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Gene: EPS15 |
Gene summary for EPS15 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | EPS15 | Gene ID | 2060 |
| Gene name | epidermal growth factor receptor pathway substrate 15 | |
| Gene Alias | AF-1P | |
| Cytomap | 1p32.3 | |
| Gene Type | protein-coding | GO ID | GO:0001881 | UniProtAcc | B7Z240 |
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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 |
| 2060 | EPS15 | CCI_1 | Human | Cervix | CC | 7.09e-04 | 7.67e-01 | 0.528 |
| 2060 | EPS15 | CCI_3 | Human | Cervix | CC | 2.69e-08 | 8.37e-01 | 0.516 |
| 2060 | EPS15 | HTA11_3410_2000001011 | Human | Colorectum | AD | 7.66e-10 | -5.05e-01 | 0.0155 |
| 2060 | EPS15 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.05e-05 | -4.34e-01 | 0.096 |
| 2060 | EPS15 | HTA11_7696_3000711011 | Human | Colorectum | AD | 2.28e-04 | -4.21e-01 | 0.0674 |
| 2060 | EPS15 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 7.57e-06 | -4.25e-01 | 0.3005 |
| 2060 | EPS15 | F007 | Human | Colorectum | FAP | 4.16e-04 | -3.31e-01 | 0.1176 |
| 2060 | EPS15 | A015-C-203 | Human | Colorectum | FAP | 3.52e-27 | -3.84e-01 | -0.1294 |
| 2060 | EPS15 | A015-C-204 | Human | Colorectum | FAP | 2.51e-05 | -3.16e-01 | -0.0228 |
| 2060 | EPS15 | A014-C-040 | Human | Colorectum | FAP | 2.08e-05 | -5.79e-01 | -0.1184 |
| 2060 | EPS15 | A002-C-201 | Human | Colorectum | FAP | 2.74e-09 | -2.71e-01 | 0.0324 |
| 2060 | EPS15 | A002-C-203 | Human | Colorectum | FAP | 2.26e-04 | -1.78e-01 | 0.2786 |
| 2060 | EPS15 | A001-C-119 | Human | Colorectum | FAP | 2.64e-06 | -3.97e-01 | -0.1557 |
| 2060 | EPS15 | A001-C-108 | Human | Colorectum | FAP | 2.21e-17 | -2.76e-01 | -0.0272 |
| 2060 | EPS15 | A002-C-205 | Human | Colorectum | FAP | 1.55e-19 | -4.45e-01 | -0.1236 |
| 2060 | EPS15 | A001-C-104 | Human | Colorectum | FAP | 3.13e-02 | -1.01e-01 | 0.0184 |
| 2060 | EPS15 | A015-C-005 | Human | Colorectum | FAP | 5.12e-03 | -2.59e-01 | -0.0336 |
| 2060 | EPS15 | A015-C-006 | Human | Colorectum | FAP | 4.52e-13 | -4.38e-01 | -0.0994 |
| 2060 | EPS15 | A015-C-106 | Human | Colorectum | FAP | 4.32e-09 | -2.38e-01 | -0.0511 |
| 2060 | EPS15 | A002-C-114 | Human | Colorectum | FAP | 2.67e-16 | -4.25e-01 | -0.1561 |
| Page: 1 2 3 4 5 6 7 8 9 |
| 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 | ||
| 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 | ||
| 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:004440313 | Lung | AIS | biological process involved in symbiotic interaction | 58/1849 | 290/18723 | 1.33e-07 | 1.44e-05 | 58 |
| GO:000689812 | Lung | AIS | receptor-mediated endocytosis | 50/1849 | 244/18723 | 4.47e-07 | 3.52e-05 | 50 |
| GO:009900311 | Lung | AIS | vesicle-mediated transport in synapse | 42/1849 | 200/18723 | 1.87e-06 | 1.10e-04 | 42 |
| GO:000689212 | Lung | AIS | post-Golgi vesicle-mediated transport | 26/1849 | 104/18723 | 6.59e-06 | 2.93e-04 | 26 |
| GO:001648212 | Lung | AIS | cytosolic transport | 35/1849 | 168/18723 | 1.57e-05 | 5.63e-04 | 35 |
