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Gene: EPOR |
Gene summary for EPOR |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | EPOR | Gene ID | 2057 |
| Gene name | erythropoietin receptor | |
| Gene Alias | EPO-R | |
| Cytomap | 19p13.2 | |
| Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | P19235 |
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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 |
| 2057 | EPOR | male-WTA | Human | Thyroid | PTC | 2.26e-37 | 4.21e-01 | 0.1037 |
| 2057 | EPOR | PTC01 | Human | Thyroid | PTC | 1.91e-06 | 1.67e-01 | 0.1899 |
| 2057 | EPOR | PTC03 | Human | Thyroid | PTC | 1.63e-03 | 3.63e-01 | 0.1784 |
| 2057 | EPOR | PTC04 | Human | Thyroid | PTC | 1.02e-44 | 6.96e-01 | 0.1927 |
| 2057 | EPOR | PTC05 | Human | Thyroid | PTC | 7.86e-11 | 5.75e-01 | 0.2065 |
| 2057 | EPOR | PTC06 | Human | Thyroid | PTC | 1.60e-27 | 6.93e-01 | 0.2057 |
| 2057 | EPOR | PTC07 | Human | Thyroid | PTC | 7.95e-25 | 4.13e-01 | 0.2044 |
| 2057 | EPOR | ATC12 | Human | Thyroid | ATC | 1.17e-02 | 8.87e-04 | 0.34 |
| 2057 | EPOR | ATC13 | Human | Thyroid | ATC | 4.71e-12 | 1.60e-01 | 0.34 |
| 2057 | EPOR | ATC5 | Human | Thyroid | ATC | 1.60e-11 | 1.87e-01 | 0.34 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| 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:0061458112 | Thyroid | PTC | reproductive system development | 173/5968 | 427/18723 | 8.70e-05 | 7.23e-04 | 173 |
| GO:0048608111 | Thyroid | PTC | reproductive structure development | 170/5968 | 424/18723 | 1.86e-04 | 1.41e-03 | 170 |
| GO:0001890112 | Thyroid | PTC | placenta development | 66/5968 | 144/18723 | 3.06e-04 | 2.14e-03 | 66 |
| GO:000189315 | Thyroid | PTC | maternal placenta development | 18/5968 | 35/18723 | 1.26e-02 | 4.90e-02 | 18 |
| GO:006145827 | Thyroid | ATC | reproductive system development | 193/6293 | 427/18723 | 3.32e-07 | 4.92e-06 | 193 |
| GO:004860825 | Thyroid | ATC | reproductive structure development | 190/6293 | 424/18723 | 8.40e-07 | 1.11e-05 | 190 |
| GO:000189026 | Thyroid | ATC | placenta development | 70/6293 | 144/18723 | 1.33e-04 | 9.33e-04 | 70 |
| GO:000189321 | Thyroid | ATC | maternal placenta development | 21/6293 | 35/18723 | 1.22e-03 | 6.41e-03 | 21 |
| GO:000756517 | Thyroid | ATC | female pregnancy | 82/6293 | 193/18723 | 6.04e-03 | 2.42e-02 | 82 |
| GO:00601358 | Thyroid | ATC | maternal process involved in female pregnancy | 30/6293 | 62/18723 | 1.12e-02 | 4.00e-02 | 30 |
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| 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 |
| EPOR | SNV | Missense_Mutation | c.880G>C | p.Glu294Gln | p.E294Q | P19235 | protein_coding | tolerated(0.17) | benign(0.056) | TCGA-D8-A1JC-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD | |
| EPOR | SNV | Missense_Mutation | c.1409N>T | p.Ser470Leu | p.S470L | P19235 | protein_coding | tolerated(0.36) | benign(0.17) | TCGA-E2-A152-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Targeted Molecular therapy | trastuzumab | PD | |
| EPOR | SNV | Missense_Mutation | c.145G>A | p.Glu49Lys | p.E49K | P19235 | protein_coding | tolerated(0.25) | benign(0.014) | TCGA-E2-A15M-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD | |
| EPOR | SNV | Missense_Mutation | novel | c.1498N>A | p.Leu500Met | p.L500M | P19235 | protein_coding | tolerated(0.21) | benign(0.133) | TCGA-EW-A1IW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | aromasin | SD |
| EPOR | SNV | Missense_Mutation | c.529C>T | p.His177Tyr | p.H177Y | P19235 | protein_coding | tolerated(0.6) | possibly_damaging(0.454) | TCGA-IR-A3LH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| EPOR | SNV | Missense_Mutation | c.803N>G | p.Val268Gly | p.V268G | P19235 | protein_coding | tolerated(0.08) | benign(0.163) | TCGA-AD-6901-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | xeloda | PD | |
| EPOR | SNV | Missense_Mutation | novel | c.334N>T | p.Ala112Ser | p.A112S | P19235 | protein_coding | tolerated(0.26) | benign(0.021) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| EPOR | SNV | Missense_Mutation | c.975N>T | p.Glu325Asp | p.E325D | P19235 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| EPOR | SNV | Missense_Mutation | rs772993810 | c.971N>T | p.Thr324Met | p.T324M | P19235 | protein_coding | tolerated(0.1) | benign(0.036) | TCGA-AP-A1DO-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| EPOR | SNV | Missense_Mutation | c.338N>G | p.Asp113Gly | p.D113G | P19235 | protein_coding | deleterious(0.02) | possibly_damaging(0.868) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=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 |
| 2057 | EPOR | CLINICALLY ACTIONABLE, EXTERNAL SIDE OF PLASMA MEMBRANE, TRANSCRIPTION FACTOR, KINASE, DRUGGABLE GENOME | METHOXY POLYETHYLENE GLYCOL-EPOETIN BETA | |||
| 2057 | EPOR | CLINICALLY ACTIONABLE, EXTERNAL SIDE OF PLASMA MEMBRANE, TRANSCRIPTION FACTOR, KINASE, DRUGGABLE GENOME | Epoetin zeta | |||
| 2057 | EPOR | CLINICALLY ACTIONABLE, EXTERNAL SIDE OF PLASMA MEMBRANE, TRANSCRIPTION FACTOR, KINASE, DRUGGABLE GENOME | agonist | CHEMBL1201566 | DARBEPOETIN ALFA | |
| 2057 | EPOR | CLINICALLY ACTIONABLE, EXTERNAL SIDE OF PLASMA MEMBRANE, TRANSCRIPTION FACTOR, KINASE, DRUGGABLE GENOME | agonist | 348353636 | CIBINETIDE | |
| 2057 | EPOR | CLINICALLY ACTIONABLE, EXTERNAL SIDE OF PLASMA MEMBRANE, TRANSCRIPTION FACTOR, KINASE, DRUGGABLE GENOME | ErepoXen | |||
| 2057 | EPOR | CLINICALLY ACTIONABLE, EXTERNAL SIDE OF PLASMA MEMBRANE, TRANSCRIPTION FACTOR, KINASE, DRUGGABLE GENOME | HEMATIDE | PEGINESATIDE | ||
| 2057 | EPOR | CLINICALLY ACTIONABLE, EXTERNAL SIDE OF PLASMA MEMBRANE, TRANSCRIPTION FACTOR, KINASE, DRUGGABLE GENOME | agonist | CHEMBL2107866 | PEGINESATIDE | |
| 2057 | EPOR | CLINICALLY ACTIONABLE, EXTERNAL SIDE OF PLASMA MEMBRANE, TRANSCRIPTION FACTOR, KINASE, DRUGGABLE GENOME | DARBEPOETIN ALFA | |||
| 2057 | EPOR | CLINICALLY ACTIONABLE, EXTERNAL SIDE OF PLASMA MEMBRANE, TRANSCRIPTION FACTOR, KINASE, DRUGGABLE GENOME | DARBEPOETIN ALFA | |||
| 2057 | EPOR | CLINICALLY ACTIONABLE, EXTERNAL SIDE OF PLASMA MEMBRANE, TRANSCRIPTION FACTOR, KINASE, DRUGGABLE GENOME | Darbepoetin alfa |
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