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Gene: EPB41L5 |
Gene summary for EPB41L5 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | EPB41L5 | Gene ID | 57669 |
| Gene name | erythrocyte membrane protein band 4.1 like 5 | |
| Gene Alias | BE37 | |
| Cytomap | 2q14.2 | |
| Gene Type | protein-coding | GO ID | GO:0000578 | UniProtAcc | Q9HCM4 |
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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 |
| 57669 | EPB41L5 | CCI_1 | Human | Cervix | CC | 1.27e-03 | 6.38e-01 | 0.528 |
| 57669 | EPB41L5 | AEH-subject1 | Human | Endometrium | AEH | 1.72e-51 | 8.78e-01 | -0.3059 |
| 57669 | EPB41L5 | AEH-subject2 | Human | Endometrium | AEH | 2.98e-07 | 3.98e-01 | -0.2525 |
| 57669 | EPB41L5 | AEH-subject3 | Human | Endometrium | AEH | 1.34e-19 | 5.45e-01 | -0.2576 |
| 57669 | EPB41L5 | AEH-subject4 | Human | Endometrium | AEH | 2.61e-08 | 4.65e-01 | -0.2657 |
| 57669 | EPB41L5 | AEH-subject5 | Human | Endometrium | AEH | 1.20e-31 | 7.46e-01 | -0.2953 |
| 57669 | EPB41L5 | EEC-subject1 | Human | Endometrium | EEC | 1.26e-36 | 8.90e-01 | -0.2682 |
| 57669 | EPB41L5 | EEC-subject2 | Human | Endometrium | EEC | 9.82e-17 | 4.64e-01 | -0.2607 |
| 57669 | EPB41L5 | EEC-subject3 | Human | Endometrium | EEC | 8.74e-06 | 2.70e-01 | -0.2525 |
| 57669 | EPB41L5 | EEC-subject4 | Human | Endometrium | EEC | 1.61e-11 | 4.07e-01 | -0.2571 |
| 57669 | EPB41L5 | EEC-subject5 | Human | Endometrium | EEC | 4.13e-15 | 4.96e-01 | -0.249 |
| 57669 | EPB41L5 | GSM5276935 | Human | Endometrium | EEC | 2.16e-04 | 1.60e-01 | -0.123 |
| 57669 | EPB41L5 | GSM6177621_NYU_UCEC2_lib1_lib1 | Human | Endometrium | EEC | 1.42e-02 | 7.43e-02 | -0.1934 |
| 57669 | EPB41L5 | GSM6177622_NYU_UCEC3_lib1_lib1 | Human | Endometrium | EEC | 7.66e-03 | 4.95e-03 | -0.1917 |
| 57669 | EPB41L5 | LZE4T | Human | Esophagus | ESCC | 2.17e-07 | 3.06e-01 | 0.0811 |
| 57669 | EPB41L5 | LZE20T | Human | Esophagus | ESCC | 5.83e-03 | 2.56e-01 | 0.0662 |
| 57669 | EPB41L5 | LZE22T | Human | Esophagus | ESCC | 1.72e-03 | 4.49e-01 | 0.068 |
| 57669 | EPB41L5 | LZE24T | Human | Esophagus | ESCC | 1.72e-15 | 5.22e-01 | 0.0596 |
| 57669 | EPB41L5 | P1T-E | Human | Esophagus | ESCC | 9.90e-07 | 7.23e-01 | 0.0875 |
| 57669 | EPB41L5 | P2T-E | Human | Esophagus | ESCC | 1.17e-20 | 4.34e-01 | 0.1177 |
| Page: 1 2 3 4 5 6 7 |
| 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 | ||
| 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 | ||
| 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:00510998 | Lung | IAC | positive regulation of binding | 34/2061 | 173/18723 | 5.58e-04 | 7.76e-03 | 34 |
| GO:00300486 | Lung | IAC | actin filament-based movement | 27/2061 | 127/18723 | 5.70e-04 | 7.89e-03 | 27 |
| GO:00433938 | Lung | IAC | regulation of protein binding | 37/2061 | 196/18723 | 7.28e-04 | 9.60e-03 | 37 |
| GO:00511007 | Lung | IAC | negative regulation of binding | 32/2061 | 162/18723 | 7.30e-04 | 9.60e-03 | 32 |
| GO:00320926 | Lung | IAC | positive regulation of protein binding | 20/2061 | 85/18723 | 7.54e-04 | 9.82e-03 | 20 |
| GO:01501173 | Lung | IAC | positive regulation of cell-substrate junction organization | 10/2061 | 33/18723 | 2.18e-03 | 2.15e-02 | 10 |
| GO:0006929 | Lung | IAC | substrate-dependent cell migration | 8/2061 | 23/18723 | 2.28e-03 | 2.22e-02 | 8 |
| GO:00163312 | Lung | IAC | morphogenesis of embryonic epithelium | 28/2061 | 147/18723 | 2.65e-03 | 2.44e-02 | 28 |
| GO:00604852 | Lung | IAC | mesenchyme development | 47/2061 | 291/18723 | 4.61e-03 | 3.64e-02 | 47 |
