GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0030111 | Colorectum | AD | regulation of Wnt signaling pathway | 102/3918 | 328/18723 | 8.51e-06 | 2.03e-04 | 102 |
GO:0016055 | Colorectum | AD | Wnt signaling pathway | 130/3918 | 444/18723 | 1.60e-05 | 3.37e-04 | 130 |
GO:0198738 | Colorectum | AD | cell-cell signaling by wnt | 130/3918 | 446/18723 | 2.02e-05 | 4.10e-04 | 130 |
GO:0046777 | Colorectum | AD | protein autophosphorylation | 74/3918 | 227/18723 | 2.48e-05 | 4.76e-04 | 74 |
GO:0002028 | Colorectum | AD | regulation of sodium ion transport | 36/3918 | 90/18723 | 2.89e-05 | 5.37e-04 | 36 |
GO:0060070 | Colorectum | AD | canonical Wnt signaling pathway | 90/3918 | 303/18723 | 1.76e-04 | 2.38e-03 | 90 |
GO:0060828 | Colorectum | AD | regulation of canonical Wnt signaling pathway | 77/3918 | 253/18723 | 2.19e-04 | 2.87e-03 | 77 |
GO:0010765 | Colorectum | AD | positive regulation of sodium ion transport | 17/3918 | 35/18723 | 2.48e-04 | 3.13e-03 | 17 |
GO:1902305 | Colorectum | AD | regulation of sodium ion transmembrane transport | 27/3918 | 68/18723 | 3.19e-04 | 3.80e-03 | 27 |
GO:0043409 | Colorectum | AD | negative regulation of MAPK cascade | 57/3918 | 180/18723 | 4.61e-04 | 5.14e-03 | 57 |
GO:2000649 | Colorectum | AD | regulation of sodium ion transmembrane transporter activity | 23/3918 | 58/18723 | 8.82e-04 | 8.53e-03 | 23 |
GO:0030177 | Colorectum | AD | positive regulation of Wnt signaling pathway | 45/3918 | 140/18723 | 1.23e-03 | 1.09e-02 | 45 |
GO:1902307 | Colorectum | AD | positive regulation of sodium ion transmembrane transport | 11/3918 | 21/18723 | 1.43e-03 | 1.22e-02 | 11 |
GO:2000651 | Colorectum | AD | positive regulation of sodium ion transmembrane transporter activity | 9/3918 | 16/18723 | 2.06e-03 | 1.64e-02 | 9 |
GO:0032411 | Colorectum | AD | positive regulation of transporter activity | 37/3918 | 120/18723 | 6.82e-03 | 4.22e-02 | 37 |
GO:00467771 | Colorectum | SER | protein autophosphorylation | 60/2897 | 227/18723 | 1.36e-05 | 4.25e-04 | 60 |
GO:00020281 | Colorectum | SER | regulation of sodium ion transport | 28/2897 | 90/18723 | 1.45e-04 | 2.86e-03 | 28 |
GO:00160551 | Colorectum | SER | Wnt signaling pathway | 97/2897 | 444/18723 | 2.02e-04 | 3.68e-03 | 97 |
GO:01987381 | Colorectum | SER | cell-cell signaling by wnt | 97/2897 | 446/18723 | 2.39e-04 | 4.11e-03 | 97 |
GO:00301111 | Colorectum | SER | regulation of Wnt signaling pathway | 75/2897 | 328/18723 | 2.47e-04 | 4.20e-03 | 75 |
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 |
WNK2 | SNV | Missense_Mutation | | c.2279C>T | p.Pro760Leu | p.P760L | Q9Y3S1 | protein_coding | tolerated(0.06) | benign(0.007) | TCGA-A2-A1FW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD |
WNK2 | SNV | Missense_Mutation | rs765224623 | c.4892G>A | p.Arg1631His | p.R1631H | Q9Y3S1 | protein_coding | tolerated(0.65) | benign(0) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
WNK2 | SNV | Missense_Mutation | rs763861327 | c.1318N>A | p.Glu440Lys | p.E440K | Q9Y3S1 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
WNK2 | SNV | Missense_Mutation | | c.4882G>C | p.Asp1628His | p.D1628H | Q9Y3S1 | protein_coding | deleterious(0.04) | probably_damaging(0.996) | TCGA-AR-A1AH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | | PD |
WNK2 | SNV | Missense_Mutation | novel | c.5977G>T | p.Ala1993Ser | p.A1993S | Q9Y3S1 | protein_coding | deleterious(0.02) | probably_damaging(0.989) | TCGA-AR-A1AY-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unspecific | Doxorubicin | SD |
WNK2 | SNV | Missense_Mutation | | c.1278N>G | p.Ile426Met | p.I426M | Q9Y3S1 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-BH-A0HP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
WNK2 | SNV | Missense_Mutation | | c.4493N>C | p.Glu1498Ala | p.E1498A | Q9Y3S1 | protein_coding | tolerated(0.07) | possibly_damaging(0.76) | TCGA-BH-A18H-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
WNK2 | insertion | In_Frame_Ins | novel | c.1523_1524insCTCCAGCTCACCCTCTGC | p.Asp508_Glu509insSerSerSerProSerAla | p.D508_E509insSSSPSA | Q9Y3S1 | protein_coding | | | TCGA-A8-A09B-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
WNK2 | deletion | Frame_Shift_Del | novel | c.2256delN | p.Gln753SerfsTer23 | p.Q753Sfs*23 | Q9Y3S1 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
WNK2 | SNV | Missense_Mutation | novel | c.720N>T | p.Lys240Asn | p.K240N | Q9Y3S1 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |