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Gene: KCNH8 |
Gene summary for KCNH8 |
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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 |
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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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∗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 |
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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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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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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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 |
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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 | novel | c.826N>G | p.Phe276Val | p.F276V | Q96L42 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-DF-A2KV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KCNH8 | SNV | Missense_Mutation | novel | c.82N>G | p.Asn28Asp | p.N28D | Q96L42 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
KCNH8 | SNV | Missense_Mutation | novel | c.1478T>G | p.Phe493Cys | p.F493C | Q96L42 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KCNH8 | SNV | Missense_Mutation | novel | c.116N>A | p.Gly39Asp | p.G39D | Q96L42 | protein_coding | tolerated(0.16) | probably_damaging(0.985) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KCNH8 | SNV | Missense_Mutation | novel | c.1159N>A | p.Leu387Ile | p.L387I | Q96L42 | protein_coding | tolerated(0.36) | benign(0.026) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KCNH8 | SNV | Missense_Mutation | novel | c.2462N>G | p.Asn821Ser | p.N821S | Q96L42 | protein_coding | tolerated(0.68) | benign(0.001) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KCNH8 | SNV | Missense_Mutation | novel | c.2740N>A | p.Ser914Thr | p.S914T | Q96L42 | protein_coding | tolerated_low_confidence(0.36) | benign(0.003) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KCNH8 | SNV | Missense_Mutation | c.170N>A | p.Arg57Gln | p.R57Q | Q96L42 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response | |
KCNH8 | SNV | Missense_Mutation | rs183033030 | c.795N>T | p.Glu265Asp | p.E265D | Q96L42 | protein_coding | tolerated(0.14) | probably_damaging(0.971) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
KCNH8 | SNV | Missense_Mutation | novel | c.2393N>G | p.Leu798Arg | p.L798R | Q96L42 | protein_coding | tolerated(0.05) | possibly_damaging(0.536) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
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Related drugs of malignant transformation related genes |
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(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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