| GO:009907211 | Lung | AIS | regulation of postsynaptic membrane neurotransmitter receptor levels | 18/1849 | 62/18723 | 1.94e-05 | 6.70e-04 | 18 |
| GO:004311212 | Lung | AIS | receptor metabolic process | 32/1849 | 166/18723 | 1.68e-04 | 3.53e-03 | 32 |
| GO:003150311 | Lung | AIS | protein-containing complex localization | 39/1849 | 220/18723 | 2.24e-04 | 4.51e-03 | 39 |
| GO:00068951 | Lung | AIS | Golgi to endosome transport | 7/1849 | 17/18723 | 7.21e-04 | 1.04e-02 | 7 |
| GO:009887612 | Lung | AIS | vesicle-mediated transport to the plasma membrane | 26/1849 | 136/18723 | 7.48e-04 | 1.07e-02 | 26 |
| GO:001619712 | Lung | AIS | endosomal transport | 38/1849 | 230/18723 | 1.08e-03 | 1.41e-02 | 38 |
| GO:004819312 | Lung | AIS | Golgi vesicle transport | 46/1849 | 296/18723 | 1.32e-03 | 1.64e-02 | 46 |
| GO:00988841 | Lung | AIS | postsynaptic neurotransmitter receptor internalization | 6/1849 | 16/18723 | 3.08e-03 | 2.98e-02 | 6 |
| GO:01402391 | Lung | AIS | postsynaptic endocytosis | 6/1849 | 16/18723 | 3.08e-03 | 2.98e-02 | 6 |
| GO:00482684 | Lung | AIS | clathrin coat assembly | 6/1849 | 18/18723 | 6.01e-03 | 4.96e-02 | 6 |
| GO:001603220 | Oral cavity | OSCC | viral process | 274/7305 | 415/18723 | 2.42e-29 | 1.70e-26 | 274 |
| GO:004819315 | Oral cavity | OSCC | Golgi vesicle transport | 209/7305 | 296/18723 | 1.39e-28 | 6.30e-26 | 209 |
| GO:001905820 | Oral cavity | OSCC | viral life cycle | 208/7305 | 317/18723 | 4.59e-22 | 1.00e-19 | 208 |
| GO:00160508 | Oral cavity | OSCC | vesicle organization | 189/7305 | 300/18723 | 2.40e-17 | 2.14e-15 | 189 |
| GO:004440320 | Oral cavity | OSCC | biological process involved in symbiotic interaction | 173/7305 | 290/18723 | 6.80e-13 | 3.19e-11 | 173 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0414418 | Cervix | CC | Endocytosis | 64/1267 | 251/8465 | 6.97e-06 | 6.10e-05 | 3.61e-05 | 64 |
| hsa0414419 | Cervix | CC | Endocytosis | 64/1267 | 251/8465 | 6.97e-06 | 6.10e-05 | 3.61e-05 | 64 |
| hsa04144 | Colorectum | AD | Endocytosis | 111/2092 | 251/8465 | 5.95e-12 | 1.42e-10 | 9.08e-11 | 111 |
| hsa041441 | Colorectum | AD | Endocytosis | 111/2092 | 251/8465 | 5.95e-12 | 1.42e-10 | 9.08e-11 | 111 |
| hsa041444 | Colorectum | MSS | Endocytosis | 102/1875 | 251/8465 | 1.85e-11 | 4.43e-10 | 2.71e-10 | 102 |
| hsa041445 | Colorectum | MSS | Endocytosis | 102/1875 | 251/8465 | 1.85e-11 | 4.43e-10 | 2.71e-10 | 102 |
| hsa041446 | Colorectum | FAP | Endocytosis | 78/1404 | 251/8465 | 6.20e-09 | 2.96e-07 | 1.80e-07 | 78 |
| hsa041447 | Colorectum | FAP | Endocytosis | 78/1404 | 251/8465 | 6.20e-09 | 2.96e-07 | 1.80e-07 | 78 |
| hsa041448 | Colorectum | CRC | Endocytosis | 65/1091 | 251/8465 | 1.27e-08 | 1.06e-06 | 7.19e-07 | 65 |
| hsa041449 | Colorectum | CRC | Endocytosis | 65/1091 | 251/8465 | 1.27e-08 | 1.06e-06 | 7.19e-07 | 65 |
| hsa0414420 | Endometrium | AEH | Endocytosis | 56/1197 | 251/8465 | 2.58e-04 | 2.15e-03 | 1.57e-03 | 56 |
| hsa04144110 | Endometrium | AEH | Endocytosis | 56/1197 | 251/8465 | 2.58e-04 | 2.15e-03 | 1.57e-03 | 56 |
