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Gene: EPB41L2 |
Gene summary for EPB41L2 |
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Gene information | Species | Human | Gene symbol | EPB41L2 | Gene ID | 2037 |
Gene name | erythrocyte membrane protein band 4.1 like 2 | |
Gene Alias | 4.1-G | |
Cytomap | 6q23.1-q23.2 | |
Gene Type | protein-coding | GO ID | GO:0006996 | UniProtAcc | I6L9B1 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
2037 | EPB41L2 | HTA11_3410_2000001011 | Human | Colorectum | AD | 8.19e-03 | 3.80e-01 | 0.0155 |
2037 | EPB41L2 | HTA11_2487_2000001011 | Human | Colorectum | SER | 6.96e-03 | 5.36e-01 | -0.1808 |
2037 | EPB41L2 | HTA11_1938_2000001011 | Human | Colorectum | AD | 1.97e-37 | 1.81e+00 | -0.0811 |
2037 | EPB41L2 | HTA11_78_2000001011 | Human | Colorectum | AD | 1.32e-14 | 9.13e-01 | -0.1088 |
2037 | EPB41L2 | HTA11_1391_2000001011 | Human | Colorectum | AD | 1.54e-16 | 1.74e+00 | -0.059 |
2037 | EPB41L2 | HTA11_866_3004761011 | Human | Colorectum | AD | 6.41e-05 | 5.20e-01 | 0.096 |
2037 | EPB41L2 | HTA11_6801_2000001011 | Human | Colorectum | SER | 1.37e-02 | 6.98e-01 | 0.0171 |
2037 | EPB41L2 | HTA11_10711_2000001011 | Human | Colorectum | AD | 5.82e-04 | 6.96e-01 | 0.0338 |
2037 | EPB41L2 | HTA11_7696_3000711011 | Human | Colorectum | AD | 3.85e-15 | 9.39e-01 | 0.0674 |
2037 | EPB41L2 | HTA11_6818_2000001021 | Human | Colorectum | AD | 2.01e-27 | 1.42e+00 | 0.0588 |
2037 | EPB41L2 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 7.92e-63 | 2.04e+00 | 0.294 |
2037 | EPB41L2 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 1.66e-16 | 1.13e+00 | 0.281 |
2037 | EPB41L2 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 3.98e-02 | 4.21e-01 | 0.2585 |
2037 | EPB41L2 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 3.20e-07 | -3.67e-01 | 0.3005 |
2037 | EPB41L2 | A002-C-010 | Human | Colorectum | FAP | 1.45e-03 | 4.29e-01 | 0.242 |
2037 | EPB41L2 | A001-C-207 | Human | Colorectum | FAP | 1.03e-20 | 8.09e-01 | 0.1278 |
2037 | EPB41L2 | A015-C-203 | Human | Colorectum | FAP | 6.53e-09 | 3.14e-02 | -0.1294 |
2037 | EPB41L2 | A015-C-204 | Human | Colorectum | FAP | 1.50e-10 | 5.37e-01 | -0.0228 |
2037 | EPB41L2 | A002-C-201 | Human | Colorectum | FAP | 6.71e-09 | 3.74e-01 | 0.0324 |
2037 | EPB41L2 | A002-C-203 | Human | Colorectum | FAP | 9.01e-26 | 7.84e-01 | 0.2786 |
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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:1990778 | Colorectum | AD | protein localization to cell periphery | 129/3918 | 333/18723 | 5.51e-14 | 1.15e-11 | 129 |
GO:1903829 | Colorectum | AD | positive regulation of cellular protein localization | 110/3918 | 276/18723 | 4.58e-13 | 8.44e-11 | 110 |
GO:1904375 | Colorectum | AD | regulation of protein localization to cell periphery | 54/3918 | 125/18723 | 1.52e-08 | 9.00e-07 | 54 |
GO:1904377 | Colorectum | AD | positive regulation of protein localization to cell periphery | 30/3918 | 69/18723 | 1.98e-05 | 4.05e-04 | 30 |
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:19038291 | Colorectum | SER | positive regulation of cellular protein localization | 86/2897 | 276/18723 | 3.61e-11 | 6.11e-09 | 86 |
GO:19907781 | Colorectum | SER | protein localization to cell periphery | 98/2897 | 333/18723 | 6.09e-11 | 9.57e-09 | 98 |
GO:19043751 | Colorectum | SER | regulation of protein localization to cell periphery | 40/2897 | 125/18723 | 2.85e-06 | 1.16e-04 | 40 |
GO:19043771 | Colorectum | SER | positive regulation of protein localization to cell periphery | 23/2897 | 69/18723 | 1.78e-04 | 3.30e-03 | 23 |
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:19907782 | Colorectum | MSS | protein localization to cell periphery | 120/3467 | 333/18723 | 2.02e-14 | 5.47e-12 | 120 |
GO:19038292 | Colorectum | MSS | positive regulation of cellular protein localization | 103/3467 | 276/18723 | 1.12e-13 | 2.67e-11 | 103 |
GO:19043752 | Colorectum | MSS | regulation of protein localization to cell periphery | 51/3467 | 125/18723 | 5.46e-09 | 3.55e-07 | 51 |
GO:19043772 | Colorectum | MSS | positive regulation of protein localization to cell periphery | 28/3467 | 69/18723 | 1.65e-05 | 3.64e-04 | 28 |
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 |
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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 |
EPB41L2 | deletion | Frame_Shift_Del | novel | c.56delN | p.Gly19GlufsTer12 | p.G19Efs*12 | O43491 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
EPB41L2 | SNV | Missense_Mutation | novel | c.1855G>A | p.Gly619Arg | p.G619R | O43491 | protein_coding | deleterious(0.04) | possibly_damaging(0.711) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
EPB41L2 | SNV | Missense_Mutation | novel | c.2986N>C | p.Glu996Gln | p.E996Q | O43491 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
EPB41L2 | SNV | Missense_Mutation | novel | c.2393N>T | p.Ser798Ile | p.S798I | O43491 | protein_coding | deleterious(0.04) | benign(0.001) | TCGA-VS-A9V1-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
EPB41L2 | SNV | Missense_Mutation | c.1559N>A | p.Arg520His | p.R520H | O43491 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
EPB41L2 | SNV | Missense_Mutation | c.382N>T | p.Asp128Tyr | p.D128Y | O43491 | protein_coding | deleterious(0) | possibly_damaging(0.646) | TCGA-AA-3819-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
EPB41L2 | SNV | Missense_Mutation | rs201062554 | c.1804G>A | p.Ala602Thr | p.A602T | O43491 | protein_coding | tolerated(0.49) | benign(0.003) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
EPB41L2 | SNV | Missense_Mutation | novel | c.118N>A | p.Asp40Asn | p.D40N | O43491 | protein_coding | tolerated(0.21) | benign(0.001) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EPB41L2 | SNV | Missense_Mutation | c.1220N>G | p.Asp407Gly | p.D407G | O43491 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-A01P-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD | |
EPB41L2 | SNV | Missense_Mutation | rs201590756 | c.1988N>A | p.Arg663His | p.R663H | O43491 | protein_coding | deleterious(0.02) | benign(0.095) | TCGA-AD-A5EJ-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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