GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004854510 | Cervix | CC | response to steroid hormone | 74/2311 | 339/18723 | 5.71e-07 | 2.09e-05 | 74 |
GO:00305229 | Cervix | CC | intracellular receptor signaling pathway | 60/2311 | 265/18723 | 1.89e-06 | 5.97e-05 | 60 |
GO:190165410 | Cervix | CC | response to ketone | 45/2311 | 194/18723 | 1.83e-05 | 3.44e-04 | 45 |
GO:00165705 | Cervix | CC | histone modification | 84/2311 | 463/18723 | 1.70e-04 | 2.01e-03 | 84 |
GO:00325704 | Cervix | CC | response to progesterone | 13/2311 | 37/18723 | 2.99e-04 | 3.21e-03 | 13 |
GO:00713839 | Cervix | CC | cellular response to steroid hormone stimulus | 40/2311 | 204/18723 | 1.93e-03 | 1.42e-02 | 40 |
GO:00305188 | Cervix | CC | intracellular steroid hormone receptor signaling pathway | 25/2311 | 116/18723 | 3.59e-03 | 2.30e-02 | 25 |
GO:001657017 | Thyroid | ATC | histone modification | 243/6293 | 463/18723 | 2.23e-17 | 2.27e-15 | 243 |
GO:0048545210 | Thyroid | ATC | response to steroid hormone | 168/6293 | 339/18723 | 7.21e-10 | 1.88e-08 | 168 |
GO:190165427 | Thyroid | ATC | response to ketone | 105/6293 | 194/18723 | 2.96e-09 | 6.96e-08 | 105 |
GO:0030522112 | Thyroid | ATC | intracellular receptor signaling pathway | 134/6293 | 265/18723 | 7.58e-09 | 1.63e-07 | 134 |
GO:007138328 | Thyroid | ATC | cellular response to steroid hormone stimulus | 103/6293 | 204/18723 | 4.32e-07 | 6.30e-06 | 103 |
GO:003051826 | Thyroid | ATC | intracellular steroid hormone receptor signaling pathway | 65/6293 | 116/18723 | 5.58e-07 | 7.93e-06 | 65 |
GO:003560114 | Thyroid | ATC | protein deacylation | 61/6293 | 112/18723 | 4.37e-06 | 4.79e-05 | 61 |
GO:000647614 | Thyroid | ATC | protein deacetylation | 56/6293 | 101/18723 | 5.15e-06 | 5.57e-05 | 56 |
GO:0043401111 | Thyroid | ATC | steroid hormone mediated signaling pathway | 71/6293 | 136/18723 | 5.72e-06 | 6.07e-05 | 71 |
GO:001657512 | Thyroid | ATC | histone deacetylation | 47/6293 | 82/18723 | 8.75e-06 | 8.81e-05 | 47 |
GO:009873213 | Thyroid | ATC | macromolecule deacylation | 61/6293 | 116/18723 | 1.89e-05 | 1.72e-04 | 61 |
GO:003257018 | Thyroid | ATC | response to progesterone | 25/6293 | 37/18723 | 2.50e-05 | 2.16e-04 | 25 |
GO:190165521 | Thyroid | ATC | cellular response to ketone | 52/6293 | 96/18723 | 2.65e-05 | 2.27e-04 | 52 |
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 |
TRERF1 | SNV | Missense_Mutation | | c.1663N>G | p.Gln555Glu | p.Q555E | | protein_coding | tolerated_low_confidence(0.26) | benign(0.035) | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
TRERF1 | SNV | Missense_Mutation | novel | c.2789N>A | p.Ile930Asn | p.I930N | | protein_coding | tolerated(0.06) | benign(0.347) | TCGA-AC-A2QI-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cytoxan | CR |
TRERF1 | SNV | Missense_Mutation | | c.1660N>A | p.Pro554Thr | p.P554T | | protein_coding | tolerated_low_confidence(0.08) | benign(0.143) | TCGA-AN-A0AR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TRERF1 | SNV | Missense_Mutation | novel | c.689N>A | p.Gly230Glu | p.G230E | | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.696) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
TRERF1 | insertion | Nonsense_Mutation | novel | c.3008_3009insATAGGCAAGTTCTAGAG | p.Pro1004Ter | p.P1004* | | protein_coding | | | TCGA-A7-A0CJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
TRERF1 | insertion | Nonsense_Mutation | novel | c.686_687insGGACTTTTTGTGACCTTTAATATGGTAGTATGCATTGT | p.Gly230AspfsTer4 | p.G230Dfs*4 | | protein_coding | | | TCGA-AN-A03X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TRERF1 | SNV | Missense_Mutation | novel | c.3415G>A | p.Ala1139Thr | p.A1139T | | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TRERF1 | SNV | Missense_Mutation | novel | c.3202G>A | p.Gly1068Ser | p.G1068S | | protein_coding | tolerated(0.71) | benign(0.001) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
TRERF1 | SNV | Missense_Mutation | | c.2620N>A | p.Glu874Lys | p.E874K | | protein_coding | deleterious(0.02) | probably_damaging(0.968) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
TRERF1 | SNV | Missense_Mutation | | c.1901C>T | p.Ser634Phe | p.S634F | | protein_coding | deleterious(0.01) | probably_damaging(0.994) | TCGA-Q1-A6DT-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |