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Gene: PLEKHH2 |
Gene summary for PLEKHH2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | PLEKHH2 | Gene ID | 130271 |
| Gene name | pleckstrin homology, MyTH4 and FERM domain containing H2 | |
| Gene Alias | PLEKHH1L | |
| Cytomap | 2p21 | |
| Gene Type | protein-coding | GO ID | GO:0006996 | UniProtAcc | Q8IVE3 |
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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 |
| 130271 | PLEKHH2 | RNA-P6T2-P6T2-1 | Human | Lung | IAC | 1.78e-09 | 4.21e-01 | -0.0166 |
| 130271 | PLEKHH2 | RNA-P6T2-P6T2-2 | Human | Lung | IAC | 1.20e-15 | 5.15e-01 | -0.0132 |
| 130271 | PLEKHH2 | RNA-P6T2-P6T2-3 | Human | Lung | IAC | 4.57e-15 | 5.27e-01 | -0.013 |
| 130271 | PLEKHH2 | RNA-P6T2-P6T2-4 | Human | Lung | IAC | 1.51e-09 | 4.48e-01 | -0.0121 |
| 130271 | PLEKHH2 | PTC01 | Human | Thyroid | PTC | 6.12e-03 | 2.66e-02 | 0.1899 |
| 130271 | PLEKHH2 | PTC05 | Human | Thyroid | PTC | 6.49e-10 | 2.35e-01 | 0.2065 |
| 130271 | PLEKHH2 | PTC06 | Human | Thyroid | PTC | 4.30e-08 | 9.00e-02 | 0.2057 |
| 130271 | PLEKHH2 | PTC07 | Human | Thyroid | PTC | 2.08e-03 | 9.34e-02 | 0.2044 |
| 130271 | PLEKHH2 | ATC09 | Human | Thyroid | ATC | 3.91e-04 | 1.34e-01 | 0.2871 |
| 130271 | PLEKHH2 | ATC12 | Human | Thyroid | ATC | 5.53e-03 | 1.45e-01 | 0.34 |
| 130271 | PLEKHH2 | ATC13 | Human | Thyroid | ATC | 2.13e-42 | 7.74e-01 | 0.34 |
| 130271 | PLEKHH2 | ATC1 | Human | Thyroid | ATC | 8.70e-04 | 1.47e-01 | 0.2878 |
| 130271 | PLEKHH2 | ATC4 | Human | Thyroid | ATC | 1.51e-06 | 1.90e-01 | 0.34 |
| 130271 | PLEKHH2 | ATC5 | Human | Thyroid | ATC | 1.78e-46 | 8.16e-01 | 0.34 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid 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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:00070158 | Lung | IAC | actin filament organization | 92/2061 | 442/18723 | 1.01e-09 | 1.93e-07 | 92 |
| GO:00329708 | Lung | IAC | regulation of actin filament-based process | 77/2061 | 397/18723 | 4.85e-07 | 3.10e-05 | 77 |
| GO:00329568 | Lung | IAC | regulation of actin cytoskeleton organization | 70/2061 | 358/18723 | 1.17e-06 | 6.20e-05 | 70 |
| GO:00106398 | Lung | IAC | negative regulation of organelle organization | 68/2061 | 348/18723 | 1.69e-06 | 8.24e-05 | 68 |
| GO:19029038 | Lung | IAC | regulation of supramolecular fiber organization | 73/2061 | 383/18723 | 1.87e-06 | 8.87e-05 | 73 |
| GO:00514947 | Lung | IAC | negative regulation of cytoskeleton organization | 38/2061 | 163/18723 | 5.35e-06 | 2.08e-04 | 38 |
| GO:01100538 | Lung | IAC | regulation of actin filament organization | 54/2061 | 278/18723 | 2.27e-05 | 6.28e-04 | 54 |
| GO:19029047 | Lung | IAC | negative regulation of supramolecular fiber organization | 37/2061 | 167/18723 | 2.38e-05 | 6.50e-04 | 37 |
| GO:00325357 | Lung | IAC | regulation of cellular component size | 65/2061 | 383/18723 | 2.56e-04 | 4.26e-03 | 65 |
| GO:00432422 | Lung | IAC | negative regulation of protein-containing complex disassembly | 19/2061 | 82/18723 | 1.23e-03 | 1.42e-02 | 19 |
| GO:00224118 | Lung | IAC | cellular component disassembly | 68/2061 | 443/18723 | 2.89e-03 | 2.60e-02 | 68 |
| GO:00081548 | Lung | IAC | actin polymerization or depolymerization | 37/2061 | 218/18723 | 4.96e-03 | 3.79e-02 | 37 |
| GO:0022411113 | Thyroid | PTC | cellular component disassembly | 232/5968 | 443/18723 | 1.36e-19 | 1.75e-17 | 232 |
