GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000218127 | Esophagus | HGIN | cytoplasmic translation | 108/2587 | 148/18723 | 1.70e-60 | 1.02e-56 | 108 |
GO:000641727 | Esophagus | HGIN | regulation of translation | 139/2587 | 468/18723 | 1.46e-19 | 7.98e-17 | 139 |
GO:009719327 | Esophagus | HGIN | intrinsic apoptotic signaling pathway | 90/2587 | 288/18723 | 1.50e-14 | 2.80e-12 | 90 |
GO:200124227 | Esophagus | HGIN | regulation of intrinsic apoptotic signaling pathway | 58/2587 | 164/18723 | 2.57e-12 | 3.58e-10 | 58 |
GO:000640320 | Esophagus | HGIN | RNA localization | 66/2587 | 201/18723 | 4.06e-12 | 5.41e-10 | 66 |
GO:200123327 | Esophagus | HGIN | regulation of apoptotic signaling pathway | 97/2587 | 356/18723 | 1.36e-11 | 1.57e-09 | 97 |
GO:007233127 | Esophagus | HGIN | signal transduction by p53 class mediator | 49/2587 | 163/18723 | 5.71e-08 | 3.06e-06 | 49 |
GO:200123427 | Esophagus | HGIN | negative regulation of apoptotic signaling pathway | 59/2587 | 224/18723 | 4.68e-07 | 2.07e-05 | 59 |
GO:200124325 | Esophagus | HGIN | negative regulation of intrinsic apoptotic signaling pathway | 33/2587 | 98/18723 | 4.73e-07 | 2.07e-05 | 33 |
GO:00198277 | Esophagus | HGIN | stem cell population maintenance | 39/2587 | 131/18723 | 1.63e-06 | 6.14e-05 | 39 |
GO:00987278 | Esophagus | HGIN | maintenance of cell number | 39/2587 | 134/18723 | 3.02e-06 | 1.03e-04 | 39 |
GO:007233220 | Esophagus | HGIN | intrinsic apoptotic signaling pathway by p53 class mediator | 26/2587 | 76/18723 | 5.43e-06 | 1.73e-04 | 26 |
GO:190179827 | Esophagus | HGIN | positive regulation of signal transduction by p53 class mediator | 13/2587 | 25/18723 | 6.62e-06 | 2.07e-04 | 13 |
GO:003009927 | Esophagus | HGIN | myeloid cell differentiation | 83/2587 | 381/18723 | 1.26e-05 | 3.52e-04 | 83 |
GO:003033020 | Esophagus | HGIN | DNA damage response, signal transduction by p53 class mediator | 24/2587 | 72/18723 | 2.03e-05 | 5.43e-04 | 24 |
GO:200102019 | Esophagus | HGIN | regulation of response to DNA damage stimulus | 52/2587 | 219/18723 | 5.00e-05 | 1.19e-03 | 52 |
GO:000863020 | Esophagus | HGIN | intrinsic apoptotic signaling pathway in response to DNA damage | 28/2587 | 99/18723 | 1.24e-04 | 2.54e-03 | 28 |
GO:190179627 | Esophagus | HGIN | regulation of signal transduction by p53 class mediator | 26/2587 | 93/18723 | 2.60e-04 | 4.55e-03 | 26 |
GO:004277120 | Esophagus | HGIN | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 15/2587 | 43/18723 | 4.06e-04 | 6.15e-03 | 15 |
GO:00427708 | Esophagus | HGIN | signal transduction in response to DNA damage | 39/2587 | 172/18723 | 1.07e-03 | 1.32e-02 | 39 |
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 |
ZNF3 | SNV | Missense_Mutation | | c.116N>G | p.Ala39Gly | p.A39G | P17036 | protein_coding | tolerated(0.06) | benign(0.116) | TCGA-B6-A0IE-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
ZNF3 | insertion | In_Frame_Ins | novel | c.1181_1182insTGCTGTTTTGTTTCATGATTTCGTTAATTATGGAAATTT | p.Asn394_Pro395insAlaValLeuPheHisAspPheValAsnTyrGlyAsnPhe | p.N394_P395insAVLFHDFVNYGNF | P17036 | protein_coding | | | TCGA-A8-A07P-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | SD |
ZNF3 | insertion | Frame_Shift_Ins | novel | c.275_276insAACTTCAGACC | p.Glu93ThrfsTer48 | p.E93Tfs*48 | P17036 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
ZNF3 | insertion | In_Frame_Ins | novel | c.273_274insGAATGTAGCAAGAGCTTTAAT | p.Asp91_Arg92insGluCysSerLysSerPheAsn | p.D91_R92insECSKSFN | P17036 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
ZNF3 | SNV | Missense_Mutation | | c.481G>A | p.Glu161Lys | p.E161K | P17036 | protein_coding | tolerated(0.62) | benign(0.13) | TCGA-EK-A2IP-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ZNF3 | SNV | Missense_Mutation | rs199648870 | c.632N>A | p.Arg211Gln | p.R211Q | P17036 | protein_coding | tolerated(0.92) | benign(0.109) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ZNF3 | SNV | Missense_Mutation | novel | c.496C>T | p.Pro166Ser | p.P166S | P17036 | protein_coding | tolerated(0.2) | benign(0.081) | TCGA-AA-3877-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ZNF3 | SNV | Missense_Mutation | | c.1247G>T | p.Arg416Ile | p.R416I | P17036 | protein_coding | deleterious(0) | benign(0.31) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
ZNF3 | SNV | Missense_Mutation | novel | c.180C>A | p.Phe60Leu | p.F60L | P17036 | protein_coding | tolerated(0.43) | benign(0.019) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
ZNF3 | SNV | Missense_Mutation | novel | c.1237C>T | p.Arg413Cys | p.R413C | P17036 | protein_coding | deleterious(0) | probably_damaging(0.927) | TCGA-F4-6570-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |