GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:007252128 | Thyroid | ATC | purine-containing compound metabolic process | 189/6293 | 416/18723 | 2.83e-07 | 4.29e-06 | 189 |
GO:007138328 | Thyroid | ATC | cellular response to steroid hormone stimulus | 103/6293 | 204/18723 | 4.32e-07 | 6.30e-06 | 103 |
GO:000008216 | Thyroid | ATC | G1/S transition of mitotic cell cycle | 107/6293 | 214/18723 | 4.83e-07 | 6.99e-06 | 107 |
GO:003051826 | Thyroid | ATC | intracellular steroid hormone receptor signaling pathway | 65/6293 | 116/18723 | 5.58e-07 | 7.93e-06 | 65 |
GO:0006753111 | Thyroid | ATC | nucleoside phosphate metabolic process | 219/6293 | 497/18723 | 5.92e-07 | 8.29e-06 | 219 |
GO:005123532 | Thyroid | ATC | maintenance of location | 152/6293 | 327/18723 | 7.84e-07 | 1.04e-05 | 152 |
GO:0009117112 | Thyroid | ATC | nucleotide metabolic process | 215/6293 | 489/18723 | 9.09e-07 | 1.20e-05 | 215 |
GO:005105618 | Thyroid | ATC | regulation of small GTPase mediated signal transduction | 141/6293 | 302/18723 | 1.43e-06 | 1.77e-05 | 141 |
GO:000726619 | Thyroid | ATC | Rho protein signal transduction | 73/6293 | 137/18723 | 1.58e-06 | 1.93e-05 | 73 |
GO:003432924 | Thyroid | ATC | cell junction assembly | 187/6293 | 420/18723 | 1.71e-06 | 2.08e-05 | 187 |
GO:005165133 | Thyroid | ATC | maintenance of location in cell | 105/6293 | 214/18723 | 1.92e-06 | 2.31e-05 | 105 |
GO:004521629 | Thyroid | ATC | cell-cell junction organization | 99/6293 | 200/18723 | 2.26e-06 | 2.68e-05 | 99 |
GO:000616328 | Thyroid | ATC | purine nucleotide metabolic process | 177/6293 | 396/18723 | 2.39e-06 | 2.82e-05 | 177 |
GO:004657818 | Thyroid | ATC | regulation of Ras protein signal transduction | 94/6293 | 189/18723 | 3.12e-06 | 3.55e-05 | 94 |
GO:0051881110 | Thyroid | ATC | regulation of mitochondrial membrane potential | 44/6293 | 74/18723 | 4.51e-06 | 4.94e-05 | 44 |
GO:0043401111 | Thyroid | ATC | steroid hormone mediated signaling pathway | 71/6293 | 136/18723 | 5.72e-06 | 6.07e-05 | 71 |
GO:000915225 | Thyroid | ATC | purine ribonucleotide biosynthetic process | 84/6293 | 169/18723 | 1.05e-05 | 1.04e-04 | 84 |
GO:000327912 | Thyroid | ATC | cardiac septum development | 56/6293 | 103/18723 | 1.14e-05 | 1.11e-04 | 56 |
GO:001094813 | Thyroid | ATC | negative regulation of cell cycle process | 134/6293 | 294/18723 | 1.19e-05 | 1.15e-04 | 134 |
GO:003314316 | Thyroid | ATC | regulation of intracellular steroid hormone receptor signaling pathway | 43/6293 | 74/18723 | 1.30e-05 | 1.25e-04 | 43 |
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 |
ANK2 | SNV | Missense_Mutation | rs775323997 | c.3094N>A | p.Glu1032Lys | p.E1032K | Q01484 | protein_coding | deleterious(0) | probably_damaging(0.962) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
ANK2 | SNV | Missense_Mutation | novel | c.6349N>A | p.Asp2117Asn | p.D2117N | Q01484 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.642) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
ANK2 | SNV | Missense_Mutation | | c.2728C>G | p.Leu910Val | p.L910V | Q01484 | protein_coding | tolerated(0.07) | benign(0.135) | TCGA-A2-A0CT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
ANK2 | SNV | Missense_Mutation | rs754722115 | c.4280N>A | p.Arg1427Gln | p.R1427Q | Q01484 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A7-A4SC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
ANK2 | SNV | Missense_Mutation | rs367592943 | c.5827G>A | p.Gly1943Arg | p.G1943R | Q01484 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.506) | TCGA-A8-A06T-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
ANK2 | SNV | Missense_Mutation | | c.4222N>A | p.Glu1408Lys | p.E1408K | Q01484 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ANK2 | SNV | Missense_Mutation | | c.7868N>A | p.Ser2623Tyr | p.S2623Y | Q01484 | protein_coding | tolerated_low_confidence(0.83) | possibly_damaging(0.66) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ANK2 | SNV | Missense_Mutation | novel | c.6215C>A | p.Ser2072Tyr | p.S2072Y | Q01484 | protein_coding | tolerated_low_confidence(0.07) | benign(0.367) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ANK2 | SNV | Missense_Mutation | novel | c.7594G>T | p.Gly2532Trp | p.G2532W | Q01484 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ANK2 | SNV | Missense_Mutation | novel | c.8177C>A | p.Thr2726Asn | p.T2726N | Q01484 | protein_coding | tolerated_low_confidence(0.51) | benign(0) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |