GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:190382916 | Endometrium | AEH | positive regulation of cellular protein localization | 66/2100 | 276/18723 | 1.57e-09 | 1.36e-07 | 66 |
GO:007265914 | Endometrium | AEH | protein localization to plasma membrane | 63/2100 | 284/18723 | 7.58e-08 | 3.92e-06 | 63 |
GO:006219716 | Endometrium | AEH | cellular response to chemical stress | 71/2100 | 337/18723 | 1.03e-07 | 5.05e-06 | 71 |
GO:003253510 | Endometrium | AEH | regulation of cellular component size | 78/2100 | 383/18723 | 1.10e-07 | 5.29e-06 | 78 |
GO:19907789 | Endometrium | AEH | protein localization to cell periphery | 68/2100 | 333/18723 | 6.38e-07 | 2.38e-05 | 68 |
GO:00356337 | Endometrium | AEH | maintenance of blood-brain barrier | 14/2100 | 35/18723 | 1.12e-05 | 2.52e-04 | 14 |
GO:19054779 | Endometrium | AEH | positive regulation of protein localization to membrane | 26/2100 | 106/18723 | 8.63e-05 | 1.27e-03 | 26 |
GO:00083616 | Endometrium | AEH | regulation of cell size | 38/2100 | 181/18723 | 9.69e-05 | 1.40e-03 | 38 |
GO:190437710 | Endometrium | AEH | positive regulation of protein localization to cell periphery | 19/2100 | 69/18723 | 1.49e-04 | 1.98e-03 | 19 |
GO:00510515 | Endometrium | AEH | negative regulation of transport | 79/2100 | 470/18723 | 1.51e-04 | 1.99e-03 | 79 |
GO:000189410 | Endometrium | AEH | tissue homeostasis | 50/2100 | 268/18723 | 2.04e-04 | 2.54e-03 | 50 |
GO:19023078 | Endometrium | AEH | positive regulation of sodium ion transmembrane transport | 9/2100 | 21/18723 | 2.30e-04 | 2.78e-03 | 9 |
GO:19030789 | Endometrium | AEH | positive regulation of protein localization to plasma membrane | 17/2100 | 62/18723 | 3.46e-04 | 3.80e-03 | 17 |
GO:00602499 | Endometrium | AEH | anatomical structure homeostasis | 55/2100 | 314/18723 | 5.27e-04 | 5.32e-03 | 55 |
GO:19054759 | Endometrium | AEH | regulation of protein localization to membrane | 34/2100 | 175/18723 | 9.62e-04 | 8.75e-03 | 34 |
GO:20006518 | Endometrium | AEH | positive regulation of sodium ion transmembrane transporter activity | 7/2100 | 16/18723 | 1.01e-03 | 8.97e-03 | 7 |
GO:00109597 | Endometrium | AEH | regulation of metal ion transport | 66/2100 | 406/18723 | 1.24e-03 | 1.07e-02 | 66 |
GO:00714704 | Endometrium | AEH | cellular response to osmotic stress | 12/2100 | 41/18723 | 1.35e-03 | 1.14e-02 | 12 |
GO:00712149 | Endometrium | AEH | cellular response to abiotic stimulus | 55/2100 | 331/18723 | 1.85e-03 | 1.46e-02 | 55 |
GO:01040049 | Endometrium | AEH | cellular response to environmental stimulus | 55/2100 | 331/18723 | 1.85e-03 | 1.46e-02 | 55 |
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 |
WNK3 | SNV | Missense_Mutation | | c.4279G>A | p.Glu1427Lys | p.E1427K | Q9BYP7 | protein_coding | tolerated(0.13) | probably_damaging(0.985) | TCGA-A1-A0SI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
WNK3 | SNV | Missense_Mutation | | c.182N>G | p.Lys61Arg | p.K61R | Q9BYP7 | protein_coding | tolerated(0.14) | benign(0.343) | TCGA-A8-A081-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
WNK3 | SNV | Missense_Mutation | | c.4262C>G | p.Ser1421Cys | p.S1421C | Q9BYP7 | protein_coding | tolerated(0.05) | possibly_damaging(0.671) | TCGA-A8-A095-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
WNK3 | SNV | Missense_Mutation | | c.3380N>C | p.Ile1127Thr | p.I1127T | Q9BYP7 | protein_coding | tolerated(0.46) | benign(0) | TCGA-A8-A096-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
WNK3 | SNV | Missense_Mutation | novel | c.1936N>G | p.Gln646Glu | p.Q646E | Q9BYP7 | protein_coding | deleterious(0.04) | benign(0.003) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
WNK3 | SNV | Missense_Mutation | rs3747286 | c.3637G>A | p.Glu1213Lys | p.E1213K | Q9BYP7 | protein_coding | deleterious(0.01) | possibly_damaging(0.642) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
WNK3 | SNV | Missense_Mutation | novel | c.3540G>T | p.Gln1180His | p.Q1180H | Q9BYP7 | protein_coding | deleterious(0.04) | benign(0.259) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
WNK3 | SNV | Missense_Mutation | novel | c.2179C>T | p.Arg727Trp | p.R727W | Q9BYP7 | protein_coding | deleterious(0) | probably_damaging(0.928) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
WNK3 | SNV | Missense_Mutation | novel | c.2078T>C | p.Leu693Pro | p.L693P | Q9BYP7 | protein_coding | tolerated(0.18) | benign(0) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
WNK3 | SNV | Missense_Mutation | | c.779N>A | p.Gly260Glu | p.G260E | Q9BYP7 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A0DQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |