Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Colorectum/Becker/KCNQ1_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Colorectum/Chen/KCNQ1_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Lung | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Lung/KCNQ1_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Thyroid | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Thyroid/KCNQ1_pca_on_diff_genes.png) | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:1901379 | Colorectum | CRC | regulation of potassium ion transmembrane transport | 20/2078 | 95/18723 | 3.46e-03 | 2.94e-02 | 20 |
GO:1903522 | Colorectum | CRC | regulation of blood circulation | 43/2078 | 256/18723 | 3.70e-03 | 3.12e-02 | 43 |
GO:0043266 | Colorectum | CRC | regulation of potassium ion transport | 22/2078 | 109/18723 | 3.87e-03 | 3.22e-02 | 22 |
GO:00551173 | Colorectum | CRC | regulation of cardiac muscle contraction | 17/2078 | 77/18723 | 4.05e-03 | 3.35e-02 | 17 |
GO:0002027 | Colorectum | CRC | regulation of heart rate | 21/2078 | 103/18723 | 4.15e-03 | 3.40e-02 | 21 |
GO:00353154 | Colorectum | CRC | hair cell differentiation | 12/2078 | 47/18723 | 4.33e-03 | 3.47e-02 | 12 |
GO:00713203 | Colorectum | CRC | cellular response to cAMP | 13/2078 | 53/18723 | 4.42e-03 | 3.47e-02 | 13 |
GO:00108763 | Colorectum | CRC | lipid localization | 68/2078 | 448/18723 | 4.60e-03 | 3.58e-02 | 68 |
GO:00226003 | Colorectum | CRC | digestive system process | 21/2078 | 104/18723 | 4.67e-03 | 3.62e-02 | 21 |
GO:00485683 | Colorectum | CRC | embryonic organ development | 65/2078 | 427/18723 | 5.15e-03 | 3.94e-02 | 65 |
GO:0090596 | Colorectum | CRC | sensory organ morphogenesis | 42/2078 | 256/18723 | 6.22e-03 | 4.54e-02 | 42 |
GO:00094103 | Colorectum | CRC | response to xenobiotic stimulus | 69/2078 | 462/18723 | 6.34e-03 | 4.61e-02 | 69 |
GO:00424912 | Colorectum | CRC | inner ear auditory receptor cell differentiation | 10/2078 | 38/18723 | 7.08e-03 | 4.92e-02 | 10 |
GO:000989616 | Endometrium | AEH | positive regulation of catabolic process | 104/2100 | 492/18723 | 9.38e-11 | 1.10e-08 | 104 |
GO:003133116 | Endometrium | AEH | positive regulation of cellular catabolic process | 91/2100 | 427/18723 | 9.15e-10 | 8.31e-08 | 91 |
GO:000640110 | Endometrium | AEH | RNA catabolic process | 63/2100 | 278/18723 | 3.28e-08 | 1.87e-06 | 63 |
GO:003465510 | Endometrium | AEH | nucleobase-containing compound catabolic process | 74/2100 | 407/18723 | 1.78e-05 | 3.65e-04 | 74 |
GO:004427010 | Endometrium | AEH | cellular nitrogen compound catabolic process | 80/2100 | 451/18723 | 2.09e-05 | 4.13e-04 | 80 |
GO:00467009 | Endometrium | AEH | heterocycle catabolic process | 79/2100 | 445/18723 | 2.27e-05 | 4.35e-04 | 79 |
GO:00194399 | Endometrium | AEH | aromatic compound catabolic process | 80/2100 | 467/18723 | 7.21e-05 | 1.10e-03 | 80 |
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 |
KCNQ1 | SNV | Missense_Mutation | rs199472704 | c.626C>T | p.Ser209Phe | p.S209F | P51787 | protein_coding | deleterious(0) | probably_damaging(0.932) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
KCNQ1 | SNV | Missense_Mutation | | c.653N>T | p.Lys218Met | p.K218M | P51787 | protein_coding | deleterious(0) | probably_damaging(0.92) | TCGA-A2-A04P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxol | PD |
KCNQ1 | SNV | Missense_Mutation | rs749351255 | c.553G>A | p.Val185Met | p.V185M | P51787 | protein_coding | tolerated(0.13) | possibly_damaging(0.539) | TCGA-A7-A26H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | PD |
KCNQ1 | SNV | Missense_Mutation | | c.1440N>A | p.Met480Ile | p.M480I | P51787 | protein_coding | tolerated(0.38) | benign(0) | TCGA-D8-A1XJ-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
KCNQ1 | insertion | In_Frame_Ins | novel | c.1461_1462insATTTTA | p.Glu487_Asp488insIleLeu | p.E487_D488insIL | P51787 | protein_coding | | | TCGA-A2-A0CQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
KCNQ1 | insertion | Frame_Shift_Ins | novel | c.1462_1463insATTTTTTTTCAGTAAGTTTGTATGTAGT | p.Leu489PhefsTer36 | p.L489Ffs*36 | P51787 | protein_coding | | | TCGA-A2-A0CQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
KCNQ1 | deletion | Frame_Shift_Del | rs776103376 | c.1258delN | p.Lys422SerfsTer10 | p.K422Sfs*10 | P51787 | protein_coding | | | TCGA-EW-A1IZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
KCNQ1 | SNV | Missense_Mutation | rs199472692 | c.484N>A | p.Val162Met | p.V162M | P51787 | protein_coding | deleterious(0) | probably_damaging(0.976) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
KCNQ1 | SNV | Missense_Mutation | | c.1278N>G | p.Asp426Glu | p.D426E | P51787 | protein_coding | tolerated(0.52) | benign(0.005) | TCGA-JX-A3PZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
KCNQ1 | SNV | Missense_Mutation | | c.1895N>A | p.Arg632Lys | p.R632K | P51787 | protein_coding | tolerated(0.62) | benign(0.036) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
3784 | KCNQ1 | DRUGGABLE GENOME, ION CHANNEL, CELL SURFACE | | INDAPAMIDE | INDAPAMIDE | |
3784 | KCNQ1 | DRUGGABLE GENOME, ION CHANNEL, CELL SURFACE | blocker | 135650484 | | |
3784 | KCNQ1 | DRUGGABLE GENOME, ION CHANNEL, CELL SURFACE | activator | 135650906 | | |
3784 | KCNQ1 | DRUGGABLE GENOME, ION CHANNEL, CELL SURFACE | | Indapamide | INDAPAMIDE | |
3784 | KCNQ1 | DRUGGABLE GENOME, ION CHANNEL, CELL SURFACE | blocker | 252166811 | | |
3784 | KCNQ1 | DRUGGABLE GENOME, ION CHANNEL, CELL SURFACE | | INSULIN | INSULIN | 17182020 |
3784 | KCNQ1 | DRUGGABLE GENOME, ION CHANNEL, CELL SURFACE | blocker | 53801037 | | |
3784 | KCNQ1 | DRUGGABLE GENOME, ION CHANNEL, CELL SURFACE | | BEPRIDIL | BEPRIDIL | |
3784 | KCNQ1 | DRUGGABLE GENOME, ION CHANNEL, CELL SURFACE | | ICA-105665 | | |
3784 | KCNQ1 | DRUGGABLE GENOME, ION CHANNEL, CELL SURFACE | blocker | 135650352 | CHEMBL298475 | |