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Gene: CDC42EP1 |
Gene summary for CDC42EP1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CDC42EP1 | Gene ID | 11135 |
| Gene name | CDC42 effector protein 1 | |
| Gene Alias | BORG5 | |
| Cytomap | 22q13.1 | |
| Gene Type | protein-coding | GO ID | GO:0000902 | UniProtAcc | Q00587 |
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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 |
| 11135 | CDC42EP1 | GSM4909285 | Human | Breast | IDC | 5.16e-04 | -2.28e-01 | 0.21 |
| 11135 | CDC42EP1 | GSM4909286 | Human | Breast | IDC | 1.48e-07 | -2.70e-01 | 0.1081 |
| 11135 | CDC42EP1 | GSM4909293 | Human | Breast | IDC | 4.57e-13 | -3.08e-01 | 0.1581 |
| 11135 | CDC42EP1 | GSM4909294 | Human | Breast | IDC | 2.45e-11 | -3.13e-01 | 0.2022 |
| 11135 | CDC42EP1 | GSM4909296 | Human | Breast | IDC | 3.71e-17 | -3.49e-01 | 0.1524 |
| 11135 | CDC42EP1 | GSM4909297 | Human | Breast | IDC | 3.48e-12 | -2.64e-01 | 0.1517 |
| 11135 | CDC42EP1 | GSM4909298 | Human | Breast | IDC | 4.57e-03 | -2.24e-01 | 0.1551 |
| 11135 | CDC42EP1 | GSM4909301 | Human | Breast | IDC | 5.65e-26 | -4.01e-01 | 0.1577 |
| 11135 | CDC42EP1 | GSM4909302 | Human | Breast | IDC | 1.14e-09 | -2.96e-01 | 0.1545 |
| 11135 | CDC42EP1 | GSM4909304 | Human | Breast | IDC | 5.34e-17 | -3.74e-01 | 0.1636 |
| 11135 | CDC42EP1 | GSM4909307 | Human | Breast | IDC | 3.71e-11 | -2.94e-01 | 0.1569 |
| 11135 | CDC42EP1 | GSM4909308 | Human | Breast | IDC | 4.14e-09 | -3.19e-01 | 0.158 |
| 11135 | CDC42EP1 | GSM4909311 | Human | Breast | IDC | 1.35e-22 | -3.39e-01 | 0.1534 |
| 11135 | CDC42EP1 | GSM4909312 | Human | Breast | IDC | 9.56e-10 | -2.49e-01 | 0.1552 |
| 11135 | CDC42EP1 | GSM4909315 | Human | Breast | IDC | 2.07e-02 | -2.37e-01 | 0.21 |
| 11135 | CDC42EP1 | GSM4909318 | Human | Breast | IDC | 2.29e-04 | -2.11e-01 | 0.2031 |
| 11135 | CDC42EP1 | GSM4909319 | Human | Breast | IDC | 2.72e-27 | -3.65e-01 | 0.1563 |
| 11135 | CDC42EP1 | GSM4909320 | Human | Breast | IDC | 6.45e-09 | -4.01e-01 | 0.1575 |
| 11135 | CDC42EP1 | GSM4909321 | Human | Breast | IDC | 2.45e-16 | -3.28e-01 | 0.1559 |
| 11135 | CDC42EP1 | brca3 | Human | Breast | Precancer | 1.40e-19 | 5.82e-01 | -0.0263 |
| Page: 1 2 3 4 5 6 7 8 9 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| 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). |
| 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:00308327 | Liver | Cirrhotic | regulation of actin filament length | 74/4634 | 189/18723 | 7.83e-06 | 1.18e-04 | 74 |
| GO:000726511 | Liver | Cirrhotic | Ras protein signal transduction | 119/4634 | 337/18723 | 8.16e-06 | 1.22e-04 | 119 |
| GO:000726611 | Liver | Cirrhotic | Rho protein signal transduction | 53/4634 | 137/18723 | 2.05e-04 | 1.89e-03 | 53 |
| GO:00308387 | Liver | Cirrhotic | positive regulation of actin filament polymerization | 40/4634 | 99/18723 | 4.21e-04 | 3.46e-03 | 40 |
| GO:01200326 | Liver | Cirrhotic | regulation of plasma membrane bounded cell projection assembly | 63/4634 | 186/18723 | 3.16e-03 | 1.78e-02 | 63 |
| GO:00604915 | Liver | Cirrhotic | regulation of cell projection assembly | 63/4634 | 188/18723 | 4.17e-03 | 2.22e-02 | 63 |
| GO:004325422 | Liver | HCC | regulation of protein-containing complex assembly | 264/7958 | 428/18723 | 5.47e-16 | 4.39e-14 | 264 |
| GO:005125822 | Liver | HCC | protein polymerization | 182/7958 | 297/18723 | 4.17e-11 | 1.58e-09 | 182 |
| GO:002260422 | Liver | HCC | regulation of cell morphogenesis | 188/7958 | 309/18723 | 4.84e-11 | 1.82e-09 | 188 |
| GO:003133412 | Liver | HCC | positive regulation of protein-containing complex assembly | 150/7958 | 237/18723 | 7.35e-11 | 2.63e-09 | 150 |
| GO:190290322 | Liver | HCC | regulation of supramolecular fiber organization | 224/7958 | 383/18723 | 1.54e-10 | 5.33e-09 | 224 |
| GO:000701522 | Liver | HCC | actin filament organization | 252/7958 | 442/18723 | 3.83e-10 | 1.25e-08 | 252 |
| GO:190290522 | Liver | HCC | positive regulation of supramolecular fiber organization | 131/7958 | 209/18723 | 2.85e-09 | 7.69e-08 | 131 |
| GO:005149522 | Liver | HCC | positive regulation of cytoskeleton organization | 138/7958 | 226/18723 | 1.26e-08 | 3.12e-07 | 138 |
| GO:003253522 | Liver | HCC | regulation of cellular component size | 217/7958 | 383/18723 | 1.28e-08 | 3.14e-07 | 217 |
| GO:003227122 | Liver | HCC | regulation of protein polymerization | 141/7958 | 233/18723 | 2.00e-08 | 4.72e-07 | 141 |
| GO:003297022 | Liver | HCC | regulation of actin filament-based process | 222/7958 | 397/18723 | 3.81e-08 | 8.30e-07 | 222 |
| GO:003227322 | Liver | HCC | positive regulation of protein polymerization | 90/7958 | 138/18723 | 5.73e-08 | 1.21e-06 | 90 |
| GO:003295622 | Liver | HCC | regulation of actin cytoskeleton organization | 202/7958 | 358/18723 | 6.18e-08 | 1.29e-06 | 202 |
| GO:000815422 | Liver | HCC | actin polymerization or depolymerization | 130/7958 | 218/18723 | 2.31e-07 | 4.14e-06 | 130 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 |
| 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 |
| CDC42EP1 | SNV | Missense_Mutation | novel | c.440N>G | p.Ser147Cys | p.S147C | Q00587 | protein_coding | tolerated(0.18) | possibly_damaging(0.628) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
| CDC42EP1 | SNV | Missense_Mutation | novel | c.388N>C | p.Tyr130His | p.Y130H | Q00587 | protein_coding | tolerated(0.09) | possibly_damaging(0.903) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
| CDC42EP1 | insertion | Frame_Shift_Ins | novel | c.558_559insCTACAGGC | p.Arg188GlnfsTer27 | p.R188Qfs*27 | Q00587 | protein_coding | TCGA-A2-A0EV-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| CDC42EP1 | SNV | Missense_Mutation | novel | c.11N>A | p.Pro4His | p.P4H | Q00587 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.888) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| CDC42EP1 | SNV | Missense_Mutation | rs368492182 | c.56N>T | p.Ser19Leu | p.S19L | Q00587 | protein_coding | deleterious(0.05) | benign(0.129) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| CDC42EP1 | SNV | Missense_Mutation | novel | c.311C>T | p.Ala104Val | p.A104V | Q00587 | protein_coding | tolerated(0.18) | benign(0.084) | TCGA-A6-6781-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | SD |
| CDC42EP1 | SNV | Missense_Mutation | c.1094N>A | p.Ser365Asn | p.S365N | Q00587 | protein_coding | deleterious_low_confidence(0.05) | benign(0.001) | TCGA-AZ-6601-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
| CDC42EP1 | insertion | Frame_Shift_Ins | rs774440829 | c.282_283insC | p.Arg97ProfsTer78 | p.R97Pfs*78 | Q00587 | protein_coding | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| CDC42EP1 | insertion | Frame_Shift_Ins | rs774440829 | c.289dupC | p.Arg97ProfsTer78 | p.R97Pfs*78 | Q00587 | protein_coding | TCGA-G4-6302-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| CDC42EP1 | SNV | Missense_Mutation | rs772130894 | c.790N>A | p.Ala264Thr | p.A264T | Q00587 | protein_coding | tolerated(0.71) | benign(0) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 |
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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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