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Gene: KCNH8 |
Gene summary for KCNH8 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | KCNH8 | Gene ID | 131096 |
| Gene name | potassium voltage-gated channel subfamily H member 8 | |
| Gene Alias | ELK | |
| Cytomap | 3p24.3 | |
| Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | Q96L42 |
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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 |
| 131096 | KCNH8 | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.30e-02 | -9.78e-02 | 0.0155 |
| 131096 | KCNH8 | HTA11_1938_2000001011 | Human | Colorectum | AD | 4.50e-02 | 3.23e-01 | -0.0811 |
| 131096 | KCNH8 | HTA11_866_3004761011 | Human | Colorectum | AD | 2.10e-04 | -7.85e-02 | 0.096 |
| 131096 | KCNH8 | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 1.93e-08 | 1.68e+00 | 0.3487 |
| 131096 | KCNH8 | F007 | Human | Colorectum | FAP | 1.95e-03 | 5.35e-01 | 0.1176 |
| 131096 | KCNH8 | A001-C-207 | Human | Colorectum | FAP | 1.57e-05 | 5.68e-01 | 0.1278 |
| 131096 | KCNH8 | A015-C-203 | Human | Colorectum | FAP | 9.85e-03 | 1.82e-01 | -0.1294 |
| 131096 | KCNH8 | A002-C-203 | Human | Colorectum | FAP | 1.33e-08 | 6.10e-01 | 0.2786 |
| 131096 | KCNH8 | A001-C-119 | Human | Colorectum | FAP | 1.81e-02 | 4.72e-01 | -0.1557 |
| 131096 | KCNH8 | A001-C-108 | Human | Colorectum | FAP | 2.69e-08 | 5.71e-01 | -0.0272 |
| 131096 | KCNH8 | A002-C-021 | Human | Colorectum | FAP | 2.90e-03 | 4.06e-01 | 0.1171 |
| 131096 | KCNH8 | A002-C-205 | Human | Colorectum | FAP | 2.78e-05 | 4.02e-01 | -0.1236 |
| 131096 | KCNH8 | A001-C-104 | Human | Colorectum | FAP | 1.57e-15 | 7.04e-01 | 0.0184 |
| 131096 | KCNH8 | A002-C-114 | Human | Colorectum | FAP | 4.47e-04 | 4.26e-01 | -0.1561 |
| 131096 | KCNH8 | A015-C-104 | Human | Colorectum | FAP | 2.11e-02 | 1.82e-01 | -0.1899 |
| 131096 | KCNH8 | A001-C-014 | Human | Colorectum | FAP | 1.60e-05 | 4.67e-01 | 0.0135 |
| 131096 | KCNH8 | A001-C-203 | Human | Colorectum | FAP | 2.12e-05 | 5.18e-01 | -0.0481 |
| 131096 | KCNH8 | A002-C-116 | Human | Colorectum | FAP | 3.71e-02 | 2.97e-02 | -0.0452 |
| 131096 | KCNH8 | CRC-1-8810 | Human | Colorectum | CRC | 1.21e-03 | 4.59e-01 | 0.6257 |
| 131096 | KCNH8 | CRC-3-11773 | Human | Colorectum | CRC | 1.71e-07 | 4.82e-01 | 0.2564 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer |
| ∗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:0042391 | Colorectum | CRC | regulation of membrane potential | 67/2078 | 434/18723 | 3.27e-03 | 2.81e-02 | 67 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
| KCNH8 | SNV | Missense_Mutation | c.781N>T | p.Asp261Tyr | p.D261Y | Q96L42 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
| KCNH8 | SNV | Missense_Mutation | c.1211N>T | p.Ser404Phe | p.S404F | Q96L42 | protein_coding | deleterious(0) | benign(0.125) | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
| KCNH8 | SNV | Missense_Mutation | novel | c.1620N>T | p.Met540Ile | p.M540I | Q96L42 | protein_coding | deleterious(0.01) | possibly_damaging(0.575) | TCGA-AC-A8OS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| KCNH8 | SNV | Missense_Mutation | c.172N>G | p.Thr58Ala | p.T58A | Q96L42 | protein_coding | tolerated(0.85) | benign(0.08) | TCGA-AR-A24K-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD | |
| KCNH8 | SNV | Missense_Mutation | c.170N>A | p.Arg57Gln | p.R57Q | Q96L42 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| KCNH8 | SNV | Missense_Mutation | rs373684361 | c.386C>T | p.Ser129Leu | p.S129L | Q96L42 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
| KCNH8 | SNV | Missense_Mutation | rs773194583 | c.1484N>A | p.Arg495His | p.R495H | Q96L42 | protein_coding | deleterious(0.01) | probably_damaging(0.934) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| KCNH8 | SNV | Missense_Mutation | novel | c.940N>A | p.Asp314Asn | p.D314N | Q96L42 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E2-A2P6-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
| KCNH8 | SNV | Missense_Mutation | novel | c.1387N>T | p.Ala463Ser | p.A463S | Q96L42 | protein_coding | deleterious(0.02) | probably_damaging(0.998) | TCGA-EW-A6SC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | aromatase | SD |
| KCNH8 | SNV | Missense_Mutation | novel | c.1486N>T | p.Val496Phe | p.V496F | Q96L42 | protein_coding | tolerated(0.2) | possibly_damaging(0.795) | TCGA-GM-A3NY-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
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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 |
| 131096 | KCNH8 | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL1200728 | GUANIDINE HYDROCHLORIDE | |
| 131096 | KCNH8 | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL113461 | TEDISAMIL | |
| 131096 | KCNH8 | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL2107762 | NERISPIRDINE | |
| 131096 | KCNH8 | DRUGGABLE GENOME, ION CHANNEL | blocker | 135652729 | ||
| 131096 | KCNH8 | DRUGGABLE GENOME, ION CHANNEL | blocker | CHEMBL284348 | DALFAMPRIDINE |
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