| GO:00320915 | Lung | IAC | negative regulation of protein binding | 19/2061 | 94/18723 | 6.26e-03 | 4.48e-02 | 19 |
| GO:00487623 | Lung | IAC | mesenchymal cell differentiation | 39/2061 | 236/18723 | 6.33e-03 | 4.51e-02 | 39 |
| GO:00018372 | Lung | IAC | epithelial to mesenchymal transition | 28/2061 | 157/18723 | 6.84e-03 | 4.75e-02 | 28 |
| GO:000716012 | Lung | AIS | cell-matrix adhesion | 60/1849 | 233/18723 | 2.19e-12 | 2.55e-09 | 60 |
| GO:003158913 | Lung | AIS | cell-substrate adhesion | 80/1849 | 363/18723 | 3.80e-12 | 3.16e-09 | 80 |
| GO:000704413 | Lung | AIS | cell-substrate junction assembly | 34/1849 | 95/18723 | 8.17e-12 | 5.29e-09 | 34 |
| GO:015011513 | Lung | AIS | cell-substrate junction organization | 34/1849 | 101/18723 | 5.74e-11 | 2.09e-08 | 34 |
| GO:001081013 | Lung | AIS | regulation of cell-substrate adhesion | 55/1849 | 221/18723 | 7.48e-11 | 2.49e-08 | 55 |
| GO:004804112 | Lung | AIS | focal adhesion assembly | 31/1849 | 87/18723 | 7.71e-11 | 2.49e-08 | 31 |
| GO:005189313 | Lung | AIS | regulation of focal adhesion assembly | 26/1849 | 66/18723 | 1.99e-10 | 5.52e-08 | 26 |
| GO:009010913 | Lung | AIS | regulation of cell-substrate junction assembly | 26/1849 | 66/18723 | 1.99e-10 | 5.52e-08 | 26 |
| 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 |
| 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 |
| EPB41L5 | SNV | Missense_Mutation | c.391C>T | p.Arg131Cys | p.R131C | Q9HCM4 | protein_coding | deleterious(0) | probably_damaging(0.912) | TCGA-A7-A26F-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD | |
| EPB41L5 | SNV | Missense_Mutation | c.966C>G | p.Phe322Leu | p.F322L | Q9HCM4 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AR-A0TX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| EPB41L5 | SNV | Missense_Mutation | c.1851N>T | p.Met617Ile | p.M617I | Q9HCM4 | protein_coding | tolerated_low_confidence(0.5) | benign(0.003) | TCGA-BH-A0DK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |
| EPB41L5 | SNV | Missense_Mutation | novel | c.1279N>T | p.Pro427Ser | p.P427S | Q9HCM4 | protein_coding | tolerated(0.54) | benign(0.075) | TCGA-D8-A1JF-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| EPB41L5 | SNV | Missense_Mutation | c.274N>C | p.Ala92Pro | p.A92P | Q9HCM4 | protein_coding | tolerated(0.09) | probably_damaging(0.994) | TCGA-D8-A27F-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin+cyclophosphamide | SD | |
| EPB41L5 | SNV | Missense_Mutation | novel | c.1900G>A | p.Glu634Lys | p.E634K | Q9HCM4 | protein_coding | deleterious_low_confidence(0.04) | benign(0.214) | TCGA-VS-A9UP-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
| EPB41L5 | SNV | Missense_Mutation | c.473C>T | p.Thr158Ile | p.T158I | Q9HCM4 | protein_coding | deleterious(0.03) | probably_damaging(0.989) | TCGA-AA-3502-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| EPB41L5 | SNV | Missense_Mutation | c.563N>C | p.Arg188Thr | p.R188T | Q9HCM4 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3697-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| EPB41L5 | SNV | Missense_Mutation | c.2079A>T | p.Lys693Asn | p.K693N | Q9HCM4 | protein_coding | tolerated_low_confidence(0.4) | benign(0.007) | TCGA-AA-3875-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| EPB41L5 | SNV | Missense_Mutation | rs150028843 | c.433C>G | p.Gln145Glu | p.Q145E | Q9HCM4 | protein_coding | deleterious(0.04) | possibly_damaging(0.892) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | 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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