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Gene: EPS8 |
Gene summary for EPS8 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | EPS8 | Gene ID | 2059 |
| Gene name | epidermal growth factor receptor pathway substrate 8 | |
| Gene Alias | DFNB102 | |
| Cytomap | 12p12.3 | |
| Gene Type | protein-coding | GO ID | GO:0000278 | UniProtAcc | B4E3T6 |
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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 |
| 2059 | EPS8 | HTA11_3410_2000001011 | Human | Colorectum | AD | 7.86e-43 | -1.07e+00 | 0.0155 |
| 2059 | EPS8 | HTA11_2951_2000001011 | Human | Colorectum | AD | 1.06e-03 | -8.33e-01 | 0.0216 |
| 2059 | EPS8 | HTA11_3361_2000001011 | Human | Colorectum | AD | 5.36e-21 | -1.03e+00 | -0.1207 |
| 2059 | EPS8 | HTA11_83_2000001011 | Human | Colorectum | SER | 5.83e-08 | -5.93e-01 | -0.1526 |
| 2059 | EPS8 | HTA11_696_2000001011 | Human | Colorectum | AD | 9.16e-33 | -5.86e-01 | -0.1464 |
| 2059 | EPS8 | HTA11_866_2000001011 | Human | Colorectum | AD | 2.63e-16 | -5.56e-01 | -0.1001 |
| 2059 | EPS8 | HTA11_1391_2000001011 | Human | Colorectum | AD | 4.43e-04 | -5.49e-01 | -0.059 |
| 2059 | EPS8 | HTA11_5212_2000001011 | Human | Colorectum | AD | 9.94e-03 | -5.51e-01 | -0.2061 |
| 2059 | EPS8 | HTA11_546_2000001011 | Human | Colorectum | AD | 3.92e-03 | -6.16e-01 | -0.0842 |
| 2059 | EPS8 | HTA11_9341_2000001011 | Human | Colorectum | SER | 6.34e-05 | -1.12e+00 | -0.00410000000000005 |
| 2059 | EPS8 | HTA11_7862_2000001011 | Human | Colorectum | AD | 1.20e-06 | -5.79e-01 | -0.0179 |
| 2059 | EPS8 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.58e-10 | -7.09e-01 | 0.096 |
| 2059 | EPS8 | HTA11_4255_2000001011 | Human | Colorectum | SER | 2.26e-04 | -9.36e-01 | 0.0446 |
| 2059 | EPS8 | HTA11_9408_2000001011 | Human | Colorectum | AD | 1.84e-02 | -8.31e-01 | 0.0451 |
| 2059 | EPS8 | HTA11_8622_2000001021 | Human | Colorectum | SER | 5.74e-08 | -1.01e+00 | 0.0528 |
| 2059 | EPS8 | HTA11_7663_2000001011 | Human | Colorectum | SER | 4.92e-03 | -6.52e-01 | 0.0131 |
| 2059 | EPS8 | HTA11_10623_2000001011 | Human | Colorectum | AD | 4.23e-03 | -5.79e-01 | -0.0177 |
| 2059 | EPS8 | HTA11_6801_2000001011 | Human | Colorectum | SER | 3.65e-02 | -8.03e-01 | 0.0171 |
| 2059 | EPS8 | HTA11_10711_2000001011 | Human | Colorectum | AD | 2.97e-18 | -8.78e-01 | 0.0338 |
| 2059 | EPS8 | HTA11_7696_3000711011 | Human | Colorectum | AD | 1.96e-23 | -6.52e-01 | 0.0674 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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 | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| GC |  | CAG: Chronic atrophic gastritis |
| CAG with IM: Chronic atrophic gastritis with intestinal metaplasia | ||
| CSG: Chronic superficial gastritis | ||
| GC: Gastric cancer | ||
| SIM: Severe intestinal metaplasia | ||
| WIM: Wild intestinal metaplasia | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| 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:009717811 | Lung | AIS | ruffle assembly | 11/1849 | 44/18723 | 3.01e-03 | 2.97e-02 | 11 |
| GO:003083713 | Lung | AIS | negative regulation of actin filament polymerization | 14/1849 | 65/18723 | 3.90e-03 | 3.59e-02 | 14 |
| GO:00300418 | Lung | AIS | actin filament polymerization | 31/1849 | 191/18723 | 3.90e-03 | 3.59e-02 | 31 |
| GO:00308338 | Lung | AIS | regulation of actin filament polymerization | 28/1849 | 172/18723 | 5.64e-03 | 4.76e-02 | 28 |
| GO:00973057 | Lung | AIS | response to alcohol | 38/1849 | 253/18723 | 5.88e-03 | 4.89e-02 | 38 |
| GO:002260423 | Lung | AAH | regulation of cell morphogenesis | 30/613 | 309/18723 | 1.18e-07 | 6.77e-05 | 30 |
| GO:000701523 | Lung | AAH | actin filament organization | 37/613 | 442/18723 | 1.88e-07 | 9.56e-05 | 37 |
| GO:003153222 | Lung | AAH | actin cytoskeleton reorganization | 16/613 | 107/18723 | 3.93e-07 | 1.64e-04 | 16 |
| GO:000836023 | Lung | AAH | regulation of cell shape | 16/613 | 154/18723 | 4.67e-05 | 5.22e-03 | 16 |
| GO:005101723 | Lung | AAH | actin filament bundle assembly | 16/613 | 157/18723 | 5.91e-05 | 5.52e-03 | 16 |
| GO:190290323 | Lung | AAH | regulation of supramolecular fiber organization | 28/613 | 383/18723 | 6.82e-05 | 6.09e-03 | 28 |
| GO:006157223 | Lung | AAH | actin filament bundle organization | 16/613 | 161/18723 | 7.99e-05 | 6.21e-03 | 16 |
| GO:003297023 | Lung | AAH | regulation of actin filament-based process | 27/613 | 397/18723 | 2.96e-04 | 1.45e-02 | 27 |
| GO:003295623 | Lung | AAH | regulation of actin cytoskeleton organization | 25/613 | 358/18723 | 3.31e-04 | 1.55e-02 | 25 |
| GO:190290422 | Lung | AAH | negative regulation of supramolecular fiber organization | 15/613 | 167/18723 | 4.01e-04 | 1.78e-02 | 15 |
| GO:009730513 | Lung | AAH | response to alcohol | 19/613 | 253/18723 | 7.02e-04 | 2.55e-02 | 19 |
| GO:011005323 | Lung | AAH | regulation of actin filament organization | 20/613 | 278/18723 | 8.79e-04 | 2.88e-02 | 20 |
| GO:005149422 | Lung | AAH | negative regulation of cytoskeleton organization | 14/613 | 163/18723 | 9.62e-04 | 2.94e-02 | 14 |
| GO:003083313 | Lung | AAH | regulation of actin filament polymerization | 14/613 | 172/18723 | 1.61e-03 | 3.96e-02 | 14 |
| GO:003227123 | Lung | AAH | regulation of protein polymerization | 17/613 | 233/18723 | 1.79e-03 | 4.22e-02 | 17 |
| 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 |
| 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 |
| 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 |
| EPS8 | SNV | Missense_Mutation | c.982N>C | p.Phe328Leu | p.F328L | Q12929 | protein_coding | tolerated(0.05) | possibly_damaging(0.533) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| EPS8 | SNV | Missense_Mutation | c.1785G>T | p.Leu595Phe | p.L595F | Q12929 | protein_coding | tolerated(0.32) | benign(0.003) | TCGA-AO-A0JC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD | |
| EPS8 | SNV | Missense_Mutation | c.1508A>G | p.His503Arg | p.H503R | Q12929 | protein_coding | tolerated(0.35) | benign(0) | TCGA-AQ-A04H-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD | |
| EPS8 | SNV | Missense_Mutation | c.220N>T | p.Val74Phe | p.V74F | Q12929 | protein_coding | deleterious(0) | possibly_damaging(0.57) | TCGA-B6-A0RP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| EPS8 | SNV | Missense_Mutation | rs776013800 | c.287C>G | p.Ala96Gly | p.A96G | Q12929 | protein_coding | deleterious(0.01) | possibly_damaging(0.574) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| EPS8 | SNV | Missense_Mutation | rs369986759 | c.794N>A | p.Arg265His | p.R265H | Q12929 | protein_coding | deleterious(0) | benign(0.097) | TCGA-D8-A1J8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | nolvadex | SD |
| EPS8 | SNV | Missense_Mutation | c.1313A>T | p.Glu438Val | p.E438V | Q12929 | protein_coding | deleterious(0) | possibly_damaging(0.459) | TCGA-E9-A22G-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
| EPS8 | insertion | Frame_Shift_Ins | novel | c.2371_2372insTTGCTGTTTTAGGTAGTATGGCCATTTTCAC | p.Ser791PhefsTer29 | p.S791Ffs*29 | Q12929 | protein_coding | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | ||
| EPS8 | SNV | Missense_Mutation | rs147224631 | c.1300N>T | p.Arg434Cys | p.R434C | Q12929 | protein_coding | deleterious(0) | benign(0.125) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| EPS8 | SNV | Missense_Mutation | c.1499N>C | p.Arg500Thr | p.R500T | Q12929 | protein_coding | tolerated(0.08) | benign(0.024) | TCGA-EK-A2RJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 7 8 9 |
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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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