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Gene: KCNQ1 |
Gene summary for KCNQ1 |
Gene summary. |
Gene information | Species | Human | Gene symbol | KCNQ1 | Gene ID | 3784 |
Gene name | potassium voltage-gated channel subfamily Q member 1 | |
Gene Alias | ATFB1 | |
Cytomap | 11p15.5-p15.4 | |
Gene Type | protein-coding | GO ID | GO:0001508 | UniProtAcc | P51787 |
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Malignant transformation analysis |
Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
Malignant transformation involving gene list. |
Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
3784 | KCNQ1 | RNA-P6T1-P6T1-4 | Human | Lung | MIAC | 8.94e-05 | 7.10e-01 | -0.0263 |
3784 | KCNQ1 | RNA-P6T2-P6T2-1 | Human | Lung | IAC | 7.93e-08 | 3.22e-01 | -0.0166 |
3784 | KCNQ1 | RNA-P6T2-P6T2-2 | Human | Lung | IAC | 3.61e-11 | 3.58e-01 | -0.0132 |
3784 | KCNQ1 | RNA-P6T2-P6T2-3 | Human | Lung | IAC | 1.73e-05 | 2.11e-01 | -0.013 |
3784 | KCNQ1 | RNA-P6T2-P6T2-4 | Human | Lung | IAC | 2.96e-03 | 2.35e-01 | -0.0121 |
3784 | KCNQ1 | male-WTA | Human | Thyroid | PTC | 8.82e-20 | 1.50e-01 | 0.1037 |
3784 | KCNQ1 | PTC01 | Human | Thyroid | PTC | 1.16e-10 | 2.85e-03 | 0.1899 |
3784 | KCNQ1 | PTC03 | Human | Thyroid | PTC | 5.26e-03 | -3.31e-02 | 0.1784 |
3784 | KCNQ1 | PTC04 | Human | Thyroid | PTC | 1.55e-11 | 1.67e-01 | 0.1927 |
3784 | KCNQ1 | PTC05 | Human | Thyroid | PTC | 2.65e-19 | 4.40e-01 | 0.2065 |
3784 | KCNQ1 | PTC06 | Human | Thyroid | PTC | 1.04e-18 | 2.17e-01 | 0.2057 |
3784 | KCNQ1 | PTC07 | Human | Thyroid | PTC | 2.21e-27 | 2.72e-01 | 0.2044 |
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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. |
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Malignant transformation related pathway analysis |
Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
Figure of enriched GO biological processes. |
Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | |
Colorectum | SER | |
Colorectum | MSS | |
Colorectum | MSI-H | |
Colorectum | FAP |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00064018 | Breast | Precancer | RNA catabolic process | 34/1080 | 278/18723 | 2.88e-05 | 6.39e-04 | 34 |
GO:00346558 | Breast | Precancer | nucleobase-containing compound catabolic process | 42/1080 | 407/18723 | 1.91e-04 | 3.06e-03 | 42 |
GO:00098969 | Breast | Precancer | positive regulation of catabolic process | 48/1080 | 492/18723 | 2.62e-04 | 3.84e-03 | 48 |
GO:00313319 | Breast | Precancer | positive regulation of cellular catabolic process | 43/1080 | 427/18723 | 2.75e-04 | 4.00e-03 | 43 |
GO:00467007 | Breast | Precancer | heterocycle catabolic process | 44/1080 | 445/18723 | 3.49e-04 | 4.88e-03 | 44 |
GO:00442708 | Breast | Precancer | cellular nitrogen compound catabolic process | 44/1080 | 451/18723 | 4.64e-04 | 6.12e-03 | 44 |
GO:00194397 | Breast | Precancer | aromatic compound catabolic process | 44/1080 | 467/18723 | 9.55e-04 | 1.07e-02 | 44 |
GO:00346604 | Breast | Precancer | ncRNA metabolic process | 45/1080 | 485/18723 | 1.15e-03 | 1.26e-02 | 45 |
GO:19013617 | Breast | Precancer | organic cyclic compound catabolic process | 45/1080 | 495/18723 | 1.73e-03 | 1.74e-02 | 45 |
GO:000989614 | Breast | IDC | positive regulation of catabolic process | 62/1434 | 492/18723 | 7.06e-05 | 1.42e-03 | 62 |
GO:003133114 | Breast | IDC | positive regulation of cellular catabolic process | 54/1434 | 427/18723 | 1.85e-04 | 3.07e-03 | 54 |
GO:000640113 | Breast | IDC | RNA catabolic process | 38/1434 | 278/18723 | 3.54e-04 | 5.16e-03 | 38 |
GO:190136112 | Breast | IDC | organic cyclic compound catabolic process | 56/1434 | 495/18723 | 2.12e-03 | 1.99e-02 | 56 |