| hsa0414424 | Endometrium | EEC | Endocytosis | 57/1237 | 251/8465 | 3.34e-04 | 2.82e-03 | 2.10e-03 | 57 |
| hsa0414434 | Endometrium | EEC | Endocytosis | 57/1237 | 251/8465 | 3.34e-04 | 2.82e-03 | 2.10e-03 | 57 |
| hsa04144210 | Esophagus | ESCC | Endocytosis | 186/4205 | 251/8465 | 9.74e-16 | 4.66e-14 | 2.39e-14 | 186 |
| hsa0414437 | Esophagus | ESCC | Endocytosis | 186/4205 | 251/8465 | 9.74e-16 | 4.66e-14 | 2.39e-14 | 186 |
| hsa0414422 | Liver | HCC | Endocytosis | 178/4020 | 251/8465 | 2.03e-14 | 5.22e-13 | 2.91e-13 | 178 |
| hsa0414432 | Liver | HCC | Endocytosis | 178/4020 | 251/8465 | 2.03e-14 | 5.22e-13 | 2.91e-13 | 178 |
| hsa0414414 | Lung | IAC | Endocytosis | 51/1053 | 251/8465 | 2.25e-04 | 2.54e-03 | 1.68e-03 | 51 |
| hsa0414415 | Lung | IAC | Endocytosis | 51/1053 | 251/8465 | 2.25e-04 | 2.54e-03 | 1.68e-03 | 51 |
| Page: 1 2 |
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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 |
| EPS15 | SNV | Missense_Mutation | c.932N>T | p.Ser311Leu | p.S311L | P42566 | protein_coding | deleterious(0) | benign(0.266) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response | |
| EPS15 | SNV | Missense_Mutation | c.742N>T | p.Val248Phe | p.V248F | P42566 | protein_coding | deleterious(0) | possibly_damaging(0.851) | TCGA-A7-A0DA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
| EPS15 | SNV | Missense_Mutation | c.1931G>T | p.Gly644Val | p.G644V | P42566 | protein_coding | deleterious(0) | probably_damaging(0.964) | TCGA-AR-A1AT-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | anastrozole | SD | |
| EPS15 | SNV | Missense_Mutation | c.1903N>A | p.Pro635Thr | p.P635T | P42566 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD | |
| EPS15 | SNV | Missense_Mutation | c.1278C>G | p.Ile426Met | p.I426M | P42566 | protein_coding | deleterious(0.01) | probably_damaging(0.949) | TCGA-EW-A1OV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | epirubicin | SD | |
| EPS15 | SNV | Missense_Mutation | novel | c.967T>C | p.Ser323Pro | p.S323P | P42566 | protein_coding | tolerated(0.07) | benign(0.001) | TCGA-OL-A66H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| EPS15 | insertion | Nonsense_Mutation | novel | c.671_672insCAAACCTTGTAATTTGAGATAGGTGGTGGTGTTTCTG | p.Glu224AspfsTer8 | p.E224Dfs*8 | P42566 | protein_coding | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| EPS15 | insertion | Nonsense_Mutation | novel | c.2179_2180insAATTACCTTAATACTGGCCCTAACAACC | p.Phe727Ter | p.F727* | P42566 | protein_coding | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| EPS15 | SNV | Missense_Mutation | novel | c.1634G>A | p.Gly545Asp | p.G545D | P42566 | protein_coding | tolerated(0.13) | benign(0.225) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| EPS15 | SNV | Missense_Mutation | c.776N>G | p.Ser259Cys | p.S259C | P42566 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-C5-A1BJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 |
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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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