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:2001233111 | Esophagus | ESCC | regulation of apoptotic signaling pathway | 256/8552 | 356/18723 | 4.11e-24 | 1.04e-21 | 256 |
GO:0006979111 | Esophagus | ESCC | response to oxidative stress | 303/8552 | 446/18723 | 7.15e-22 | 1.30e-19 | 303 |
GO:2001242111 | Esophagus | ESCC | regulation of intrinsic apoptotic signaling pathway | 128/8552 | 164/18723 | 1.75e-17 | 1.50e-15 | 128 |
GO:2001234111 | Esophagus | ESCC | negative regulation of apoptotic signaling pathway | 161/8552 | 224/18723 | 1.24e-15 | 8.09e-14 | 161 |
GO:00062604 | Esophagus | ESCC | DNA replication | 181/8552 | 260/18723 | 3.55e-15 | 2.05e-13 | 181 |
GO:0072331111 | Esophagus | ESCC | signal transduction by p53 class mediator | 121/8552 | 163/18723 | 9.61e-14 | 4.69e-12 | 121 |
GO:2001243111 | Esophagus | ESCC | negative regulation of intrinsic apoptotic signaling pathway | 78/8552 | 98/18723 | 5.50e-12 | 2.10e-10 | 78 |
GO:1901796111 | Esophagus | ESCC | regulation of signal transduction by p53 class mediator | 70/8552 | 93/18723 | 5.69e-09 | 1.18e-07 | 70 |
GO:0072332111 | Esophagus | ESCC | intrinsic apoptotic signaling pathway by p53 class mediator | 59/8552 | 76/18723 | 1.22e-08 | 2.42e-07 | 59 |
GO:0006753110 | Esophagus | ESCC | nucleoside phosphate metabolic process | 288/8552 | 497/18723 | 1.80e-08 | 3.50e-07 | 288 |
GO:0009117111 | Esophagus | ESCC | nucleotide metabolic process | 282/8552 | 489/18723 | 4.70e-08 | 8.50e-07 | 282 |
GO:0009141111 | Esophagus | ESCC | nucleoside triphosphate metabolic process | 78/8552 | 112/18723 | 2.36e-07 | 3.59e-06 | 78 |
GO:00062612 | Esophagus | ESCC | DNA-dependent DNA replication | 100/8552 | 151/18723 | 2.61e-07 | 3.94e-06 | 100 |
GO:000916516 | Esophagus | ESCC | nucleotide biosynthetic process | 150/8552 | 254/18723 | 1.12e-05 | 1.06e-04 | 150 |
GO:190129316 | Esophagus | ESCC | nucleoside phosphate biosynthetic process | 151/8552 | 256/18723 | 1.15e-05 | 1.08e-04 | 151 |
GO:1902253110 | Esophagus | ESCC | regulation of intrinsic apoptotic signaling pathway by p53 class mediator | 23/8552 | 29/18723 | 2.25e-04 | 1.40e-03 | 23 |
GO:000920012 | Esophagus | ESCC | deoxyribonucleoside triphosphate metabolic process | 15/8552 | 17/18723 | 3.48e-04 | 2.03e-03 | 15 |
GO:000926212 | Esophagus | ESCC | deoxyribonucleotide metabolic process | 31/8552 | 44/18723 | 7.70e-04 | 3.99e-03 | 31 |
GO:00092633 | Esophagus | ESCC | deoxyribonucleotide biosynthetic process | 13/8552 | 15/18723 | 1.31e-03 | 6.26e-03 | 13 |
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 |
RRM2B | SNV | Missense_Mutation | | c.969N>A | p.Phe323Leu | p.F323L | Q7LG56 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.968) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
RRM2B | SNV | Missense_Mutation | rs515726186 | c.328N>T | p.Arg110Cys | p.R110C | Q7LG56 | protein_coding | deleterious_low_confidence(0.02) | possibly_damaging(0.597) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
RRM2B | SNV | Missense_Mutation | | c.947C>A | p.Ser316Tyr | p.S316Y | Q7LG56 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.938) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RRM2B | SNV | Missense_Mutation | | c.4G>T | p.Gly2Cys | p.G2C | Q7LG56 | protein_coding | deleterious_low_confidence(0) | benign(0.397) | TCGA-AX-A2HG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RRM2B | SNV | Missense_Mutation | novel | c.264N>A | p.Phe88Leu | p.F88L | Q7LG56 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.979) | TCGA-BK-A6W3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RRM2B | SNV | Missense_Mutation | | c.450N>T | p.Lys150Asn | p.K150N | Q7LG56 | protein_coding | tolerated_low_confidence(0.12) | benign(0.044) | TCGA-BS-A0UJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RRM2B | SNV | Missense_Mutation | | c.140T>C | p.Ile47Thr | p.I47T | Q7LG56 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.995) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RRM2B | SNV | Missense_Mutation | | c.773N>T | p.Ala258Val | p.A258V | Q7LG56 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.992) | TCGA-D1-A17H-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RRM2B | SNV | Missense_Mutation | | c.116N>A | p.Ser39Tyr | p.S39Y | Q7LG56 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.573) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RRM2B | SNV | Missense_Mutation | novel | c.230A>G | p.His77Arg | p.H77R | Q7LG56 | protein_coding | deleterious_low_confidence(0) | benign(0.015) | TCGA-DF-A2KN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
50484 | RRM2B | ENZYME, DRUGGABLE GENOME, DNA REPAIR | inhibitor | CHEMBL1200983 | GALLIUM NITRATE | |
50484 | RRM2B | ENZYME, DRUGGABLE GENOME, DNA REPAIR | inhibitor | CHEMBL1096882 | FLUDARABINE PHOSPHATE | |
50484 | RRM2B | ENZYME, DRUGGABLE GENOME, DNA REPAIR | | MOTEXAFIN GADOLINIUM | | |
50484 | RRM2B | ENZYME, DRUGGABLE GENOME, DNA REPAIR | | GEMCITABINE | GEMCITABINE | |
50484 | RRM2B | ENZYME, DRUGGABLE GENOME, DNA REPAIR | inhibitor | CHEMBL1750 | CLOFARABINE | |
50484 | RRM2B | ENZYME, DRUGGABLE GENOME, DNA REPAIR | inhibitor | CHEMBL467 | HYDROXYUREA | |
50484 | RRM2B | ENZYME, DRUGGABLE GENOME, DNA REPAIR | | cladribine | CLADRIBINE | 24024897 |
50484 | RRM2B | ENZYME, DRUGGABLE GENOME, DNA REPAIR | inhibitor | CHEMBL1637 | GEMCITABINE HYDROCHLORIDE | |
50484 | RRM2B | ENZYME, DRUGGABLE GENOME, DNA REPAIR | | LOR-2040 | | |
50484 | RRM2B | ENZYME, DRUGGABLE GENOME, DNA REPAIR | inhibitor | CHEMBL2105467 | TEZACITABINE | |