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.1988C>T | p.Ser663Leu | p.S663L | Q9BYP7 | protein_coding | tolerated(0.15) | benign(0) | TCGA-BH-A0HP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
WNK3 | SNV | Missense_Mutation | | c.2349N>C | p.Glu783Asp | p.E783D | Q9BYP7 | protein_coding | tolerated(0.12) | possibly_damaging(0.874) | TCGA-BH-A1FM-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
WNK3 | SNV | Missense_Mutation | | c.3713N>T | p.Ser1238Ile | p.S1238I | Q9BYP7 | protein_coding | deleterious(0.01) | benign(0.036) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
WNK3 | SNV | Missense_Mutation | rs782728825 | c.1715N>A | p.Gly572Glu | p.G572E | Q9BYP7 | protein_coding | tolerated(0.08) | benign(0.009) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
WNK3 | SNV | Missense_Mutation | | c.4745N>G | p.Pro1582Arg | p.P1582R | Q9BYP7 | protein_coding | deleterious(0.01) | benign(0.039) | TCGA-E9-A243-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | PD |
WNK3 | insertion | Frame_Shift_Ins | novel | c.4486_4487insT | p.Cys1496LeufsTer28 | p.C1496Lfs*28 | Q9BYP7 | protein_coding | | | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
WNK3 | insertion | Nonsense_Mutation | novel | c.4484_4485insCTAGTGAAG | p.Gln1495delinsHisTerTerArg | p.Q1495delinsH**R | Q9BYP7 | protein_coding | | | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
WNK3 | insertion | In_Frame_Ins | novel | c.3328_3329insGGCATTTCT | p.Ile1110delinsArgHisPhePhe | p.I1110delinsRHFF | Q9BYP7 | protein_coding | | | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
WNK3 | deletion | Frame_Shift_Del | novel | c.4788delT | p.Arg1597GlufsTer7 | p.R1597Efs*7 | Q9BYP7 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
WNK3 | SNV | Missense_Mutation | novel | c.5087N>T | p.Thr1696Ile | p.T1696I | Q9BYP7 | protein_coding | deleterious(0) | possibly_damaging(0.563) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |