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Gene: EPB42 |
Gene summary for EPB42 |
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Gene information | Species | Human | Gene symbol | EPB42 | Gene ID | 2038 |
Gene name | erythrocyte membrane protein band 4.2 | |
Gene Alias | PA | |
Cytomap | 15q15.2 | |
Gene Type | protein-coding | GO ID | GO:0000902 | UniProtAcc | P16452 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
2038 | EPB42 | HTA11_3410_2000001011 | Human | Colorectum | AD | 8.06e-10 | 2.18e-01 | 0.0155 |
2038 | EPB42 | HTA11_2487_2000001011 | Human | Colorectum | SER | 1.65e-07 | 2.41e-01 | -0.1808 |
2038 | EPB42 | HTA11_2951_2000001011 | Human | Colorectum | AD | 3.22e-05 | 3.63e-01 | 0.0216 |
2038 | EPB42 | HTA11_1938_2000001011 | Human | Colorectum | AD | 7.36e-22 | 6.16e-01 | -0.0811 |
2038 | EPB42 | HTA11_78_2000001011 | Human | Colorectum | AD | 2.62e-11 | 3.25e-01 | -0.1088 |
2038 | EPB42 | HTA11_347_2000001011 | Human | Colorectum | AD | 4.18e-21 | 4.49e-01 | -0.1954 |
2038 | EPB42 | HTA11_411_2000001011 | Human | Colorectum | SER | 1.86e-06 | 4.03e-01 | -0.2602 |
2038 | EPB42 | HTA11_2112_2000001011 | Human | Colorectum | SER | 1.71e-03 | 4.24e-01 | -0.2196 |
2038 | EPB42 | HTA11_3361_2000001011 | Human | Colorectum | AD | 1.09e-06 | 2.78e-01 | -0.1207 |
2038 | EPB42 | HTA11_83_2000001011 | Human | Colorectum | SER | 2.45e-18 | 5.53e-01 | -0.1526 |
2038 | EPB42 | HTA11_696_2000001011 | Human | Colorectum | AD | 1.44e-19 | 3.85e-01 | -0.1464 |
2038 | EPB42 | HTA11_866_2000001011 | Human | Colorectum | AD | 1.58e-13 | 2.90e-01 | -0.1001 |
2038 | EPB42 | HTA11_1391_2000001011 | Human | Colorectum | AD | 6.10e-28 | 6.11e-01 | -0.059 |
2038 | EPB42 | HTA11_2992_2000001011 | Human | Colorectum | SER | 2.44e-09 | 4.44e-01 | -0.1706 |
2038 | EPB42 | HTA11_5212_2000001011 | Human | Colorectum | AD | 2.28e-02 | 1.70e-01 | -0.2061 |
2038 | EPB42 | HTA11_5216_2000001011 | Human | Colorectum | SER | 2.17e-09 | 5.85e-01 | -0.1462 |
2038 | EPB42 | HTA11_546_2000001011 | Human | Colorectum | AD | 2.76e-07 | 3.47e-01 | -0.0842 |
2038 | EPB42 | HTA11_9341_2000001011 | Human | Colorectum | SER | 1.86e-06 | 3.68e-01 | -0.00410000000000005 |
2038 | EPB42 | HTA11_7862_2000001011 | Human | Colorectum | AD | 1.12e-06 | 3.39e-01 | -0.0179 |
2038 | EPB42 | HTA11_866_3004761011 | Human | Colorectum | AD | 3.54e-25 | 5.76e-01 | 0.096 |
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∗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 |
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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). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0022604 | Colorectum | AD | regulation of cell morphogenesis | 109/3918 | 309/18723 | 3.08e-09 | 2.07e-07 | 109 |
GO:0034101 | Colorectum | AD | erythrocyte homeostasis | 51/3918 | 129/18723 | 1.07e-06 | 3.59e-05 | 51 |
GO:0030099 | Colorectum | AD | myeloid cell differentiation | 119/3918 | 381/18723 | 1.24e-06 | 4.01e-05 | 119 |
GO:0055076 | Colorectum | AD | transition metal ion homeostasis | 53/3918 | 138/18723 | 1.89e-06 | 5.65e-05 | 53 |
GO:0002262 | Colorectum | AD | myeloid cell homeostasis | 57/3918 | 157/18723 | 6.17e-06 | 1.56e-04 | 57 |
GO:0008360 | Colorectum | AD | regulation of cell shape | 56/3918 | 154/18723 | 7.01e-06 | 1.73e-04 | 56 |
GO:0048872 | Colorectum | AD | homeostasis of number of cells | 87/3918 | 272/18723 | 1.16e-05 | 2.61e-04 | 87 |
GO:0030218 | Colorectum | AD | erythrocyte differentiation | 45/3918 | 120/18723 | 2.22e-05 | 4.39e-04 | 45 |
GO:0055072 | Colorectum | AD | iron ion homeostasis | 32/3918 | 85/18723 | 2.97e-04 | 3.60e-03 | 32 |
