GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0030330112 | Thyroid | PTC | DNA damage response, signal transduction by p53 class mediator | 38/5968 | 72/18723 | 1.85e-04 | 1.40e-03 | 38 |
GO:200004515 | Thyroid | PTC | regulation of G1/S transition of mitotic cell cycle | 66/5968 | 142/18723 | 1.86e-04 | 1.41e-03 | 66 |
GO:19028067 | Thyroid | PTC | regulation of cell cycle G1/S phase transition | 76/5968 | 168/18723 | 1.87e-04 | 1.41e-03 | 76 |
GO:00083342 | Thyroid | PTC | histone mRNA metabolic process | 13/5968 | 17/18723 | 2.05e-04 | 1.52e-03 | 13 |
GO:005140914 | Thyroid | PTC | response to nitrosative stress | 9/5968 | 10/18723 | 2.41e-04 | 1.74e-03 | 9 |
GO:2000573111 | Thyroid | PTC | positive regulation of DNA biosynthetic process | 35/5968 | 66/18723 | 2.91e-04 | 2.06e-03 | 35 |
GO:00109486 | Thyroid | PTC | negative regulation of cell cycle process | 122/5968 | 294/18723 | 2.94e-04 | 2.08e-03 | 122 |
GO:20012515 | Thyroid | PTC | negative regulation of chromosome organization | 43/5968 | 86/18723 | 3.49e-04 | 2.40e-03 | 43 |
GO:19021176 | Thyroid | PTC | positive regulation of organelle assembly | 35/5968 | 67/18723 | 4.24e-04 | 2.83e-03 | 35 |
GO:19043534 | Thyroid | PTC | regulation of telomere capping | 17/5968 | 26/18723 | 4.57e-04 | 3.01e-03 | 17 |
GO:19019885 | Thyroid | PTC | negative regulation of cell cycle phase transition | 104/5968 | 249/18723 | 6.01e-04 | 3.82e-03 | 104 |
GO:00000866 | Thyroid | PTC | G2/M transition of mitotic cell cycle | 62/5968 | 137/18723 | 6.89e-04 | 4.32e-03 | 62 |
GO:00482855 | Thyroid | PTC | organelle fission | 188/5968 | 488/18723 | 9.64e-04 | 5.77e-03 | 188 |
GO:00070885 | Thyroid | PTC | regulation of mitotic nuclear division | 51/5968 | 110/18723 | 1.02e-03 | 6.07e-03 | 51 |
GO:00319295 | Thyroid | PTC | TOR signaling | 57/5968 | 126/18723 | 1.12e-03 | 6.56e-03 | 57 |
GO:00988135 | Thyroid | PTC | nuclear chromosome segregation | 114/5968 | 281/18723 | 1.21e-03 | 6.94e-03 | 114 |
GO:00070936 | Thyroid | PTC | mitotic cell cycle checkpoint | 58/5968 | 129/18723 | 1.22e-03 | 6.97e-03 | 58 |
GO:00063026 | Thyroid | PTC | double-strand break repair | 103/5968 | 251/18723 | 1.30e-03 | 7.40e-03 | 103 |
GO:00448396 | Thyroid | PTC | cell cycle G2/M phase transition | 65/5968 | 148/18723 | 1.36e-03 | 7.66e-03 | 65 |
GO:00519835 | Thyroid | PTC | regulation of chromosome segregation | 43/5968 | 91/18723 | 1.53e-03 | 8.55e-03 | 43 |
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 | |