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Gene: TRPV4 |
Gene summary for TRPV4 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | TRPV4 | Gene ID | 59341 |
| Gene name | transient receptor potential cation channel subfamily V member 4 | |
| Gene Alias | BCYM3 | |
| Cytomap | 12q24.11 | |
| Gene Type | protein-coding | GO ID | GO:0000122 | UniProtAcc | Q9HBA0 |
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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 |
| 59341 | TRPV4 | LZE4T | Human | Esophagus | ESCC | 5.70e-07 | 1.28e-01 | 0.0811 |
| 59341 | TRPV4 | LZE7T | Human | Esophagus | ESCC | 1.99e-15 | 3.13e-01 | 0.0667 |
| 59341 | TRPV4 | LZE8T | Human | Esophagus | ESCC | 3.04e-08 | 2.42e-01 | 0.067 |
| 59341 | TRPV4 | LZE20T | Human | Esophagus | ESCC | 8.91e-04 | 7.64e-02 | 0.0662 |
| 59341 | TRPV4 | LZE22D1 | Human | Esophagus | HGIN | 1.17e-02 | 8.91e-02 | 0.0595 |
| 59341 | TRPV4 | LZE22T | Human | Esophagus | ESCC | 4.20e-04 | 2.54e-01 | 0.068 |
| 59341 | TRPV4 | LZE24T | Human | Esophagus | ESCC | 1.64e-09 | 2.05e-01 | 0.0596 |
| 59341 | TRPV4 | P1T-E | Human | Esophagus | ESCC | 9.03e-18 | 6.16e-01 | 0.0875 |
| 59341 | TRPV4 | P2T-E | Human | Esophagus | ESCC | 3.52e-47 | 8.59e-01 | 0.1177 |
| 59341 | TRPV4 | P4T-E | Human | Esophagus | ESCC | 8.02e-17 | 3.49e-01 | 0.1323 |
| 59341 | TRPV4 | P5T-E | Human | Esophagus | ESCC | 1.16e-16 | 2.51e-01 | 0.1327 |
| 59341 | TRPV4 | P8T-E | Human | Esophagus | ESCC | 1.24e-22 | 3.34e-01 | 0.0889 |
| 59341 | TRPV4 | P9T-E | Human | Esophagus | ESCC | 4.06e-19 | 2.48e-01 | 0.1131 |
| 59341 | TRPV4 | P10T-E | Human | Esophagus | ESCC | 6.89e-25 | 3.89e-01 | 0.116 |
| 59341 | TRPV4 | P11T-E | Human | Esophagus | ESCC | 3.96e-05 | 2.95e-01 | 0.1426 |
| 59341 | TRPV4 | P12T-E | Human | Esophagus | ESCC | 1.11e-18 | 3.20e-01 | 0.1122 |
| 59341 | TRPV4 | P15T-E | Human | Esophagus | ESCC | 1.27e-20 | 4.27e-01 | 0.1149 |
| 59341 | TRPV4 | P16T-E | Human | Esophagus | ESCC | 1.71e-08 | 2.03e-01 | 0.1153 |
| 59341 | TRPV4 | P17T-E | Human | Esophagus | ESCC | 3.56e-03 | 1.03e-01 | 0.1278 |
| 59341 | TRPV4 | P20T-E | Human | Esophagus | ESCC | 7.83e-14 | 2.25e-01 | 0.1124 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma |
| ∗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:000906020 | Esophagus | HGIN | aerobic respiration | 81/2587 | 189/18723 | 1.07e-22 | 9.26e-20 | 81 |
| GO:000609120 | Esophagus | HGIN | generation of precursor metabolites and energy | 145/2587 | 490/18723 | 3.41e-20 | 2.04e-17 | 145 |
| GO:004533320 | Esophagus | HGIN | cellular respiration | 86/2587 | 230/18723 | 2.41e-19 | 1.20e-16 | 86 |
| GO:001598020 | Esophagus | HGIN | energy derivation by oxidation of organic compounds | 105/2587 | 318/18723 | 1.16e-18 | 4.99e-16 | 105 |
| GO:003460520 | Esophagus | HGIN | cellular response to heat | 30/2587 | 69/18723 | 1.78e-09 | 1.35e-07 | 30 |
| GO:002241120 | Esophagus | HGIN | cellular component disassembly | 102/2587 | 443/18723 | 8.31e-08 | 4.33e-06 | 102 |
| GO:000940819 | Esophagus | HGIN | response to heat | 34/2587 | 110/18723 | 2.94e-06 | 1.01e-04 | 34 |
| GO:006219727 | Esophagus | HGIN | cellular response to chemical stress | 76/2587 | 337/18723 | 8.00e-06 | 2.41e-04 | 76 |
| GO:005125826 | Esophagus | HGIN | protein polymerization | 66/2587 | 297/18723 | 4.96e-05 | 1.19e-03 | 66 |
