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Gene: PPL |
Gene summary for PPL |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | PPL | Gene ID | 5493 |
| Gene name | periplakin | |
| Gene Alias | PPL | |
| Cytomap | 16p13.3 | |
| Gene Type | protein-coding | GO ID | GO:0006950 | UniProtAcc | O60437 |
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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 |
| 5493 | PPL | CA_HPV_1 | Human | Cervix | CC | 2.43e-05 | -2.09e-01 | 0.0264 |
| 5493 | PPL | CCI_2 | Human | Cervix | CC | 3.54e-02 | 5.45e-01 | 0.5249 |
| 5493 | PPL | CCI_3 | Human | Cervix | CC | 2.11e-04 | 6.31e-01 | 0.516 |
| 5493 | PPL | H2 | Human | Cervix | HSIL_HPV | 1.77e-12 | 5.69e-01 | 0.0632 |
| 5493 | PPL | L1 | Human | Cervix | CC | 4.00e-05 | 4.56e-01 | 0.0802 |
| 5493 | PPL | LZE2T | Human | Esophagus | ESCC | 4.41e-05 | 6.97e-01 | 0.082 |
| 5493 | PPL | LZE4T | Human | Esophagus | ESCC | 9.61e-06 | 7.44e-02 | 0.0811 |
| 5493 | PPL | LZE8T | Human | Esophagus | ESCC | 1.84e-04 | 1.71e-01 | 0.067 |
| 5493 | PPL | LZE20T | Human | Esophagus | ESCC | 1.36e-06 | 1.94e-01 | 0.0662 |
| 5493 | PPL | LZE21D1 | Human | Esophagus | HGIN | 3.14e-03 | 2.29e-01 | 0.0632 |
| 5493 | PPL | LZE22T | Human | Esophagus | ESCC | 1.40e-02 | 7.15e-01 | 0.068 |
| 5493 | PPL | LZE24T | Human | Esophagus | ESCC | 1.13e-12 | 7.92e-01 | 0.0596 |
| 5493 | PPL | LZE21T | Human | Esophagus | ESCC | 3.77e-03 | 6.88e-01 | 0.0655 |
| 5493 | PPL | P1T-E | Human | Esophagus | ESCC | 4.28e-14 | 1.08e+00 | 0.0875 |
| 5493 | PPL | P2T-E | Human | Esophagus | ESCC | 2.03e-05 | 2.48e-01 | 0.1177 |
| 5493 | PPL | P4T-E | Human | Esophagus | ESCC | 2.06e-08 | 2.02e-01 | 0.1323 |
| 5493 | PPL | P5T-E | Human | Esophagus | ESCC | 1.58e-03 | -5.00e-02 | 0.1327 |
| 5493 | PPL | P8T-E | Human | Esophagus | ESCC | 2.07e-51 | 1.08e+00 | 0.0889 |
| 5493 | PPL | P9T-E | Human | Esophagus | ESCC | 1.06e-03 | 4.42e-02 | 0.1131 |
| 5493 | PPL | P10T-E | Human | Esophagus | ESCC | 1.10e-05 | 7.04e-02 | 0.116 |
| Page: 1 2 3 4 5 6 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| 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 | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| 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:000647011 | Liver | Cirrhotic | protein dephosphorylation | 96/4634 | 281/18723 | 2.32e-04 | 2.11e-03 | 96 |
| GO:00107611 | Liver | Cirrhotic | fibroblast migration | 23/4634 | 47/18723 | 2.84e-04 | 2.51e-03 | 23 |
| GO:000717911 | Liver | Cirrhotic | transforming growth factor beta receptor signaling pathway | 71/4634 | 198/18723 | 3.02e-04 | 2.65e-03 | 71 |
| GO:1901990 | Liver | Cirrhotic | regulation of mitotic cell cycle phase transition | 100/4634 | 299/18723 | 4.13e-04 | 3.41e-03 | 100 |
| GO:003010011 | Liver | Cirrhotic | regulation of endocytosis | 74/4634 | 211/18723 | 4.86e-04 | 3.90e-03 | 74 |
| GO:00713566 | Liver | Cirrhotic | cellular response to tumor necrosis factor | 79/4634 | 229/18723 | 5.68e-04 | 4.45e-03 | 79 |
| GO:19016171 | Liver | Cirrhotic | organic hydroxy compound biosynthetic process | 81/4634 | 237/18723 | 6.73e-04 | 5.06e-03 | 81 |
| GO:000828611 | Liver | Cirrhotic | insulin receptor signaling pathway | 44/4634 | 116/18723 | 1.09e-03 | 7.59e-03 | 44 |
| GO:001631111 | Liver | Cirrhotic | dephosphorylation | 130/4634 | 417/18723 | 1.58e-03 | 1.03e-02 | 130 |
| GO:2000045 | Liver | Cirrhotic | regulation of G1/S transition of mitotic cell cycle | 51/4634 | 142/18723 | 1.91e-03 | 1.20e-02 | 51 |
| GO:00064656 | Liver | Cirrhotic | signal peptide processing | 9/4634 | 14/18723 | 1.99e-03 | 1.23e-02 | 9 |
| GO:00000821 | Liver | Cirrhotic | G1/S transition of mitotic cell cycle | 72/4634 | 214/18723 | 2.07e-03 | 1.28e-02 | 72 |
