GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0031346 | Colorectum | AD | positive regulation of cell projection organization | 104/3918 | 353/18723 | 8.26e-05 | 1.30e-03 | 104 |
GO:0120034 | Colorectum | AD | positive regulation of plasma membrane bounded cell projection assembly | 33/3918 | 105/18723 | 7.49e-03 | 4.55e-02 | 33 |
GO:0120032 | Colorectum | AD | regulation of plasma membrane bounded cell projection assembly | 53/3918 | 186/18723 | 8.51e-03 | 4.97e-02 | 53 |
GO:00313462 | Colorectum | MSS | positive regulation of cell projection organization | 96/3467 | 353/18723 | 3.44e-05 | 6.70e-04 | 96 |
GO:00423981 | Colorectum | MSS | cellular modified amino acid biosynthetic process | 20/3467 | 46/18723 | 8.26e-05 | 1.35e-03 | 20 |
GO:00065751 | Colorectum | MSS | cellular modified amino acid metabolic process | 55/3467 | 188/18723 | 2.16e-04 | 3.01e-03 | 55 |
GO:01200322 | Colorectum | MSS | regulation of plasma membrane bounded cell projection assembly | 51/3467 | 186/18723 | 1.78e-03 | 1.58e-02 | 51 |
GO:00604911 | Colorectum | MSS | regulation of cell projection assembly | 51/3467 | 188/18723 | 2.28e-03 | 1.87e-02 | 51 |
GO:00030121 | Colorectum | MSS | muscle system process | 105/3467 | 452/18723 | 6.39e-03 | 4.26e-02 | 105 |
GO:0046394 | Colorectum | MSS | carboxylic acid biosynthetic process | 76/3467 | 314/18723 | 6.71e-03 | 4.38e-02 | 76 |
GO:01200341 | Colorectum | MSS | positive regulation of plasma membrane bounded cell projection assembly | 30/3467 | 105/18723 | 7.74e-03 | 4.84e-02 | 30 |
GO:0016053 | Colorectum | MSS | organic acid biosynthetic process | 76/3467 | 316/18723 | 7.88e-03 | 4.84e-02 | 76 |
GO:00423982 | Colorectum | MSI-H | cellular modified amino acid biosynthetic process | 10/1319 | 46/18723 | 1.14e-03 | 1.90e-02 | 10 |
GO:00065752 | Colorectum | MSI-H | cellular modified amino acid metabolic process | 25/1319 | 188/18723 | 1.61e-03 | 2.39e-02 | 25 |
GO:00463941 | Colorectum | MSI-H | carboxylic acid biosynthetic process | 36/1319 | 314/18723 | 2.68e-03 | 3.48e-02 | 36 |
GO:00160531 | Colorectum | MSI-H | organic acid biosynthetic process | 36/1319 | 316/18723 | 2.98e-03 | 3.78e-02 | 36 |
GO:0022613111 | Esophagus | ESCC | ribonucleoprotein complex biogenesis | 365/8552 | 463/18723 | 1.74e-49 | 1.11e-45 | 365 |
GO:0097193111 | Esophagus | ESCC | intrinsic apoptotic signaling pathway | 222/8552 | 288/18723 | 5.87e-28 | 2.02e-25 | 222 |
GO:0006403110 | Esophagus | ESCC | RNA localization | 166/8552 | 201/18723 | 1.95e-27 | 6.18e-25 | 166 |
GO:001657015 | Esophagus | ESCC | histone modification | 323/8552 | 463/18723 | 2.61e-26 | 7.88e-24 | 323 |
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 | |