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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:00432549 | Breast | Precancer | regulation of protein-containing complex assembly | 50/1080 | 428/18723 | 1.63e-06 | 5.97e-05 | 50 |
| GO:00313349 | Breast | Precancer | positive regulation of protein-containing complex assembly | 33/1080 | 237/18723 | 2.39e-06 | 8.21e-05 | 33 |
| GO:19029059 | Breast | Precancer | positive regulation of supramolecular fiber organization | 28/1080 | 209/18723 | 2.79e-05 | 6.28e-04 | 28 |
| GO:19029039 | Breast | Precancer | regulation of supramolecular fiber organization | 42/1080 | 383/18723 | 4.92e-05 | 1.04e-03 | 42 |
| GO:00329709 | Breast | Precancer | regulation of actin filament-based process | 42/1080 | 397/18723 | 1.11e-04 | 2.01e-03 | 42 |
| GO:00514959 | Breast | Precancer | positive regulation of cytoskeleton organization | 28/1080 | 226/18723 | 1.13e-04 | 2.04e-03 | 28 |
| GO:00070159 | Breast | Precancer | actin filament organization | 44/1080 | 442/18723 | 3.02e-04 | 4.35e-03 | 44 |
| GO:00329569 | Breast | Precancer | regulation of actin cytoskeleton organization | 36/1080 | 358/18723 | 8.56e-04 | 9.88e-03 | 36 |
| GO:00322739 | Breast | Precancer | positive regulation of protein polymerization | 18/1080 | 138/18723 | 9.85e-04 | 1.11e-02 | 18 |
| GO:01100539 | Breast | Precancer | regulation of actin filament organization | 29/1080 | 278/18723 | 1.50e-03 | 1.55e-02 | 29 |
| GO:00226049 | Breast | Precancer | regulation of cell morphogenesis | 29/1080 | 309/18723 | 6.88e-03 | 4.67e-02 | 29 |
| GO:190290514 | Breast | IDC | positive regulation of supramolecular fiber organization | 37/1434 | 209/18723 | 1.33e-06 | 5.75e-05 | 37 |
| GO:004325414 | Breast | IDC | regulation of protein-containing complex assembly | 61/1434 | 428/18723 | 1.77e-06 | 7.31e-05 | 61 |
| GO:003133414 | Breast | IDC | positive regulation of protein-containing complex assembly | 40/1434 | 237/18723 | 1.77e-06 | 7.31e-05 | 40 |
| GO:003297014 | Breast | IDC | regulation of actin filament-based process | 56/1434 | 397/18723 | 6.37e-06 | 1.99e-04 | 56 |
| GO:190290314 | Breast | IDC | regulation of supramolecular fiber organization | 54/1434 | 383/18723 | 9.40e-06 | 2.66e-04 | 54 |
| GO:003227314 | Breast | IDC | positive regulation of protein polymerization | 25/1434 | 138/18723 | 4.46e-05 | 1.01e-03 | 25 |
| GO:005149513 | Breast | IDC | positive regulation of cytoskeleton organization | 35/1434 | 226/18723 | 5.04e-05 | 1.09e-03 | 35 |
| GO:003295614 | Breast | IDC | regulation of actin cytoskeleton organization | 48/1434 | 358/18723 | 1.03e-04 | 1.96e-03 | 48 |
| GO:000701514 | Breast | IDC | actin filament organization | 55/1434 | 442/18723 | 2.45e-04 | 3.84e-03 | 55 |
| 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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