| GO:004346718 | Esophagus | HGIN | regulation of generation of precursor metabolites and energy | 34/2587 | 130/18723 | 1.37e-04 | 2.76e-03 | 34 |
| GO:190290327 | Esophagus | HGIN | regulation of supramolecular fiber organization | 79/2587 | 383/18723 | 1.40e-04 | 2.81e-03 | 79 |
| GO:000926618 | Esophagus | HGIN | response to temperature stimulus | 42/2587 | 178/18723 | 2.91e-04 | 4.98e-03 | 42 |
| GO:003298415 | Esophagus | HGIN | protein-containing complex disassembly | 50/2587 | 224/18723 | 3.43e-04 | 5.56e-03 | 50 |
| GO:007121418 | Esophagus | HGIN | cellular response to abiotic stimulus | 66/2587 | 331/18723 | 1.21e-03 | 1.45e-02 | 66 |
| GO:010400418 | Esophagus | HGIN | cellular response to environmental stimulus | 66/2587 | 331/18723 | 1.21e-03 | 1.45e-02 | 66 |
| GO:003166726 | Esophagus | HGIN | response to nutrient levels | 89/2587 | 474/18723 | 1.41e-03 | 1.64e-02 | 89 |
| GO:004343420 | Esophagus | HGIN | response to peptide hormone | 79/2587 | 414/18723 | 1.60e-03 | 1.79e-02 | 79 |
| GO:190290526 | Esophagus | HGIN | positive regulation of supramolecular fiber organization | 43/2587 | 209/18723 | 4.42e-03 | 3.87e-02 | 43 |
| GO:0022411111 | Esophagus | ESCC | cellular component disassembly | 305/8552 | 443/18723 | 1.94e-23 | 4.57e-21 | 305 |
| GO:0006091110 | Esophagus | ESCC | generation of precursor metabolites and energy | 331/8552 | 490/18723 | 3.86e-23 | 8.45e-21 | 331 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0541839 | Esophagus | HGIN | Fluid shear stress and atherosclerosis | 42/1383 | 139/8465 | 2.92e-05 | 3.81e-04 | 3.02e-04 | 42 |
| hsa0421828 | Esophagus | HGIN | Cellular senescence | 42/1383 | 156/8465 | 4.94e-04 | 5.03e-03 | 4.00e-03 | 42 |
| hsa05418115 | Esophagus | HGIN | Fluid shear stress and atherosclerosis | 42/1383 | 139/8465 | 2.92e-05 | 3.81e-04 | 3.02e-04 | 42 |
| hsa04218111 | Esophagus | HGIN | Cellular senescence | 42/1383 | 156/8465 | 4.94e-04 | 5.03e-03 | 4.00e-03 | 42 |
| hsa05418211 | Esophagus | ESCC | Fluid shear stress and atherosclerosis | 109/4205 | 139/8465 | 2.00e-12 | 3.72e-11 | 1.90e-11 | 109 |
| hsa0421829 | Esophagus | ESCC | Cellular senescence | 119/4205 | 156/8465 | 5.89e-12 | 9.40e-11 | 4.81e-11 | 119 |
| hsa05418310 | Esophagus | ESCC | Fluid shear stress and atherosclerosis | 109/4205 | 139/8465 | 2.00e-12 | 3.72e-11 | 1.90e-11 | 109 |
| hsa0421838 | Esophagus | ESCC | Cellular senescence | 119/4205 | 156/8465 | 5.89e-12 | 9.40e-11 | 4.81e-11 | 119 |
| hsa0421820 | Oral cavity | OSCC | Cellular senescence | 112/3704 | 156/8465 | 8.04e-13 | 1.42e-11 | 7.21e-12 | 112 |
| hsa0541830 | Oral cavity | OSCC | Fluid shear stress and atherosclerosis | 92/3704 | 139/8465 | 6.51e-08 | 4.84e-07 | 2.47e-07 | 92 |
| hsa04218110 | Oral cavity | OSCC | Cellular senescence | 112/3704 | 156/8465 | 8.04e-13 | 1.42e-11 | 7.21e-12 | 112 |
| hsa05418114 | Oral cavity | OSCC | Fluid shear stress and atherosclerosis | 92/3704 | 139/8465 | 6.51e-08 | 4.84e-07 | 2.47e-07 | 92 |
| hsa05418210 | Oral cavity | LP | Fluid shear stress and atherosclerosis | 65/2418 | 139/8465 | 3.42e-06 | 3.26e-05 | 2.10e-05 | 65 |
| hsa0421827 | Oral cavity | LP | Cellular senescence | 71/2418 | 156/8465 | 4.17e-06 | 3.75e-05 | 2.42e-05 | 71 |
| hsa0541838 | Oral cavity | LP | Fluid shear stress and atherosclerosis | 65/2418 | 139/8465 | 3.42e-06 | 3.26e-05 | 2.10e-05 | 65 |
