GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005105221 | Liver | HCC | regulation of DNA metabolic process | 198/7958 | 359/18723 | 7.62e-07 | 1.17e-05 | 198 |
GO:200102021 | Liver | HCC | regulation of response to DNA damage stimulus | 128/7958 | 219/18723 | 1.31e-06 | 1.90e-05 | 128 |
GO:007121421 | Liver | HCC | cellular response to abiotic stimulus | 183/7958 | 331/18723 | 1.59e-06 | 2.26e-05 | 183 |
GO:010400421 | Liver | HCC | cellular response to environmental stimulus | 183/7958 | 331/18723 | 1.59e-06 | 2.26e-05 | 183 |
GO:00062601 | Liver | HCC | DNA replication | 146/7958 | 260/18723 | 5.68e-06 | 7.02e-05 | 146 |
GO:00346441 | Liver | HCC | cellular response to UV | 56/7958 | 90/18723 | 1.25e-04 | 1.03e-03 | 56 |
GO:00714782 | Liver | HCC | cellular response to radiation | 104/7958 | 186/18723 | 1.48e-04 | 1.19e-03 | 104 |
GO:0009411 | Liver | HCC | response to UV | 85/7958 | 149/18723 | 2.34e-04 | 1.77e-03 | 85 |
GO:00718975 | Liver | HCC | DNA biosynthetic process | 99/7958 | 180/18723 | 4.66e-04 | 3.08e-03 | 99 |
GO:00062824 | Liver | HCC | regulation of DNA repair | 74/7958 | 130/18723 | 6.27e-04 | 3.89e-03 | 74 |
GO:00093146 | Liver | HCC | response to radiation | 223/7958 | 456/18723 | 3.08e-03 | 1.43e-02 | 223 |
GO:005105218 | Thyroid | PTC | regulation of DNA metabolic process | 171/5968 | 359/18723 | 2.52e-10 | 8.33e-09 | 171 |
GO:2001020112 | Thyroid | PTC | regulation of response to DNA damage stimulus | 113/5968 | 219/18723 | 9.37e-10 | 2.77e-08 | 113 |
GO:0071214111 | Thyroid | PTC | cellular response to abiotic stimulus | 158/5968 | 331/18723 | 9.90e-10 | 2.89e-08 | 158 |
GO:0104004111 | Thyroid | PTC | cellular response to environmental stimulus | 158/5968 | 331/18723 | 9.90e-10 | 2.89e-08 | 158 |
GO:007147819 | Thyroid | PTC | cellular response to radiation | 93/5968 | 186/18723 | 1.90e-07 | 3.51e-06 | 93 |
GO:0009314111 | Thyroid | PTC | response to radiation | 195/5968 | 456/18723 | 5.10e-07 | 8.27e-06 | 195 |
GO:00094117 | Thyroid | PTC | response to UV | 76/5968 | 149/18723 | 8.97e-07 | 1.36e-05 | 76 |
GO:00346447 | Thyroid | PTC | cellular response to UV | 49/5968 | 90/18723 | 7.58e-06 | 8.77e-05 | 49 |
GO:00062828 | Thyroid | PTC | regulation of DNA repair | 65/5968 | 130/18723 | 1.25e-05 | 1.36e-04 | 65 |
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 |
POLH | SNV | Missense_Mutation | | c.1126N>G | p.Lys376Glu | p.K376E | Q9Y253 | protein_coding | tolerated(0.14) | benign(0.023) | TCGA-D1-A177-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
POLH | SNV | Missense_Mutation | | c.1187N>T | p.Ser396Ile | p.S396I | Q9Y253 | protein_coding | deleterious(0.04) | probably_damaging(0.98) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
POLH | SNV | Missense_Mutation | | c.1841N>C | p.Leu614Pro | p.L614P | Q9Y253 | protein_coding | tolerated(0.19) | benign(0) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
POLH | SNV | Missense_Mutation | rs113074920 | c.241N>T | p.Arg81Cys | p.R81C | Q9Y253 | protein_coding | deleterious(0.01) | possibly_damaging(0.903) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
POLH | SNV | Missense_Mutation | novel | c.2011N>A | p.Pro671Thr | p.P671T | Q9Y253 | protein_coding | deleterious(0.02) | benign(0.054) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
POLH | SNV | Missense_Mutation | rs760976760 | c.1340N>G | p.Asp447Gly | p.D447G | Q9Y253 | protein_coding | tolerated(0.13) | benign(0.021) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
POLH | SNV | Missense_Mutation | novel | c.1835N>T | p.Ser612Phe | p.S612F | Q9Y253 | protein_coding | tolerated(0.2) | benign(0.074) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
POLH | SNV | Missense_Mutation | novel | c.145N>A | p.Ala49Thr | p.A49T | Q9Y253 | protein_coding | deleterious(0) | probably_damaging(0.955) | TCGA-EO-A3AS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
POLH | SNV | Missense_Mutation | novel | c.2048G>T | p.Arg683Ile | p.R683I | Q9Y253 | protein_coding | deleterious(0.02) | possibly_damaging(0.753) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
POLH | SNV | Missense_Mutation | | c.241N>A | p.Arg81Ser | p.R81S | Q9Y253 | protein_coding | tolerated(0.1) | possibly_damaging(0.556) | TCGA-QF-A5YS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
5429 | POLH | CLINICALLY ACTIONABLE, ENZYME, DNA REPAIR | | AG-538 | CHEMBL56393 | |
5429 | POLH | CLINICALLY ACTIONABLE, ENZYME, DNA REPAIR | | IDARUBICIN | IDARUBICIN | |
5429 | POLH | CLINICALLY ACTIONABLE, ENZYME, DNA REPAIR | | GNF-PF-3148 | CHEMBL81782 | |
5429 | POLH | CLINICALLY ACTIONABLE, ENZYME, DNA REPAIR | | ASTERRIC ACID | ASTERRIC ACID | |
5429 | POLH | CLINICALLY ACTIONABLE, ENZYME, DNA REPAIR | | NSC-107022 | CHEMBL1601846 | |
5429 | POLH | CLINICALLY ACTIONABLE, ENZYME, DNA REPAIR | | 2,3,4-TRIHYDROXYBENZOPHENONE | CHEMBL1527 | |
5429 | POLH | CLINICALLY ACTIONABLE, ENZYME, DNA REPAIR | | CCG-63802 | CHEMBL1476646 | |
5429 | POLH | CLINICALLY ACTIONABLE, ENZYME, DNA REPAIR | | GNF-PF-5510 | CHEMBL578741 | |
5429 | POLH | CLINICALLY ACTIONABLE, ENZYME, DNA REPAIR | | NSC-61836 | CHEMBL521171 | |
5429 | POLH | CLINICALLY ACTIONABLE, ENZYME, DNA REPAIR | | CEFMETAZOLE SODIUM | CEFMETAZOLE SODIUM | |