESCC | cellular nitrogen compound catabolic process | 288/8552 | 451/18723 | 3.03e-15 | 1.79e-13 | 288 |
GO:001943918 | Esophagus | ESCC | aromatic compound catabolic process | 295/8552 | 467/18723 | 1.09e-14 | 5.98e-13 | 295 |
GO:190136118 | Esophagus | ESCC | organic cyclic compound catabolic process | 307/8552 | 495/18723 | 9.99e-14 | 4.80e-12 | 307 |
GO:000095618 | Esophagus | ESCC | nuclear-transcribed mRNA catabolic process | 88/8552 | 112/18723 | 9.41e-13 | 4.14e-11 | 88 |
GO:000018414 | Esophagus | ESCC | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 32/8552 | 37/18723 | 2.96e-07 | 4.23e-06 | 32 |
GO:00002913 | Esophagus | ESCC | nuclear-transcribed mRNA catabolic process, exonucleolytic | 18/8552 | 19/18723 | 8.00e-06 | 7.78e-05 | 18 |
GO:00344271 | Esophagus | ESCC | nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' | 10/8552 | 11/18723 | 2.54e-03 | 1.08e-02 | 10 |
GO:004427021 | Liver | HCC | cellular nitrogen compound catabolic process | 303/7958 | 451/18723 | 9.76e-27 | 3.64e-24 | 303 |
GO:004670021 | Liver | HCC | heterocycle catabolic process | 299/7958 | 445/18723 | 2.07e-26 | 7.29e-24 | 299 |
GO:190136121 | Liver | HCC | organic cyclic compound catabolic process | 325/7958 | 495/18723 | 6.52e-26 | 2.18e-23 | 325 |
GO:001943921 | Liver | HCC | aromatic compound catabolic process | 309/7958 | 467/18723 | 1.56e-25 | 4.94e-23 | 309 |
GO:000640121 | Liver | HCC | RNA catabolic process | 201/7958 | 278/18723 | 3.88e-24 | 1.02e-21 | 201 |
GO:003465521 | Liver | HCC | nucleobase-containing compound catabolic process | 273/7958 | 407/18723 | 4.84e-24 | 1.23e-21 | 273 |
GO:000640221 | Liver | HCC | mRNA catabolic process | 169/7958 | 232/18723 | 4.50e-21 | 6.96e-19 | 169 |
GO:000095621 | Liver | HCC | nuclear-transcribed mRNA catabolic process | 84/7958 | 112/18723 | 2.54e-12 | 1.18e-10 | 84 |
GO:000018411 | Liver | HCC | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 29/7958 | 37/18723 | 9.37e-06 | 1.09e-04 | 29 |
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 |
SKIV2L | SNV | Missense_Mutation | | c.1364N>T | p.Ala455Val | p.A455V | Q15477 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SKIV2L | SNV | Missense_Mutation | rs746481824 | c.58N>T | p.Arg20Trp | p.R20W | Q15477 | protein_coding | deleterious(0.01) | benign(0.18) | TCGA-AO-A0JC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
SKIV2L | SNV | Missense_Mutation | novel | c.2267N>C | p.Arg756Pro | p.R756P | Q15477 | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
SKIV2L | SNV | Missense_Mutation | rs746481824 | c.58C>T | p.Arg20Trp | p.R20W | Q15477 | protein_coding | deleterious(0.01) | benign(0.18) | TCGA-B6-A3ZX-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |
SKIV2L | SNV | Missense_Mutation | | c.197N>T | p.Pro66Leu | p.P66L | Q15477 | protein_coding | tolerated(0.07) | benign(0.17) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
SKIV2L | SNV | Missense_Mutation | | c.2332N>C | p.Asp778His | p.D778H | Q15477 | protein_coding | tolerated(0.17) | benign(0.157) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SKIV2L | SNV | Missense_Mutation | rs375183559 | c.3623N>A | p.Arg1208His | p.R1208H | Q15477 | protein_coding | deleterious(0) | possibly_damaging(0.757) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SKIV2L | insertion | In_Frame_Ins | novel | c.2269_2270insGCACATGCCACACAGGCCTGGCTAATTTTTTTTTTTTTT | p.Val757delinsGlyThrCysHisThrGlyLeuAlaAsnPhePhePhePheLeu | p.V757delinsGTCHTGLANFFFFL | Q15477 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
SKIV2L | deletion | Frame_Shift_Del | novel | c.709delN | p.Arg238GlufsTer23 | p.R238Efs*23 | Q15477 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
SKIV2L | deletion | Frame_Shift_Del | novel | c.2311delN | p.Ser771LeufsTer19 | p.S771Lfs*19 | Q15477 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |