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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). |
Page: 1 2 3 4 5 6 7 8 9 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00300992 | Colorectum | MSS | myeloid cell differentiation | 110/3467 | 381/18723 | 4.48e-07 | 1.75e-05 | 110 |
GO:00022622 | Colorectum | MSS | myeloid cell homeostasis | 55/3467 | 157/18723 | 6.35e-07 | 2.34e-05 | 55 |
GO:00488722 | Colorectum | MSS | homeostasis of number of cells | 82/3467 | 272/18723 | 2.02e-06 | 6.28e-05 | 82 |
GO:00302182 | Colorectum | MSS | erythrocyte differentiation | 44/3467 | 120/18723 | 2.03e-06 | 6.28e-05 | 44 |
GO:00083602 | Colorectum | MSS | regulation of cell shape | 52/3467 | 154/18723 | 4.40e-06 | 1.24e-04 | 52 |
GO:00550762 | Colorectum | MSS | transition metal ion homeostasis | 45/3467 | 138/18723 | 4.99e-05 | 9.02e-04 | 45 |
GO:00550722 | Colorectum | MSS | iron ion homeostasis | 29/3467 | 85/18723 | 4.44e-04 | 5.32e-03 | 29 |
GO:00226043 | Colorectum | MSI-H | regulation of cell morphogenesis | 45/1319 | 309/18723 | 2.70e-06 | 1.54e-04 | 45 |
GO:00341013 | Colorectum | MSI-H | erythrocyte homeostasis | 24/1319 | 129/18723 | 1.03e-05 | 4.79e-04 | 24 |
GO:00300993 | Colorectum | MSI-H | myeloid cell differentiation | 50/1319 | 381/18723 | 1.52e-05 | 6.62e-04 | 50 |
GO:00022623 | Colorectum | MSI-H | myeloid cell homeostasis | 26/1319 | 157/18723 | 3.79e-05 | 1.43e-03 | 26 |
GO:00302183 | Colorectum | MSI-H | erythrocyte differentiation | 20/1319 | 120/18723 | 2.62e-04 | 6.65e-03 | 20 |
GO:00488723 | Colorectum | MSI-H | homeostasis of number of cells | 34/1319 | 272/18723 | 8.10e-04 | 1.49e-02 | 34 |
GO:00550763 | Colorectum | MSI-H | transition metal ion homeostasis | 20/1319 | 138/18723 | 1.62e-03 | 2.40e-02 | 20 |
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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 | rs116008388 | c.1463G>A | p.Arg488His | p.R488H | P16452 | protein_coding | tolerated(0.59) | benign(0) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
EPB42 | SNV | Missense_Mutation | c.80N>A | p.Ile27Asn | p.I27N | P16452 | protein_coding | tolerated_low_confidence(0.56) | benign(0.118) | TCGA-C8-A12U-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
EPB42 | insertion | In_Frame_Ins | novel | c.1362_1363insCCCAACCTTGCTCTCTCATCATTCAAGGGGAGAATTCAT | p.Gly454_Ser455insProAsnLeuAlaLeuSerSerPheLysGlyArgIleHis | p.G454_S455insPNLALSSFKGRIH | P16452 | protein_coding | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD | ||
EPB42 | insertion | In_Frame_Ins | novel | c.957_958insCCAGGCTGCATTTCCAGA | p.Val319_Thr320insProGlyCysIleSerArg | p.V319_T320insPGCISR | P16452 | protein_coding | TCGA-A7-A0CE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | ||
EPB42 | SNV | Missense_Mutation | rs755579126 | c.872N>A | p.Arg291Gln | p.R291Q | P16452 | protein_coding | tolerated(0.41) | possibly_damaging(0.563) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
EPB42 | SNV | Missense_Mutation | rs747441833 | c.1465N>A | p.Glu489Lys | p.E489K | P16452 | protein_coding | tolerated(0.81) | benign(0) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
EPB42 | SNV | Missense_Mutation | novel | c.788C>T | p.Thr263Ile | p.T263I | P16452 | protein_coding | tolerated(0.13) | benign(0.027) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
EPB42 | SNV | Missense_Mutation | c.287N>A | p.Gly96Glu | p.G96E | P16452 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-A6-5661-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
EPB42 | SNV | Missense_Mutation | rs146348439 | c.671N>A | p.Arg224His | p.R224H | P16452 | protein_coding | tolerated(0.12) | possibly_damaging(0.553) | TCGA-AA-3509-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EPB42 | SNV | Missense_Mutation | rs765302713 | c.952N>A | p.Val318Met | p.V318M | P16452 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-AA-3710-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
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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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