GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0097193111 | Esophagus | ESCC | intrinsic apoptotic signaling pathway | 222/8552 | 288/18723 | 5.87e-28 | 2.02e-25 | 222 |
GO:0097191111 | Esophagus | ESCC | extrinsic apoptotic signaling pathway | 159/8552 | 219/18723 | 4.12e-16 | 2.94e-14 | 159 |
GO:0010821110 | Esophagus | ESCC | regulation of mitochondrion organization | 107/8552 | 144/18723 | 2.31e-12 | 9.41e-11 | 107 |
GO:0008637110 | Esophagus | ESCC | apoptotic mitochondrial changes | 83/8552 | 107/18723 | 1.43e-11 | 5.08e-10 | 83 |
GO:001082215 | Esophagus | ESCC | positive regulation of mitochondrion organization | 58/8552 | 74/18723 | 8.55e-09 | 1.73e-07 | 58 |
GO:000183619 | Esophagus | ESCC | release of cytochrome c from mitochondria | 47/8552 | 59/18723 | 9.02e-08 | 1.51e-06 | 47 |
GO:009019914 | Esophagus | ESCC | regulation of release of cytochrome c from mitochondria | 38/8552 | 48/18723 | 2.11e-06 | 2.43e-05 | 38 |
GO:005188110 | Esophagus | ESCC | regulation of mitochondrial membrane potential | 51/8552 | 74/18723 | 4.42e-05 | 3.51e-04 | 51 |
GO:00902004 | Esophagus | ESCC | positive regulation of release of cytochrome c from mitochondria | 22/8552 | 28/18723 | 3.95e-04 | 2.26e-03 | 22 |
GO:009719322 | Liver | HCC | intrinsic apoptotic signaling pathway | 184/7958 | 288/18723 | 1.50e-13 | 8.32e-12 | 184 |
GO:009719122 | Liver | HCC | extrinsic apoptotic signaling pathway | 143/7958 | 219/18723 | 6.99e-12 | 2.97e-10 | 143 |
GO:001082112 | Liver | HCC | regulation of mitochondrion organization | 96/7958 | 144/18723 | 3.82e-09 | 1.02e-07 | 96 |
GO:000863712 | Liver | HCC | apoptotic mitochondrial changes | 70/7958 | 107/18723 | 1.39e-06 | 2.01e-05 | 70 |
GO:001082211 | Liver | HCC | positive regulation of mitochondrion organization | 48/7958 | 74/18723 | 8.50e-05 | 7.46e-04 | 48 |
GO:000183612 | Liver | HCC | release of cytochrome c from mitochondria | 39/7958 | 59/18723 | 2.14e-04 | 1.63e-03 | 39 |
GO:005188112 | Liver | HCC | regulation of mitochondrial membrane potential | 45/7958 | 74/18723 | 1.13e-03 | 6.43e-03 | 45 |
GO:00901995 | Liver | HCC | regulation of release of cytochrome c from mitochondria | 31/7958 | 48/18723 | 1.66e-03 | 8.71e-03 | 31 |
GO:009719320 | Oral cavity | OSCC | intrinsic apoptotic signaling pathway | 202/7305 | 288/18723 | 4.64e-27 | 1.73e-24 | 202 |
GO:009719120 | Oral cavity | OSCC | extrinsic apoptotic signaling pathway | 142/7305 | 219/18723 | 7.34e-15 | 4.55e-13 | 142 |
GO:005134820 | Oral cavity | OSCC | negative regulation of transferase activity | 165/7305 | 268/18723 | 5.02e-14 | 2.74e-12 | 165 |
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 |
MLLT1 | SNV | Missense_Mutation | rs780725072 | c.691C>T | p.Arg231Trp | p.R231W | Q03111 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
MLLT1 | SNV | Missense_Mutation | novel | c.973T>C | p.Ser325Pro | p.S325P | Q03111 | protein_coding | tolerated(0.41) | benign(0) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MLLT1 | SNV | Missense_Mutation | rs780725072 | c.691C>T | p.Arg231Trp | p.R231W | Q03111 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MLLT1 | SNV | Missense_Mutation | novel | c.1074N>C | p.Glu358Asp | p.E358D | Q03111 | protein_coding | tolerated(1) | benign(0) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MLLT1 | SNV | Missense_Mutation | rs141047642 | c.914N>T | p.Ser305Leu | p.S305L | Q03111 | protein_coding | tolerated(0.13) | benign(0.146) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MLLT1 | SNV | Missense_Mutation | novel | c.692N>A | p.Arg231Gln | p.R231Q | Q03111 | protein_coding | deleterious(0.01) | probably_damaging(0.978) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MLLT1 | SNV | Missense_Mutation | novel | c.1574C>A | p.Thr525Asn | p.T525N | Q03111 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
MLLT1 | SNV | Missense_Mutation | novel | c.1112N>A | p.Ser371Tyr | p.S371Y | Q03111 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
MLLT1 | SNV | Missense_Mutation | novel | c.1177N>T | p.Pro393Ser | p.P393S | Q03111 | protein_coding | tolerated(0.21) | probably_damaging(0.994) | TCGA-AX-A2HJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MLLT1 | SNV | Missense_Mutation | rs778489015 | c.949C>T | p.Arg317Cys | p.R317C | Q03111 | protein_coding | tolerated(0.23) | possibly_damaging(0.893) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |