GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:2001020112 | Thyroid | PTC | regulation of response to DNA damage stimulus | 113/5968 | 219/18723 | 9.37e-10 | 2.77e-08 | 113 |
GO:1901796113 | Thyroid | PTC | regulation of signal transduction by p53 class mediator | 58/5968 | 93/18723 | 1.38e-09 | 3.95e-08 | 58 |
GO:2001243113 | Thyroid | PTC | negative regulation of intrinsic apoptotic signaling pathway | 60/5968 | 98/18723 | 2.05e-09 | 5.77e-08 | 60 |
GO:00327846 | Thyroid | PTC | regulation of DNA-templated transcription, elongation | 38/5968 | 53/18723 | 3.07e-09 | 8.43e-08 | 38 |
GO:0072332113 | Thyroid | PTC | intrinsic apoptotic signaling pathway by p53 class mediator | 48/5968 | 76/18723 | 1.99e-08 | 4.61e-07 | 48 |
GO:0042771112 | Thyroid | PTC | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 30/5968 | 43/18723 | 3.79e-07 | 6.32e-06 | 30 |
GO:002191514 | Thyroid | PTC | neural tube development | 76/5968 | 152/18723 | 2.40e-06 | 3.17e-05 | 76 |
GO:0008630112 | Thyroid | PTC | intrinsic apoptotic signaling pathway in response to DNA damage | 54/5968 | 99/18723 | 2.46e-06 | 3.22e-05 | 54 |
GO:0030099113 | Thyroid | PTC | myeloid cell differentiation | 160/5968 | 381/18723 | 1.75e-05 | 1.82e-04 | 160 |
GO:004277010 | Thyroid | PTC | signal transduction in response to DNA damage | 81/5968 | 172/18723 | 2.07e-05 | 2.08e-04 | 81 |
GO:20010216 | Thyroid | PTC | negative regulation of response to DNA damage stimulus | 44/5968 | 81/18723 | 2.34e-05 | 2.33e-04 | 44 |
GO:004544418 | Thyroid | PTC | fat cell differentiation | 102/5968 | 229/18723 | 3.66e-05 | 3.40e-04 | 102 |
GO:1901798113 | Thyroid | PTC | positive regulation of signal transduction by p53 class mediator | 18/5968 | 25/18723 | 4.48e-05 | 4.05e-04 | 18 |
GO:1902253112 | Thyroid | PTC | regulation of intrinsic apoptotic signaling pathway by p53 class mediator | 20/5968 | 29/18723 | 4.54e-05 | 4.09e-04 | 20 |
GO:20010229 | Thyroid | PTC | positive regulation of response to DNA damage stimulus | 53/5968 | 105/18723 | 5.51e-05 | 4.89e-04 | 53 |
GO:00082985 | Thyroid | PTC | intracellular mRNA localization | 11/5968 | 13/18723 | 1.34e-04 | 1.05e-03 | 11 |
GO:009872710 | Thyroid | PTC | maintenance of cell number | 63/5968 | 134/18723 | 1.73e-04 | 1.32e-03 | 63 |
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:00603486 | Thyroid | PTC | bone development | 90/5968 | 205/18723 | 1.89e-04 | 1.42e-03 | 90 |
GO:190222918 | Thyroid | PTC | regulation of intrinsic apoptotic signaling pathway in response to DNA damage | 22/5968 | 36/18723 | 2.85e-04 | 2.02e-03 | 22 |
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 |