GO:004670012 | Breast | IDC | heterocycle catabolic process | 51/1434 | 445/18723 | 2.51e-03 | 2.25e-02 | 51 |
GO:003465513 | Breast | IDC | nucleobase-containing compound catabolic process | 47/1434 | 407/18723 | 3.12e-03 | 2.63e-02 | 47 |
GO:004427012 | Breast | IDC | cellular nitrogen compound catabolic process | 50/1434 | 451/18723 | 5.29e-03 | 3.93e-02 | 50 |
GO:001943912 | Breast | IDC | aromatic compound catabolic process | 51/1434 | 467/18723 | 6.54e-03 | 4.59e-02 | 51 |
GO:000989624 | Breast | DCIS | positive regulation of catabolic process | 61/1390 | 492/18723 | 5.32e-05 | 1.09e-03 | 61 |
GO:003133124 | Breast | DCIS | positive regulation of cellular catabolic process | 54/1390 | 427/18723 | 8.34e-05 | 1.58e-03 | 54 |
GO:000640123 | Breast | DCIS | RNA catabolic process | 38/1390 | 278/18723 | 1.91e-04 | 3.08e-03 | 38 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05110 | Colorectum | AD | Vibrio cholerae infection | 29/2092 | 50/8465 | 5.10e-07 | 7.12e-06 | 4.54e-06 | 29 |
hsa04971 | Colorectum | AD | Gastric acid secretion | 29/2092 | 76/8465 | 6.25e-03 | 2.68e-02 | 1.71e-02 | 29 |
hsa04972 | Colorectum | AD | Pancreatic secretion | 36/2092 | 102/8465 | 1.06e-02 | 3.98e-02 | 2.54e-02 | 36 |
hsa051101 | Colorectum | AD | Vibrio cholerae infection | 29/2092 | 50/8465 | 5.10e-07 | 7.12e-06 | 4.54e-06 | 29 |
hsa049711 | Colorectum | AD | Gastric acid secretion | 29/2092 | 76/8465 | 6.25e-03 | 2.68e-02 | 1.71e-02 | 29 |
hsa049721 | Colorectum | AD | Pancreatic secretion | 36/2092 | 102/8465 | 1.06e-02 | 3.98e-02 | 2.54e-02 | 36 |
hsa051102 | Colorectum | SER | Vibrio cholerae infection | 24/1580 | 50/8465 | 2.17e-06 | 3.13e-05 | 2.28e-05 | 24 |
hsa049712 | Colorectum | SER | Gastric acid secretion | 27/1580 | 76/8465 | 3.65e-04 | 3.27e-03 | 2.38e-03 | 27 |
hsa049722 | Colorectum | SER | Pancreatic secretion | 30/1580 | 102/8465 | 5.41e-03 | 3.28e-02 | 2.38e-02 | 30 |
hsa051103 | Colorectum | SER | Vibrio cholerae infection | 24/1580 | 50/8465 | 2.17e-06 | 3.13e-05 | 2.28e-05 | 24 |
hsa049713 | Colorectum | SER | Gastric acid secretion | 27/1580 | 76/8465 | 3.65e-04 | 3.27e-03 | 2.38e-03 | 27 |
hsa049723 | Colorectum | SER | Pancreatic secretion | 30/1580 | 102/8465 | 5.41e-03 | 3.28e-02 | 2.38e-02 | 30 |
hsa051104 | Colorectum | MSS | Vibrio cholerae infection | 27/1875 | 50/8465 | 8.58e-07 | 1.20e-05 | 7.34e-06 | 27 |
hsa049714 | Colorectum | MSS | Gastric acid secretion | 27/1875 | 76/8465 | 5.20e-03 | 2.18e-02 | 1.34e-02 | 27 |
hsa04725 | Colorectum | MSS | Cholinergic synapse | 36/1875 | 113/8465 | 1.05e-02 | 3.69e-02 | 2.26e-02 | 36 |
hsa049724 | Colorectum | MSS | Pancreatic secretion | 33/1875 | 102/8465 | 1.09e-02 | 3.75e-02 | 2.30e-02 | 33 |
hsa051105 | Colorectum | MSS | Vibrio cholerae infection | 27/1875 | 50/8465 | 8.58e-07 | 1.20e-05 | 7.34e-06 | 27 |
hsa049715 | Colorectum | MSS | Gastric acid secretion | 27/1875 | 76/8465 | 5.20e-03 | 2.18e-02 | 1.34e-02 | 27 |
hsa047251 | Colorectum | MSS | Cholinergic synapse | 36/1875 | 113/8465 | 1.05e-02 | 3.69e-02 | 2.26e-02 | 36 |
hsa049725 | Colorectum | MSS | Pancreatic secretion | 33/1875 | 102/8465 | 1.09e-02 | 3.75e-02 | 2.30e-02 | 33 |
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Cell-cell communication analysis |
Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
Annotation of somatic variants for genes involved in malignant transformation |
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 |
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Related drugs of malignant transformation related genes |
Identification of chemicals and drugs interact with genes involved in malignant transfromation |
(DGIdb 4.0) |
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 |
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