GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0097193111 | Esophagus | ESCC | intrinsic apoptotic signaling pathway | 222/8552 | 288/18723 | 5.87e-28 | 2.02e-25 | 222 |
GO:014001414 | Esophagus | ESCC | mitotic nuclear division | 218/8552 | 287/18723 | 6.17e-26 | 1.78e-23 | 218 |
GO:0042176111 | Esophagus | ESCC | regulation of protein catabolic process | 280/8552 | 391/18723 | 8.65e-26 | 2.39e-23 | 280 |
GO:0031647111 | Esophagus | ESCC | regulation of protein stability | 223/8552 | 298/18723 | 5.76e-25 | 1.52e-22 | 223 |
GO:004477216 | Esophagus | ESCC | mitotic cell cycle phase transition | 281/8552 | 424/18723 | 4.63e-18 | 4.45e-16 | 281 |
GO:190285015 | Esophagus | ESCC | microtubule cytoskeleton organization involved in mitosis | 116/8552 | 147/18723 | 1.25e-16 | 9.91e-15 | 116 |
GO:000734615 | Esophagus | ESCC | regulation of mitotic cell cycle | 293/8552 | 457/18723 | 8.00e-16 | 5.64e-14 | 293 |
GO:000705214 | Esophagus | ESCC | mitotic spindle organization | 97/8552 | 120/18723 | 2.17e-15 | 1.33e-13 | 97 |
GO:0050821111 | Esophagus | ESCC | protein stabilization | 140/8552 | 191/18723 | 6.50e-15 | 3.61e-13 | 140 |
GO:000705114 | Esophagus | ESCC | spindle organization | 134/8552 | 184/18723 | 5.70e-14 | 2.87e-12 | 134 |
GO:0072331111 | Esophagus | ESCC | signal transduction by p53 class mediator | 121/8552 | 163/18723 | 9.61e-14 | 4.69e-12 | 121 |
GO:00482853 | Esophagus | ESCC | organelle fission | 301/8552 | 488/18723 | 4.64e-13 | 2.12e-11 | 301 |
GO:001021217 | Esophagus | ESCC | response to ionizing radiation | 110/8552 | 148/18723 | 1.11e-12 | 4.78e-11 | 110 |
GO:00002802 | Esophagus | ESCC | nuclear division | 270/8552 | 439/18723 | 1.17e-11 | 4.24e-10 | 270 |
GO:0008630110 | Esophagus | ESCC | intrinsic apoptotic signaling pathway in response to DNA damage | 78/8552 | 99/18723 | 1.43e-11 | 5.08e-10 | 78 |
GO:190198713 | Esophagus | ESCC | regulation of cell cycle phase transition | 242/8552 | 390/18723 | 3.86e-11 | 1.26e-09 | 242 |
GO:000931419 | Esophagus | ESCC | response to radiation | 277/8552 | 456/18723 | 4.42e-11 | 1.43e-09 | 277 |
GO:190199013 | Esophagus | ESCC | regulation of mitotic cell cycle phase transition | 191/8552 | 299/18723 | 1.35e-10 | 3.94e-09 | 191 |
GO:00457865 | Esophagus | ESCC | negative regulation of cell cycle | 236/8552 | 385/18723 | 3.62e-10 | 9.93e-09 | 236 |
GO:00000754 | Esophagus | ESCC | cell cycle checkpoint | 117/8552 | 169/18723 | 4.47e-10 | 1.17e-08 | 117 |
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 |
CHEK2 | SNV | Missense_Mutation | | c.1051N>C | p.Glu351Gln | p.E351Q | O96017 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
CHEK2 | SNV | Missense_Mutation | rs886041172 | c.1315N>G | p.Leu439Val | p.L439V | O96017 | protein_coding | deleterious(0.01) | benign(0.073) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CHEK2 | SNV | Missense_Mutation | | c.956T>A | p.Ile319Asn | p.I319N | O96017 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AC-A8OP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CHEK2 | SNV | Missense_Mutation | rs587781563 | c.738T>G | p.Asp246Glu | p.D246E | O96017 | protein_coding | tolerated(0.06) | benign(0.395) | TCGA-BH-A0AV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
CHEK2 | SNV | Missense_Mutation | novel | c.229N>C | p.Asp77His | p.D77H | O96017 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.999) | TCGA-OL-A66K-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CHEK2 | SNV | Missense_Mutation | | c.1045N>T | p.Gly349Trp | p.G349W | O96017 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EA-A4BA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
CHEK2 | SNV | Missense_Mutation | novel | c.1248N>C | p.Lys416Asn | p.K416N | O96017 | protein_coding | deleterious(0) | possibly_damaging(0.555) | TCGA-PN-A8MA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
CHEK2 | SNV | Missense_Mutation | novel | c.158N>T | p.Ser53Phe | p.S53F | O96017 | protein_coding | tolerated_low_confidence(0.06) | probably_damaging(0.994) | TCGA-VS-A8EL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CHEK2 | SNV | Missense_Mutation | novel | c.1379T>A | p.Leu460His | p.L460H | O96017 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-VS-A8Q9-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
CHEK2 | SNV | Missense_Mutation | | c.1204N>A | p.Glu402Lys | p.E402K | O96017 | protein_coding | tolerated(0.41) | benign(0.005) | TCGA-AA-3815-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
11200 | CHEK2 | ENZYME, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME | inhibitor | 336446935 | PREXASERTIB | |
11200 | CHEK2 | ENZYME, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME | | KENPAULLONE | KENPAULLONE | |
11200 | CHEK2 | ENZYME, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME | inhibitor | 249565724 | | |
11200 | CHEK2 | ENZYME, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME | | WITHAFERIN A | WITHAFERIN A | 24079846 |
11200 | CHEK2 | ENZYME, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME | | XL844 | | |
11200 | CHEK2 | ENZYME, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME | inhibitor | 178102613 | ISOGRANULATIMIDE | |
11200 | CHEK2 | ENZYME, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME | inhibitor | 249565819 | | |
11200 | CHEK2 | ENZYME, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME | | MLN-8054 | MLN-8054 | |
11200 | CHEK2 | ENZYME, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME | | RG-1530 | RG-1530 | |
11200 | CHEK2 | ENZYME, CLINICALLY ACTIONABLE, SERINE THREONINE KINASE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME | | CEDIRANIB | CEDIRANIB | |