| GO:1902903113 | Thyroid | PTC | regulation of supramolecular fiber organization | 202/5968 | 383/18723 | 1.16e-17 | 1.15e-15 | 202 |
| GO:0007015112 | Thyroid | PTC | actin filament organization | 225/5968 | 442/18723 | 3.76e-17 | 3.44e-15 | 225 |
| GO:0032956113 | Thyroid | PTC | regulation of actin cytoskeleton organization | 182/5968 | 358/18723 | 4.64e-14 | 2.79e-12 | 182 |
| GO:0032970113 | Thyroid | PTC | regulation of actin filament-based process | 197/5968 | 397/18723 | 8.91e-14 | 4.89e-12 | 197 |
| GO:0110053112 | Thyroid | PTC | regulation of actin filament organization | 146/5968 | 278/18723 | 5.87e-13 | 2.85e-11 | 146 |
| GO:000815426 | Thyroid | PTC | actin polymerization or depolymerization | 117/5968 | 218/18723 | 1.85e-11 | 7.21e-10 | 117 |
| GO:0032535112 | Thyroid | PTC | regulation of cellular component size | 181/5968 | 383/18723 | 1.70e-10 | 5.64e-09 | 181 |
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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 |
| PLEKHH2 | SNV | Missense_Mutation | novel | c.1730C>G | p.Ser577Cys | p.S577C | Q8IVE3 | protein_coding | tolerated(0.08) | possibly_damaging(0.524) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
| PLEKHH2 | SNV | Missense_Mutation | novel | c.3665C>T | p.Ser1222Leu | p.S1222L | Q8IVE3 | protein_coding | deleterious(0.01) | possibly_damaging(0.829) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
| PLEKHH2 | SNV | Missense_Mutation | rs777673724 | c.982G>A | p.Ala328Thr | p.A328T | Q8IVE3 | protein_coding | deleterious_low_confidence(0.05) | benign(0.018) | TCGA-A8-A09W-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| PLEKHH2 | SNV | Missense_Mutation | novel | c.1283N>A | p.Thr428Lys | p.T428K | Q8IVE3 | protein_coding | tolerated(0.89) | benign(0.01) | TCGA-AC-A3YI-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cytoxan | CR |
| PLEKHH2 | SNV | Missense_Mutation | c.3140N>T | p.Ala1047Val | p.A1047V | Q8IVE3 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AN-A0AM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| PLEKHH2 | SNV | Missense_Mutation | c.3545N>T | p.Gly1182Val | p.G1182V | Q8IVE3 | protein_coding | deleterious(0.02) | probably_damaging(0.98) | TCGA-AR-A24X-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |
| PLEKHH2 | SNV | Missense_Mutation | novel | c.3515C>T | p.Ser1172Phe | p.S1172F | Q8IVE3 | protein_coding | deleterious(0.01) | possibly_damaging(0.602) | TCGA-AR-A2LE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | PD |
| PLEKHH2 | SNV | Missense_Mutation | c.2070N>T | p.Lys690Asn | p.K690N | Q8IVE3 | protein_coding | deleterious(0.01) | probably_damaging(0.917) | TCGA-BH-A0BZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | CR | |
| PLEKHH2 | SNV | Missense_Mutation | c.2318N>T | p.His773Leu | p.H773L | Q8IVE3 | protein_coding | deleterious(0.01) | benign(0.045) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| PLEKHH2 | SNV | Missense_Mutation | c.4400N>A | p.Thr1467Asn | p.T1467N | Q8IVE3 | protein_coding | tolerated(0.23) | benign(0.01) | TCGA-E2-A1IH-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | aromasin | 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 |
| 130271 | PLEKHH2 | NA | atenolol | ATENOLOL | 27670767 | |
| 130271 | PLEKHH2 | NA | verapamil | VERAPAMIL | 27670767 |
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