GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00007237 | Liver | Cirrhotic | telomere maintenance | 58/4634 | 131/18723 | 7.93e-07 | 1.66e-05 | 58 |
GO:00322067 | Liver | Cirrhotic | positive regulation of telomere maintenance | 29/4634 | 52/18723 | 1.69e-06 | 3.22e-05 | 29 |
GO:00322046 | Liver | Cirrhotic | regulation of telomere maintenance | 39/4634 | 80/18723 | 2.87e-06 | 5.13e-05 | 39 |
GO:00070046 | Liver | Cirrhotic | telomere maintenance via telomerase | 35/4634 | 69/18723 | 2.90e-06 | 5.16e-05 | 35 |
GO:00346057 | Liver | Cirrhotic | cellular response to heat | 35/4634 | 69/18723 | 2.90e-06 | 5.16e-05 | 35 |
GO:00106397 | Liver | Cirrhotic | negative regulation of organelle organization | 124/4634 | 348/18723 | 3.20e-06 | 5.60e-05 | 124 |
GO:00094087 | Liver | Cirrhotic | response to heat | 49/4634 | 110/18723 | 4.47e-06 | 7.42e-05 | 49 |
GO:003304411 | Liver | Cirrhotic | regulation of chromosome organization | 74/4634 | 187/18723 | 5.00e-06 | 8.18e-05 | 74 |
GO:00073463 | Liver | Cirrhotic | regulation of mitotic cell cycle | 154/4634 | 457/18723 | 8.73e-06 | 1.29e-04 | 154 |
GO:001083312 | Liver | Cirrhotic | telomere maintenance via telomere lengthening | 38/4634 | 81/18723 | 1.20e-05 | 1.69e-04 | 38 |
GO:004239811 | Liver | Cirrhotic | cellular modified amino acid biosynthetic process | 25/4634 | 46/18723 | 1.61e-05 | 2.19e-04 | 25 |
GO:001657011 | Liver | Cirrhotic | histone modification | 154/4634 | 463/18723 | 1.92e-05 | 2.57e-04 | 154 |
GO:007121411 | Liver | Cirrhotic | cellular response to abiotic stimulus | 115/4634 | 331/18723 | 2.62e-05 | 3.38e-04 | 115 |
GO:010400411 | Liver | Cirrhotic | cellular response to environmental stimulus | 115/4634 | 331/18723 | 2.62e-05 | 3.38e-04 | 115 |
GO:007147911 | Liver | Cirrhotic | cellular response to ionizing radiation | 34/4634 | 72/18723 | 2.86e-05 | 3.64e-04 | 34 |
GO:00062785 | Liver | Cirrhotic | RNA-dependent DNA biosynthetic process | 35/4634 | 75/18723 | 3.01e-05 | 3.78e-04 | 35 |
GO:000756812 | Liver | Cirrhotic | aging | 117/4634 | 339/18723 | 3.13e-05 | 3.91e-04 | 117 |
GO:19043587 | Liver | Cirrhotic | positive regulation of telomere maintenance via telomere lengthening | 21/4634 | 37/18723 | 3.20e-05 | 3.97e-04 | 21 |
GO:00714801 | Liver | Cirrhotic | cellular response to gamma radiation | 18/4634 | 31/18723 | 7.83e-05 | 8.61e-04 | 18 |
GO:00086306 | Liver | Cirrhotic | intrinsic apoptotic signaling pathway in response to DNA damage | 42/4634 | 99/18723 | 8.44e-05 | 9.17e-04 | 42 |
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 | |