| GO:004580711 | Liver | Cirrhotic | positive regulation of endocytosis | 38/4634 | 100/18723 | 2.22e-03 | 1.35e-02 | 38 |
| GO:000166712 | Liver | Cirrhotic | ameboidal-type cell migration | 145/4634 | 475/18723 | 2.23e-03 | 1.36e-02 | 145 |
| GO:000717811 | Liver | Cirrhotic | transmembrane receptor protein serine/threonine kinase signaling pathway | 111/4634 | 355/18723 | 2.98e-03 | 1.70e-02 | 111 |
| GO:00510514 | Liver | Cirrhotic | negative regulation of transport | 141/4634 | 470/18723 | 5.06e-03 | 2.62e-02 | 141 |
| GO:00511706 | Liver | Cirrhotic | import into nucleus | 54/4634 | 159/18723 | 5.59e-03 | 2.83e-02 | 54 |
| GO:00028311 | Liver | Cirrhotic | regulation of response to biotic stimulus | 101/4634 | 327/18723 | 6.58e-03 | 3.25e-02 | 101 |
| GO:00448431 | Liver | Cirrhotic | cell cycle G1/S phase transition | 77/4634 | 241/18723 | 6.68e-03 | 3.30e-02 | 77 |
| GO:00353037 | Liver | Cirrhotic | regulation of dephosphorylation | 44/4634 | 128/18723 | 9.13e-03 | 4.21e-02 | 44 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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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 |
| Page: 1 |
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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. |
| Page: 1 |
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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 |
| PPL | SNV | Missense_Mutation | novel | c.3422N>A | p.Ala1141Asp | p.A1141D | O60437 | protein_coding | tolerated(0.27) | benign(0.075) | TCGA-A2-A0EX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
| PPL | SNV | Missense_Mutation | rs371832541 | c.2354N>G | p.Gln785Arg | p.Q785R | O60437 | protein_coding | tolerated(0.22) | benign(0.045) | TCGA-A8-A06T-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
| PPL | SNV | Missense_Mutation | novel | c.1802T>G | p.Leu601Arg | p.L601R | O60437 | protein_coding | tolerated(0.52) | benign(0.009) | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| PPL | SNV | Missense_Mutation | novel | c.1801C>A | p.Leu601Met | p.L601M | O60437 | protein_coding | tolerated(0.1) | benign(0.039) | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| PPL | SNV | Missense_Mutation | rs767752605 | c.470N>C | p.Asp157Ala | p.D157A | O60437 | protein_coding | deleterious(0.04) | benign(0.356) | TCGA-AR-A1AY-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unspecific | Doxorubicin | SD |
| PPL | SNV | Missense_Mutation | novel | c.3992N>T | p.Ser1331Phe | p.S1331F | O60437 | protein_coding | deleterious(0.04) | benign(0.223) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| PPL | SNV | Missense_Mutation | novel | c.2977N>A | p.Val993Met | p.V993M | O60437 | protein_coding | tolerated(0.09) | possibly_damaging(0.483) | TCGA-C8-A8HQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| PPL | SNV | Missense_Mutation | c.2404G>C | p.Glu802Gln | p.E802Q | O60437 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD | |
| PPL | SNV | Missense_Mutation | c.1774N>A | p.Asp592Asn | p.D592N | O60437 | protein_coding | tolerated(0.73) | benign(0.005) | TCGA-D8-A1Y0-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cyclophosphamide+methotrexatum+fluorouracillum | SD | |
| PPL | SNV | Missense_Mutation | rs370359256 | c.4894N>A | p.Glu1632Lys | p.E1632K | O60437 | protein_coding | deleterious(0.02) | probably_damaging(0.994) | TCGA-E9-A1RA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 |
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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 |
| Page: 1 |
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