GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0009896111 | Esophagus | ESCC | positive regulation of catabolic process | 332/8552 | 492/18723 | 4.36e-23 | 9.22e-21 | 332 |
GO:0031331111 | Esophagus | ESCC | positive regulation of cellular catabolic process | 292/8552 | 427/18723 | 8.67e-22 | 1.53e-19 | 292 |
GO:0006401110 | Esophagus | ESCC | RNA catabolic process | 204/8552 | 278/18723 | 3.39e-21 | 5.66e-19 | 204 |
GO:014005313 | Esophagus | ESCC | mitochondrial gene expression | 93/8552 | 108/18723 | 1.96e-18 | 2.03e-16 | 93 |
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:0016049110 | Esophagus | ESCC | cell growth | 289/8552 | 482/18723 | 1.29e-10 | 3.77e-09 | 289 |
GO:000155819 | Esophagus | ESCC | regulation of cell growth | 248/8552 | 414/18723 | 2.97e-09 | 6.45e-08 | 248 |
GO:00009592 | Esophagus | ESCC | mitochondrial RNA metabolic process | 39/8552 | 49/18723 | 1.20e-06 | 1.49e-05 | 39 |
GO:00009631 | Esophagus | ESCC | mitochondrial RNA processing | 19/8552 | 20/18723 | 3.83e-06 | 4.14e-05 | 19 |
GO:003239214 | Esophagus | ESCC | DNA geometric change | 62/8552 | 90/18723 | 7.02e-06 | 7.04e-05 | 62 |
GO:003250813 | Esophagus | ESCC | DNA duplex unwinding | 58/8552 | 84/18723 | 1.23e-05 | 1.14e-04 | 58 |
GO:00311233 | Esophagus | ESCC | RNA 3'-end processing | 76/8552 | 116/18723 | 1.25e-05 | 1.15e-04 | 76 |
GO:003030710 | Esophagus | ESCC | positive regulation of cell growth | 100/8552 | 166/18723 | 1.07e-04 | 7.55e-04 | 100 |
GO:00710252 | Esophagus | ESCC | RNA surveillance | 14/8552 | 15/18723 | 1.47e-04 | 9.85e-04 | 14 |
GO:00705848 | Esophagus | ESCC | mitochondrion morphogenesis | 18/8552 | 21/18723 | 1.81e-04 | 1.16e-03 | 18 |
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 |
SUPV3L1 | SNV | Missense_Mutation | rs776187314 | c.724N>A | p.Glu242Lys | p.E242K | Q8IYB8 | protein_coding | tolerated(0.72) | benign(0.006) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SUPV3L1 | SNV | Missense_Mutation | novel | c.952N>A | p.His318Asn | p.H318N | Q8IYB8 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SUPV3L1 | SNV | Missense_Mutation | | c.1427N>T | p.Ser476Leu | p.S476L | Q8IYB8 | protein_coding | deleterious(0) | benign(0.04) | TCGA-EW-A1OV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | epirubicin | SD |
SUPV3L1 | insertion | Nonsense_Mutation | novel | c.333_334insCAATAACAGGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGG | p.Asp112GlnfsTer2 | p.D112Qfs*2 | Q8IYB8 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SUPV3L1 | insertion | Frame_Shift_Ins | novel | c.1175_1176insT | p.Ala393SerfsTer20 | p.A393Sfs*20 | Q8IYB8 | protein_coding | | | TCGA-AO-A0J9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |
SUPV3L1 | insertion | In_Frame_Ins | novel | c.1178_1179insACCAAGAGTCCTCCATTCTGGGGAACCCATTAGTCCTAGACAAAC | p.Ala393_Val394insProArgValLeuHisSerGlyGluProIleSerProArgGlnThr | p.A393_V394insPRVLHSGEPISPRQT | Q8IYB8 | protein_coding | | | TCGA-AO-A0J9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |
SUPV3L1 | insertion | Frame_Shift_Ins | novel | c.931_931+1insCTCCAAA | p.Gly311AlafsTer7 | p.G311Afs*7 | Q8IYB8 | protein_coding | | | TCGA-AR-A0TU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Doxorubicin | SD |
SUPV3L1 | SNV | Missense_Mutation | | c.1873C>T | p.Leu625Phe | p.L625F | Q8IYB8 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-DS-A1OC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | gemcitabine | SD |
SUPV3L1 | SNV | Missense_Mutation | | c.85N>T | p.Arg29Cys | p.R29C | Q8IYB8 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.549) | TCGA-EK-A2RJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SUPV3L1 | SNV | Missense_Mutation | | c.2254N>C | p.Glu752Gln | p.E752Q | Q8IYB8 | protein_coding | tolerated(1) | benign(0) | TCGA-EX-A1H6-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |