GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0007091 | Liver | HCC | metaphase/anaphase transition of mitotic cell cycle | 42/7958 | 62/18723 | 5.18e-05 | 4.93e-04 | 42 |
GO:003221011 | Liver | HCC | regulation of telomere maintenance via telomerase | 37/7958 | 53/18723 | 5.28e-05 | 5.01e-04 | 37 |
GO:005105411 | Liver | HCC | positive regulation of DNA metabolic process | 113/7958 | 201/18723 | 5.76e-05 | 5.33e-04 | 113 |
GO:0007093 | Liver | HCC | mitotic cell cycle checkpoint | 77/7958 | 129/18723 | 6.00e-05 | 5.50e-04 | 77 |
GO:001083322 | Liver | HCC | telomere maintenance via telomere lengthening | 52/7958 | 81/18723 | 6.59e-05 | 6.00e-04 | 52 |
GO:00000822 | Liver | HCC | G1/S transition of mitotic cell cycle | 119/7958 | 214/18723 | 7.11e-05 | 6.39e-04 | 119 |
GO:007147921 | Liver | HCC | cellular response to ionizing radiation | 47/7958 | 72/18723 | 7.95e-05 | 7.07e-04 | 47 |
GO:1905818 | Liver | HCC | regulation of chromosome separation | 47/7958 | 72/18723 | 7.95e-05 | 7.07e-04 | 47 |
GO:0051983 | Liver | HCC | regulation of chromosome segregation | 57/7958 | 91/18723 | 8.35e-05 | 7.36e-04 | 57 |
GO:000926611 | Liver | HCC | response to temperature stimulus | 101/7958 | 178/18723 | 8.55e-05 | 7.48e-04 | 101 |
GO:0010965 | Liver | HCC | regulation of mitotic sister chromatid separation | 43/7958 | 65/18723 | 9.99e-05 | 8.60e-04 | 43 |
GO:200102211 | Liver | HCC | positive regulation of response to DNA damage stimulus | 64/7958 | 105/18723 | 1.03e-04 | 8.88e-04 | 64 |
GO:0051306 | Liver | HCC | mitotic sister chromatid separation | 44/7958 | 67/18723 | 1.08e-04 | 9.22e-04 | 44 |
GO:1900034 | Liver | HCC | regulation of cellular response to heat | 15/7958 | 17/18723 | 1.31e-04 | 1.07e-03 | 15 |
GO:0030071 | Liver | HCC | regulation of mitotic metaphase/anaphase transition | 40/7958 | 60/18723 | 1.34e-04 | 1.10e-03 | 40 |
GO:001820911 | Liver | HCC | peptidyl-serine modification | 177/7958 | 338/18723 | 1.45e-04 | 1.17e-03 | 177 |
GO:00714782 | Liver | HCC | cellular response to radiation | 104/7958 | 186/18723 | 1.48e-04 | 1.19e-03 | 104 |
GO:0032006 | Liver | HCC | regulation of TOR signaling | 63/7958 | 104/18723 | 1.50e-04 | 1.20e-03 | 63 |
GO:200027812 | Liver | HCC | regulation of DNA biosynthetic process | 64/7958 | 106/18723 | 1.53e-04 | 1.23e-03 | 64 |
GO:003033021 | Liver | HCC | DNA damage response, signal transduction by p53 class mediator | 46/7958 | 72/18723 | 2.02e-04 | 1.56e-03 | 46 |
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 |
ATM | SNV | Missense_Mutation | | c.4759N>A | p.Pro1587Thr | p.P1587T | Q13315 | protein_coding | tolerated(0.39) | benign(0.009) | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
ATM | SNV | Missense_Mutation | rs876659942 | c.8158N>A | p.Asp2720Asn | p.D2720N | Q13315 | protein_coding | deleterious(0.03) | possibly_damaging(0.696) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
ATM | SNV | Missense_Mutation | | c.1134N>G | p.Ser378Arg | p.S378R | Q13315 | protein_coding | tolerated(0.61) | benign(0.005) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ATM | SNV | Missense_Mutation | | c.2212G>A | p.Glu738Lys | p.E738K | Q13315 | protein_coding | tolerated(0.06) | benign(0.111) | TCGA-A8-A076-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