GO:00226041 | Colorectum | SER | regulation of cell morphogenesis | 89/2897 | 309/18723 | 1.51e-09 | 1.52e-07 | 89 |
GO:00550761 | Colorectum | SER | transition metal ion homeostasis | 41/2897 | 138/18723 | 1.66e-05 | 5.05e-04 | 41 |
GO:00341011 | Colorectum | SER | erythrocyte homeostasis | 39/2897 | 129/18723 | 1.70e-05 | 5.11e-04 | 39 |
GO:00022621 | Colorectum | SER | myeloid cell homeostasis | 44/2897 | 157/18723 | 4.09e-05 | 1.03e-03 | 44 |
GO:00083601 | Colorectum | SER | regulation of cell shape | 43/2897 | 154/18723 | 5.47e-05 | 1.30e-03 | 43 |
GO:00488721 | Colorectum | SER | homeostasis of number of cells | 65/2897 | 272/18723 | 1.70e-04 | 3.19e-03 | 65 |
GO:00302181 | Colorectum | SER | erythrocyte differentiation | 33/2897 | 120/18723 | 5.15e-04 | 7.30e-03 | 33 |
GO:00550721 | Colorectum | SER | iron ion homeostasis | 24/2897 | 85/18723 | 1.91e-03 | 1.93e-02 | 24 |
GO:00300991 | Colorectum | SER | myeloid cell differentiation | 80/2897 | 381/18723 | 2.28e-03 | 2.18e-02 | 80 |
GO:00226042 | Colorectum | MSS | regulation of cell morphogenesis | 103/3467 | 309/18723 | 2.70e-10 | 2.56e-08 | 103 |
GO:00341012 | Colorectum | MSS | erythrocyte homeostasis | 49/3467 | 129/18723 | 1.58e-07 | 7.19e-06 | 49 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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. |
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Somatic mutation of malignant transformation related genes |
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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 |
EPB42 | SNV | Missense_Mutation | novel | c.897G>T | p.Trp299Cys | p.W299C | P16452 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-CH-5769-01 | Prostate | prostate adenocarcinoma | Male | <65 | 9 | Unknown | Unknown | SD |
EPB42 | SNV | Missense_Mutation | c.327N>A | p.Phe109Leu | p.F109L | P16452 | protein_coding | tolerated(0.08) | benign(0.226) | TCGA-EJ-7314-01 | Prostate | prostate adenocarcinoma | Male | <65 | 7 | Unknown | Unknown | SD | |
EPB42 | SNV | Missense_Mutation | rs753777245 | c.962N>T | p.Thr321Met | p.T321M | P16452 | protein_coding | deleterious(0.04) | benign(0.11) | TCGA-EJ-A8FS-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 7 | Unknown | Unknown | PD |
EPB42 | SNV | Missense_Mutation | rs121917734 | c.929N>A | p.Arg310Gln | p.R310Q | P16452 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-B7-5816-01 | Stomach | stomach adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EPB42 | SNV | Missense_Mutation | rs765302713 | c.952G>A | p.Val318Met | p.V318M | P16452 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-BR-8487-01 | Stomach | stomach adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EPB42 | SNV | Missense_Mutation | c.221N>G | p.Tyr74Cys | p.Y74C | P16452 | protein_coding | tolerated(0.06) | benign(0.383) | TCGA-BR-8680-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | CR | |
EPB42 | SNV | Missense_Mutation | rs368332995 | c.239G>A | p.Arg80His | p.R80H | P16452 | protein_coding | tolerated(1) | benign(0.005) | TCGA-CG-5721-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | SD |
EPB42 | SNV | Missense_Mutation | c.2003G>A | p.Arg668Lys | p.R668K | P16452 | protein_coding | tolerated(0.06) | possibly_damaging(0.566) | TCGA-D7-6525-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Chemotherapy | PD | ||
EPB42 | SNV | Missense_Mutation | rs370874819 | c.728N>A | p.Arg243His | p.R243H | P16452 | protein_coding | tolerated(0.11) | benign(0.048) | TCGA-VQ-A8P2-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unspecific | Complete Response |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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