| hsa0421837 | Oral cavity | LP | Cellular senescence | 71/2418 | 156/8465 | 4.17e-06 | 3.75e-05 | 2.42e-05 | 71 |
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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 |
| TRPV4 | SNV | Missense_Mutation | rs140535889 | c.1729N>A | p.Val577Met | p.V577M | Q9HBA0 | protein_coding | deleterious(0.03) | probably_damaging(1) | TCGA-AN-A0FT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| TRPV4 | SNV | Missense_Mutation | novel | c.2273C>T | p.Ser758Phe | p.S758F | Q9HBA0 | protein_coding | deleterious(0) | possibly_damaging(0.736) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
| TRPV4 | SNV | Missense_Mutation | c.2491N>A | p.Glu831Lys | p.E831K | Q9HBA0 | protein_coding | tolerated(0.07) | possibly_damaging(0.76) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD | |
| TRPV4 | SNV | Missense_Mutation | c.779A>G | p.Gln260Arg | p.Q260R | Q9HBA0 | protein_coding | tolerated(0.21) | benign(0.062) | TCGA-EA-A3HQ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| TRPV4 | SNV | Missense_Mutation | c.300N>T | p.Lys100Asn | p.K100N | Q9HBA0 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.991) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| TRPV4 | SNV | Missense_Mutation | rs769445973 | c.622N>A | p.Asp208Asn | p.D208N | Q9HBA0 | protein_coding | tolerated(0.09) | benign(0.003) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| TRPV4 | SNV | Missense_Mutation | c.693N>A | p.Phe231Leu | p.F231L | Q9HBA0 | protein_coding | deleterious(0.02) | probably_damaging(0.987) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
| TRPV4 | SNV | Missense_Mutation | novel | c.227N>A | p.Arg76His | p.R76H | Q9HBA0 | protein_coding | deleterious(0.01) | possibly_damaging(0.791) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
| TRPV4 | SNV | Missense_Mutation | rs758280554 | c.1465G>A | p.Ala489Thr | p.A489T | Q9HBA0 | protein_coding | deleterious(0) | possibly_damaging(0.859) | TCGA-AA-A029-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| TRPV4 | SNV | Missense_Mutation | rs374197231 | c.1184C>T | p.Thr395Met | p.T395M | Q9HBA0 | protein_coding | tolerated(0.11) | possibly_damaging(0.475) | TCGA-AD-6964-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | folfox | PD |
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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 |
| 59341 | TRPV4 | ION CHANNEL, CELL SURFACE, DRUGGABLE GENOME | GSK2798745 | GSK2798745 | ||
| 59341 | TRPV4 | ION CHANNEL, CELL SURFACE, DRUGGABLE GENOME | activator | 135650820 | ||
| 59341 | TRPV4 | ION CHANNEL, CELL SURFACE, DRUGGABLE GENOME | blocker | 381744985 | ||
| 59341 | TRPV4 | ION CHANNEL, CELL SURFACE, DRUGGABLE GENOME | antagonist | CHEMBL3707225 | GSK2798745 | |
| 59341 | TRPV4 | ION CHANNEL, CELL SURFACE, DRUGGABLE GENOME | activator | 53801079 | ||
| 59341 | TRPV4 | ION CHANNEL, CELL SURFACE, DRUGGABLE GENOME | blocker | 135652740 | ||
| 59341 | TRPV4 | ION CHANNEL, CELL SURFACE, DRUGGABLE GENOME | blocker | 178103079 | ||
| 59341 | TRPV4 | ION CHANNEL, CELL SURFACE, DRUGGABLE GENOME | phorbol 12-myristate 13-acetate | |||
| 59341 | TRPV4 | ION CHANNEL, CELL SURFACE, DRUGGABLE GENOME | activator | 178101022 | ||
| 59341 | TRPV4 | ION CHANNEL, CELL SURFACE, DRUGGABLE GENOME | NSC-677436 | CHEMBL120580 | 16998480 |
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