GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001095913 | Breast | IDC | regulation of metal ion transport | 52/1434 | 406/18723 | 1.76e-04 | 2.97e-03 | 52 |
GO:002289812 | Breast | IDC | regulation of transmembrane transporter activity | 36/1434 | 278/18723 | 1.35e-03 | 1.40e-02 | 36 |
GO:00613373 | Breast | IDC | cardiac conduction | 16/1434 | 98/18723 | 3.06e-03 | 2.60e-02 | 16 |
GO:00423912 | Breast | IDC | regulation of membrane potential | 49/1434 | 434/18723 | 4.04e-03 | 3.25e-02 | 49 |
GO:00324125 | Breast | IDC | regulation of ion transmembrane transporter activity | 33/1434 | 267/18723 | 4.38e-03 | 3.40e-02 | 33 |
GO:00324096 | Breast | IDC | regulation of transporter activity | 37/1434 | 310/18723 | 4.77e-03 | 3.66e-02 | 37 |
GO:00860015 | Breast | IDC | cardiac muscle cell action potential | 13/1434 | 76/18723 | 4.81e-03 | 3.67e-02 | 13 |
GO:00020271 | Breast | IDC | regulation of heart rate | 16/1434 | 103/18723 | 5.06e-03 | 3.79e-02 | 16 |
GO:00030125 | Breast | IDC | muscle system process | 50/1434 | 452/18723 | 5.52e-03 | 4.05e-02 | 50 |
GO:00015082 | Breast | IDC | action potential | 19/1434 | 134/18723 | 6.62e-03 | 4.62e-02 | 19 |
GO:0070839 | Breast | IDC | metal ion export | 10/1434 | 54/18723 | 7.22e-03 | 4.96e-02 | 10 |
GO:001095921 | Breast | DCIS | regulation of metal ion transport | 50/1390 | 406/18723 | 2.86e-04 | 4.22e-03 | 50 |
GO:002289822 | Breast | DCIS | regulation of transmembrane transporter activity | 35/1390 | 278/18723 | 1.50e-03 | 1.51e-02 | 35 |
GO:000301212 | Breast | DCIS | muscle system process | 50/1390 | 452/18723 | 3.02e-03 | 2.57e-02 | 50 |
GO:003241212 | Breast | DCIS | regulation of ion transmembrane transporter activity | 32/1390 | 267/18723 | 4.97e-03 | 3.72e-02 | 32 |
GO:003240912 | Breast | DCIS | regulation of transporter activity | 36/1390 | 310/18723 | 5.05e-03 | 3.74e-02 | 36 |
GO:006133711 | Breast | DCIS | cardiac conduction | 15/1390 | 98/18723 | 5.65e-03 | 4.09e-02 | 15 |
GO:00708391 | Breast | DCIS | metal ion export | 10/1390 | 54/18723 | 5.83e-03 | 4.18e-02 | 10 |
GO:00423911 | Breast | DCIS | regulation of membrane potential | 47/1390 | 434/18723 | 5.87e-03 | 4.20e-02 | 47 |
GO:005105114 | Thyroid | ATC | negative regulation of transport | 183/6293 | 470/18723 | 8.12e-03 | 3.13e-02 | 183 |
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 |
KCNE4 | SNV | Missense_Mutation | novel | c.258N>C | p.Glu86Asp | p.E86D | Q8WWG9 | protein_coding | tolerated(0.05) | probably_damaging(0.998) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
KCNE4 | SNV | Missense_Mutation | novel | c.536N>G | p.Glu179Gly | p.E179G | Q8WWG9 | protein_coding | tolerated(0.06) | probably_damaging(0.999) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
KCNE4 | SNV | Missense_Mutation | novel | c.83G>A | p.Gly28Glu | p.G28E | Q8WWG9 | protein_coding | tolerated_low_confidence(0.23) | benign(0.042) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KCNE4 | SNV | Missense_Mutation | rs778001148 | c.327G>T | p.Met109Ile | p.M109I | Q8WWG9 | protein_coding | tolerated(0.27) | benign(0.153) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KCNE4 | SNV | Missense_Mutation | rs754079444 | c.645G>T | p.Glu215Asp | p.E215D | Q8WWG9 | protein_coding | tolerated_low_confidence(0.09) | possibly_damaging(0.526) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KCNE4 | SNV | Missense_Mutation | | c.425C>T | p.Ser142Leu | p.S142L | Q8WWG9 | protein_coding | deleterious(0.01) | benign(0.331) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KCNE4 | SNV | Missense_Mutation | rs750286653 | c.223C>T | p.Arg75Cys | p.R75C | Q8WWG9 | protein_coding | deleterious(0.02) | possibly_damaging(0.599) | TCGA-UB-A7MA-01 | Liver | liver hepatocellular carcinoma | Female | <65 | I/II | Chemotherapy | gemcitabine | PD |
KCNE4 | SNV | Missense_Mutation | novel | c.243N>A | p.Ser81Arg | p.S81R | Q8WWG9 | protein_coding | tolerated(0.16) | possibly_damaging(0.632) | TCGA-55-7576-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Chemotherapy | alimta | CR |
KCNE4 | SNV | Missense_Mutation | | c.550G>C | p.Asp184His | p.D184H | Q8WWG9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-64-1679-01 | Lung | lung adenocarcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
KCNE4 | SNV | Missense_Mutation | | c.518G>T | p.Gly173Val | p.G173V | Q8WWG9 | protein_coding | deleterious(0.02) | probably_damaging(0.976) | TCGA-64-5775-01 | Lung | lung adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | carboplatin | PD |