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Gene: PDZD2 |
Gene summary for PDZD2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | PDZD2 | Gene ID | 23037 |
| Gene name | PDZ domain containing 2 | |
| Gene Alias | AIPC | |
| Cytomap | 5p13.3 | |
| Gene Type | protein-coding | GO ID | GO:0007155 | UniProtAcc | A0A024RE15 |
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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 |
| 23037 | PDZD2 | AEH-subject5 | Human | Endometrium | AEH | 1.89e-30 | 6.04e-01 | -0.2953 |
| 23037 | PDZD2 | EEC-subject4 | Human | Endometrium | EEC | 3.00e-06 | 2.79e-01 | -0.2571 |
| 23037 | PDZD2 | LZE5T | Human | Esophagus | ESCC | 1.32e-06 | 4.91e-01 | 0.0514 |
| 23037 | PDZD2 | LZE20T | Human | Esophagus | ESCC | 3.02e-02 | 1.63e-01 | 0.0662 |
| 23037 | PDZD2 | LZE22T | Human | Esophagus | ESCC | 6.40e-04 | 3.12e-01 | 0.068 |
| 23037 | PDZD2 | P1T-E | Human | Esophagus | ESCC | 5.68e-05 | 5.76e-01 | 0.0875 |
| 23037 | PDZD2 | P2T-E | Human | Esophagus | ESCC | 3.22e-18 | 3.11e-01 | 0.1177 |
| 23037 | PDZD2 | P4T-E | Human | Esophagus | ESCC | 1.91e-05 | 1.86e-01 | 0.1323 |
| 23037 | PDZD2 | P5T-E | Human | Esophagus | ESCC | 6.38e-05 | 1.39e-01 | 0.1327 |
| 23037 | PDZD2 | P8T-E | Human | Esophagus | ESCC | 5.21e-11 | 3.01e-01 | 0.0889 |
| 23037 | PDZD2 | P10T-E | Human | Esophagus | ESCC | 1.11e-27 | 5.29e-01 | 0.116 |
| 23037 | PDZD2 | P12T-E | Human | Esophagus | ESCC | 2.61e-05 | 1.62e-01 | 0.1122 |
| 23037 | PDZD2 | P23T-E | Human | Esophagus | ESCC | 2.96e-07 | 3.00e-01 | 0.108 |
| 23037 | PDZD2 | P24T-E | Human | Esophagus | ESCC | 1.05e-06 | 1.84e-01 | 0.1287 |
| 23037 | PDZD2 | P27T-E | Human | Esophagus | ESCC | 7.54e-12 | 2.43e-01 | 0.1055 |
| 23037 | PDZD2 | P31T-E | Human | Esophagus | ESCC | 2.65e-12 | 3.35e-01 | 0.1251 |
| 23037 | PDZD2 | P36T-E | Human | Esophagus | ESCC | 1.23e-03 | 2.42e-01 | 0.1187 |
| 23037 | PDZD2 | P39T-E | Human | Esophagus | ESCC | 8.33e-06 | 2.76e-01 | 0.0894 |
| 23037 | PDZD2 | P52T-E | Human | Esophagus | ESCC | 4.74e-09 | 2.51e-01 | 0.1555 |
| 23037 | PDZD2 | P54T-E | Human | Esophagus | ESCC | 7.79e-03 | 1.61e-01 | 0.0975 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| 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). |
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| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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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 |
| PDZD2 | SNV | Missense_Mutation | rs752110304 | c.2419C>T | p.Arg807Cys | p.R807C | O15018 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| PDZD2 | SNV | Missense_Mutation | novel | c.5375N>C | p.Met1792Thr | p.M1792T | O15018 | protein_coding | tolerated(0.68) | benign(0) | TCGA-AG-A01J-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| PDZD2 | SNV | Missense_Mutation | rs556048029 | c.2321N>A | p.Arg774His | p.R774H | O15018 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AG-A02N-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Chemotherapy | folinic | CR |
| PDZD2 | SNV | Missense_Mutation | c.2900N>T | p.Ala967Val | p.A967V | O15018 | protein_coding | deleterious(0.01) | benign(0.154) | TCGA-AG-A02N-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Chemotherapy | folinic | CR | |
| PDZD2 | SNV | Missense_Mutation | c.2434N>T | p.Arg812Trp | p.R812W | O15018 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-CI-6623-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| PDZD2 | SNV | Missense_Mutation | c.1713N>T | p.Gln571His | p.Q571H | O15018 | protein_coding | tolerated(0.18) | benign(0.011) | TCGA-EI-6507-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| PDZD2 | SNV | Missense_Mutation | c.2113N>T | p.Gly705Cys | p.G705C | O15018 | protein_coding | deleterious(0) | probably_damaging(0.962) | TCGA-EI-6507-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| PDZD2 | SNV | Missense_Mutation | rs749478209 | c.1747N>A | p.Val583Ile | p.V583I | O15018 | protein_coding | tolerated(0.87) | benign(0.053) | TCGA-EI-6882-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| PDZD2 | SNV | Missense_Mutation | novel | c.284N>G | p.Asp95Gly | p.D95G | O15018 | protein_coding | deleterious(0) | possibly_damaging(0.896) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| PDZD2 | SNV | Missense_Mutation | novel | c.4151N>A | p.Ser1384Tyr | p.S1384Y | O15018 | protein_coding | tolerated(0.34) | benign(0.246) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | 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 |
| Page: 1 |
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