ATM | SNV | Missense_Mutation | novel | c.8440G>A | p.Glu2814Lys | p.E2814K | Q13315 | protein_coding | deleterious(0.02) | benign(0.018) | TCGA-AC-A3W6-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
ATM | SNV | Missense_Mutation | | c.7310N>G | p.Tyr2437Cys | p.Y2437C | Q13315 | protein_coding | deleterious(0) | probably_damaging(0.917) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ATM | SNV | Missense_Mutation | novel | c.4211N>G | p.Ile1404Ser | p.I1404S | Q13315 | protein_coding | deleterious(0.03) | benign(0.433) | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ATM | SNV | Missense_Mutation | rs781449586 | c.6881A>G | p.Glu2294Gly | p.E2294G | Q13315 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-B6-A0IA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATM | SNV | Missense_Mutation | rs587782310 | c.7328N>A | p.Arg2443Gln | p.R2443Q | Q13315 | protein_coding | deleterious(0.03) | benign(0.131) | TCGA-B6-A0RL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ATM | SNV | Missense_Mutation | | c.5993N>A | p.Gly1998Glu | p.G1998E | Q13315 | protein_coding | tolerated(0.05) | benign(0.152) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
472 | ATM | CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, ENZYME, DRUGGABLE GENOME, PHOSPHATIDYLINOSITOL 3 KINASE, TUMOR SUPPRESSOR, DRUG RESISTANCE | | metformin | METFORMIN | 28834135 |
472 | ATM | CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, ENZYME, DRUGGABLE GENOME, PHOSPHATIDYLINOSITOL 3 KINASE, TUMOR SUPPRESSOR, DRUG RESISTANCE | | OLAPARIB | OLAPARIB | 20739657,26510020,32343890,28363999,20124459,24841718 |
472 | ATM | CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, ENZYME, DRUGGABLE GENOME, PHOSPHATIDYLINOSITOL 3 KINASE, TUMOR SUPPRESSOR, DRUG RESISTANCE | | PHLORETIN | PHLORETIN | |
472 | ATM | CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, ENZYME, DRUGGABLE GENOME, PHOSPHATIDYLINOSITOL 3 KINASE, TUMOR SUPPRESSOR, DRUG RESISTANCE | | Fludarabine | FLUDARABINE | 20739657 |
472 | ATM | CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, ENZYME, DRUGGABLE GENOME, PHOSPHATIDYLINOSITOL 3 KINASE, TUMOR SUPPRESSOR, DRUG RESISTANCE | | DOXORUBICIN | DOXORUBICIN | 23585524 |
472 | ATM | CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, ENZYME, DRUGGABLE GENOME, PHOSPHATIDYLINOSITOL 3 KINASE, TUMOR SUPPRESSOR, DRUG RESISTANCE | | Bendamustine | BENDAMUSTINE | 20739657 |
472 | ATM | CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, ENZYME, DRUGGABLE GENOME, PHOSPHATIDYLINOSITOL 3 KINASE, TUMOR SUPPRESSOR, DRUG RESISTANCE | | NAFTIFINE HYDROCHLORIDE | NAFTIFINE HYDROCHLORIDE | |
472 | ATM | CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, ENZYME, DRUGGABLE GENOME, PHOSPHATIDYLINOSITOL 3 KINASE, TUMOR SUPPRESSOR, DRUG RESISTANCE | | TCMDC-125528 | CHEMBL375673 | |
472 | ATM | CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, ENZYME, DRUGGABLE GENOME, PHOSPHATIDYLINOSITOL 3 KINASE, TUMOR SUPPRESSOR, DRUG RESISTANCE | | AZD1390 | | |
472 | ATM | CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, ENZYME, DRUGGABLE GENOME, PHOSPHATIDYLINOSITOL 3 KINASE, TUMOR SUPPRESSOR, DRUG RESISTANCE | | doxorubicin | DOXORUBICIN | |