GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00062604 | Esophagus | ESCC | DNA replication | 181/8552 | 260/18723 | 3.55e-15 | 2.05e-13 | 181 |
GO:007189716 | Esophagus | ESCC | DNA biosynthetic process | 127/8552 | 180/18723 | 1.04e-11 | 3.85e-10 | 127 |
GO:00062612 | Esophagus | ESCC | DNA-dependent DNA replication | 100/8552 | 151/18723 | 2.61e-07 | 3.94e-06 | 100 |
GO:00063024 | Esophagus | ESCC | double-strand break repair | 152/8552 | 251/18723 | 1.33e-06 | 1.62e-05 | 152 |
GO:00062754 | Esophagus | ESCC | regulation of DNA replication | 73/8552 | 107/18723 | 1.97e-06 | 2.28e-05 | 73 |
GO:00062843 | Esophagus | ESCC | base-excision repair | 33/8552 | 43/18723 | 3.25e-05 | 2.69e-04 | 33 |
GO:00063101 | Esophagus | ESCC | DNA recombination | 168/8552 | 305/18723 | 5.58e-04 | 3.05e-03 | 168 |
GO:00000021 | Esophagus | ESCC | mitochondrial genome maintenance | 17/8552 | 21/18723 | 1.03e-03 | 5.19e-03 | 17 |
GO:0006303 | Esophagus | ESCC | double-strand break repair via nonhomologous end joining | 43/8552 | 66/18723 | 1.10e-03 | 5.53e-03 | 43 |
GO:00062661 | Esophagus | ESCC | DNA ligation | 13/8552 | 16/18723 | 4.05e-03 | 1.62e-02 | 13 |
GO:00007241 | Esophagus | ESCC | double-strand break repair via homologous recombination | 79/8552 | 138/18723 | 4.05e-03 | 1.62e-02 | 79 |
GO:00007251 | Esophagus | ESCC | recombinational repair | 80/8552 | 140/18723 | 4.10e-03 | 1.63e-02 | 80 |
GO:0090329 | Esophagus | ESCC | regulation of DNA-dependent DNA replication | 30/8552 | 46/18723 | 5.91e-03 | 2.18e-02 | 30 |
GO:0006287 | Esophagus | ESCC | base-excision repair, gap-filling | 11/8552 | 14/18723 | 1.30e-02 | 4.27e-02 | 11 |
GO:00062601 | Liver | HCC | DNA replication | 146/7958 | 260/18723 | 5.68e-06 | 7.02e-05 | 146 |
GO:00718975 | Liver | HCC | DNA biosynthetic process | 99/7958 | 180/18723 | 4.66e-04 | 3.08e-03 | 99 |
GO:00063021 | Liver | HCC | double-strand break repair | 131/7958 | 251/18723 | 1.17e-03 | 6.54e-03 | 131 |
GO:00062751 | Liver | HCC | regulation of DNA replication | 60/7958 | 107/18723 | 3.15e-03 | 1.46e-02 | 60 |
GO:0006284 | Liver | HCC | base-excision repair | 27/7958 | 43/18723 | 5.79e-03 | 2.40e-02 | 27 |
GO:0006261 | Liver | HCC | DNA-dependent DNA replication | 80/7958 | 151/18723 | 5.91e-03 | 2.44e-02 | 80 |
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 |
LIG3 | SNV | Missense_Mutation | | c.2392N>C | p.Asp798His | p.D798H | P49916 | protein_coding | tolerated(0.11) | possibly_damaging(0.468) | TCGA-A7-A0DB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
LIG3 | SNV | Missense_Mutation | rs749058293 | c.1757N>G | p.Gln586Arg | p.Q586R | P49916 | protein_coding | tolerated(0.09) | benign(0.06) | TCGA-A8-A085-01 | Breast | breast invasive carcinoma | Male | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
LIG3 | SNV | Missense_Mutation | rs761685440 | c.1427N>T | p.Ser476Leu | p.S476L | P49916 | protein_coding | deleterious(0.01) | benign(0.068) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
LIG3 | SNV | Missense_Mutation | novel | c.2035N>A | p.Asp679Asn | p.D679N | P49916 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AC-A62Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LIG3 | SNV | Missense_Mutation | | c.1244N>C | p.Leu415Ser | p.L415S | P49916 | protein_coding | deleterious(0.02) | probably_damaging(0.93) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
LIG3 | SNV | Missense_Mutation | | c.1013N>G | p.Pro338Arg | p.P338R | P49916 | protein_coding | tolerated(0.34) | benign(0.102) | TCGA-AN-A0FL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
LIG3 | SNV | Missense_Mutation | | c.707N>G | p.Ser236Cys | p.S236C | P49916 | protein_coding | deleterious(0.02) | possibly_damaging(0.599) | TCGA-BH-A18M-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
LIG3 | SNV | Missense_Mutation | novel | c.194N>A | p.Arg65Lys | p.R65K | P49916 | protein_coding | tolerated_low_confidence(0.62) | benign(0) | TCGA-E2-A574-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
LIG3 | insertion | Nonsense_Mutation | novel | c.2755_2756insGCTCTTAGGCTGTATATGTATTCTCCACCCCACTGTCC | p.Glu919GlyfsTer3 | p.E919Gfs*3 | P49916 | protein_coding | | | TCGA-A2-A0EX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
LIG3 | insertion | In_Frame_Ins | novel | c.1849_1850insAAAGGCAAGCTCCTATGTCAGCTCAGGTGATTA | p.Leu617delinsGlnArgGlnAlaProMetSerAlaGlnValIleIle | p.L617delinsQRQAPMSAQVII | P49916 | protein_coding | | | TCGA-B6-A0IM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |