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Gene: EPB41L1 |
Gene summary for EPB41L1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | EPB41L1 | Gene ID | 2036 |
| Gene name | erythrocyte membrane protein band 4.1 like 1 | |
| Gene Alias | 4.1N | |
| Cytomap | 20q11.23 | |
| Gene Type | protein-coding | GO ID | GO:0006996 | UniProtAcc | A0A0C4DH22 |
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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 |
| 2036 | EPB41L1 | CA_HPV_1 | Human | Cervix | CC | 1.74e-05 | -1.91e-01 | 0.0264 |
| 2036 | EPB41L1 | CCI_2 | Human | Cervix | CC | 1.94e-03 | 1.25e+00 | 0.5249 |
| 2036 | EPB41L1 | CCI_3 | Human | Cervix | CC | 2.65e-10 | 1.43e+00 | 0.516 |
| 2036 | EPB41L1 | HTA11_347_2000001011 | Human | Colorectum | AD | 2.09e-08 | 5.13e-01 | -0.1954 |
| 2036 | EPB41L1 | HTA11_83_2000001011 | Human | Colorectum | SER | 5.19e-05 | 5.22e-01 | -0.1526 |
| 2036 | EPB41L1 | HTA11_866_2000001011 | Human | Colorectum | AD | 2.73e-02 | 4.06e-01 | -0.1001 |
| 2036 | EPB41L1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 3.77e-04 | -3.69e-01 | 0.294 |
| 2036 | EPB41L1 | A015-C-203 | Human | Colorectum | FAP | 5.32e-18 | -3.23e-01 | -0.1294 |
| 2036 | EPB41L1 | A002-C-201 | Human | Colorectum | FAP | 6.49e-08 | -8.91e-02 | 0.0324 |
| 2036 | EPB41L1 | A001-C-119 | Human | Colorectum | FAP | 1.27e-03 | -2.62e-01 | -0.1557 |
| 2036 | EPB41L1 | A001-C-108 | Human | Colorectum | FAP | 4.47e-11 | -1.91e-01 | -0.0272 |
| 2036 | EPB41L1 | A002-C-205 | Human | Colorectum | FAP | 2.52e-17 | -1.69e-02 | -0.1236 |
| 2036 | EPB41L1 | A015-C-005 | Human | Colorectum | FAP | 3.60e-02 | -2.39e-01 | -0.0336 |
| 2036 | EPB41L1 | A015-C-006 | Human | Colorectum | FAP | 4.79e-09 | -3.58e-01 | -0.0994 |
| 2036 | EPB41L1 | A015-C-106 | Human | Colorectum | FAP | 9.62e-08 | -2.78e-01 | -0.0511 |
| 2036 | EPB41L1 | A002-C-114 | Human | Colorectum | FAP | 1.10e-12 | -2.68e-01 | -0.1561 |
| 2036 | EPB41L1 | A015-C-104 | Human | Colorectum | FAP | 4.26e-23 | -4.33e-01 | -0.1899 |
| 2036 | EPB41L1 | A001-C-014 | Human | Colorectum | FAP | 7.78e-08 | -2.89e-01 | 0.0135 |
| 2036 | EPB41L1 | A002-C-016 | Human | Colorectum | FAP | 1.37e-12 | -2.70e-01 | 0.0521 |
| 2036 | EPB41L1 | A015-C-002 | Human | Colorectum | FAP | 2.56e-07 | -3.43e-01 | -0.0763 |
| Page: 1 2 3 4 5 |
| 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 | ||
| 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 |
| ∗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:00308657 | Cervix | CC | cortical cytoskeleton organization | 19/2311 | 61/18723 | 8.72e-05 | 1.16e-03 | 19 |
| GO:00310329 | Cervix | CC | actomyosin structure organization | 43/2311 | 196/18723 | 1.11e-04 | 1.40e-03 | 43 |
| GO:00308667 | Cervix | CC | cortical actin cytoskeleton organization | 12/2311 | 40/18723 | 2.44e-03 | 1.71e-02 | 12 |
| GO:0031032 | Colorectum | AD | actomyosin structure organization | 65/3918 | 196/18723 | 4.17e-05 | 7.37e-04 | 65 |
| GO:0030866 | Colorectum | AD | cortical actin cytoskeleton organization | 19/3918 | 40/18723 | 1.58e-04 | 2.20e-03 | 19 |
| GO:0030865 | Colorectum | AD | cortical cytoskeleton organization | 25/3918 | 61/18723 | 2.96e-04 | 3.60e-03 | 25 |
| GO:00308651 | Colorectum | SER | cortical cytoskeleton organization | 19/2897 | 61/18723 | 1.59e-03 | 1.69e-02 | 19 |
| GO:00308661 | Colorectum | SER | cortical actin cytoskeleton organization | 14/2897 | 40/18723 | 1.88e-03 | 1.90e-02 | 14 |
| GO:00310321 | Colorectum | SER | actomyosin structure organization | 45/2897 | 196/18723 | 3.60e-03 | 3.03e-02 | 45 |
| GO:00308652 | Colorectum | MSS | cortical cytoskeleton organization | 24/3467 | 61/18723 | 1.16e-04 | 1.81e-03 | 24 |
| GO:00308662 | Colorectum | MSS | cortical actin cytoskeleton organization | 17/3467 | 40/18723 | 3.87e-04 | 4.86e-03 | 17 |
| GO:00310322 | Colorectum | MSS | actomyosin structure organization | 53/3467 | 196/18723 | 2.04e-03 | 1.75e-02 | 53 |
| GO:00310323 | Colorectum | FAP | actomyosin structure organization | 51/2622 | 196/18723 | 5.89e-06 | 1.88e-04 | 51 |
| GO:00308663 | Colorectum | FAP | cortical actin cytoskeleton organization | 14/2622 | 40/18723 | 6.94e-04 | 7.50e-03 | 14 |
| GO:00308653 | Colorectum | FAP | cortical cytoskeleton organization | 18/2622 | 61/18723 | 1.30e-03 | 1.20e-02 | 18 |
| GO:00310324 | Colorectum | CRC | actomyosin structure organization | 45/2078 | 196/18723 | 1.49e-06 | 8.14e-05 | 45 |
| GO:00308664 | Colorectum | CRC | cortical actin cytoskeleton organization | 14/2078 | 40/18723 | 5.81e-05 | 1.31e-03 | 14 |
| GO:00308654 | Colorectum | CRC | cortical cytoskeleton organization | 18/2078 | 61/18723 | 7.27e-05 | 1.53e-03 | 18 |
| GO:003086517 | Esophagus | ESCC | cortical cytoskeleton organization | 44/8552 | 61/18723 | 2.50e-05 | 2.13e-04 | 44 |
| GO:003086610 | Esophagus | ESCC | cortical actin cytoskeleton organization | 28/8552 | 40/18723 | 1.61e-03 | 7.50e-03 | 28 |
| Page: 1 2 |
| 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 |
| EPB41L1 | SNV | Missense_Mutation | novel | c.2459N>G | p.Ser820Cys | p.S820C | Q9H4G0 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-3C-AALK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD |
| EPB41L1 | SNV | Missense_Mutation | c.334N>A | p.Glu112Lys | p.E112K | Q9H4G0 | protein_coding | deleterious(0.01) | possibly_damaging(0.882) | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
| EPB41L1 | SNV | Missense_Mutation | novel | c.1119C>G | p.Phe373Leu | p.F373L | Q9H4G0 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
| EPB41L1 | SNV | Missense_Mutation | rs145893462 | c.112G>A | p.Gly38Ser | p.G38S | Q9H4G0 | protein_coding | tolerated_low_confidence(0.89) | benign(0.003) | TCGA-BH-A0DD-01 | Breast | breast invasive carcinoma | Male | <65 | I/II | Chemotherapy | docetaxel | CR |
| EPB41L1 | SNV | Missense_Mutation | rs766032605 | c.1312N>T | p.Arg438Cys | p.R438C | Q9H4G0 | protein_coding | deleterious(0.02) | possibly_damaging(0.899) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
| EPB41L1 | SNV | Missense_Mutation | c.263N>G | p.Gln88Arg | p.Q88R | Q9H4G0 | protein_coding | deleterious(0.05) | probably_damaging(0.985) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| EPB41L1 | insertion | Frame_Shift_Ins | novel | c.1117_1118insACCC | p.Phe373TyrfsTer9 | p.F373Yfs*9 | Q9H4G0 | protein_coding | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | ||
| EPB41L1 | insertion | Frame_Shift_Ins | novel | c.1435_1436insAAGTATCTCCCCCTCTCGCTTC | p.Ile479LysfsTer42 | p.I479Kfs*42 | Q9H4G0 | protein_coding | TCGA-A8-A097-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
| EPB41L1 | insertion | Nonsense_Mutation | novel | c.462_463insCAGATGAGAATTTAGAGAGCCCTGGTCTGGCTGCTAGAG | p.Pro154_Ser155insGlnMetArgIleTerArgAlaLeuValTrpLeuLeuGlu | p.P154_S155insQMRI*RALVWLLE | Q9H4G0 | protein_coding | TCGA-BH-A0EE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | SD | ||
| EPB41L1 | SNV | Missense_Mutation | rs761484860 | c.2167N>A | p.Ala723Thr | p.A723T | Q9H4G0 | protein_coding | tolerated(1) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| Page: 1 2 3 4 5 6 7 8 9 10 11 |
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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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