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Gene: MEF2D |
Gene summary for MEF2D |
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Gene information | Species | Human | Gene symbol | MEF2D | Gene ID | 4209 |
Gene name | myocyte enhancer factor 2D | |
Gene Alias | MEF2D | |
Cytomap | 1q22 | |
Gene Type | protein-coding | GO ID | GO:0001501 | UniProtAcc | Q14814 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4209 | MEF2D | HTA11_2487_2000001011 | Human | Colorectum | SER | 5.18e-08 | 1.99e-01 | -0.1808 |
4209 | MEF2D | HTA11_78_2000001011 | Human | Colorectum | AD | 8.70e-06 | 7.94e-02 | -0.1088 |
4209 | MEF2D | HTA11_347_2000001011 | Human | Colorectum | AD | 6.50e-11 | 2.32e-01 | -0.1954 |
4209 | MEF2D | HTA11_411_2000001011 | Human | Colorectum | SER | 7.95e-06 | 7.88e-01 | -0.2602 |
4209 | MEF2D | HTA11_2112_2000001011 | Human | Colorectum | SER | 1.87e-03 | 5.66e-01 | -0.2196 |
4209 | MEF2D | HTA11_3361_2000001011 | Human | Colorectum | AD | 4.90e-06 | 2.39e-01 | -0.1207 |
4209 | MEF2D | HTA11_696_2000001011 | Human | Colorectum | AD | 2.02e-02 | 2.31e-01 | -0.1464 |
4209 | MEF2D | HTA11_866_2000001011 | Human | Colorectum | AD | 1.86e-04 | 2.36e-01 | -0.1001 |
4209 | MEF2D | HTA11_1391_2000001011 | Human | Colorectum | AD | 8.91e-08 | 2.42e-01 | -0.059 |
4209 | MEF2D | HTA11_5212_2000001011 | Human | Colorectum | AD | 1.32e-02 | 2.42e-01 | -0.2061 |
4209 | MEF2D | HTA11_546_2000001011 | Human | Colorectum | AD | 1.59e-05 | 1.78e-01 | -0.0842 |
4209 | MEF2D | HTA11_866_3004761011 | Human | Colorectum | AD | 1.85e-04 | 8.18e-02 | 0.096 |
4209 | MEF2D | HTA11_99999971662_82457 | Human | Colorectum | MSS | 8.71e-03 | 2.67e-01 | 0.3859 |
4209 | MEF2D | HCC1_Meng | Human | Liver | HCC | 2.36e-11 | -2.49e-02 | 0.0246 |
4209 | MEF2D | HCC2_Meng | Human | Liver | HCC | 5.14e-13 | 4.60e-02 | 0.0107 |
4209 | MEF2D | HCC2 | Human | Liver | HCC | 3.25e-05 | 2.22e+00 | 0.5341 |
4209 | MEF2D | S014 | Human | Liver | HCC | 4.68e-06 | 2.81e-01 | 0.2254 |
4209 | MEF2D | S016 | Human | Liver | HCC | 2.84e-06 | 3.36e-01 | 0.2243 |
4209 | MEF2D | S027 | Human | Liver | HCC | 3.22e-08 | 7.30e-01 | 0.2446 |
4209 | MEF2D | S028 | Human | Liver | HCC | 4.14e-12 | 5.70e-01 | 0.2503 |
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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 |
Breast | Precancer | ![]() |
Breast | IDC | ![]() |
Breast | DCIS | ![]() |
Cervix | CC | ![]() |
Cervix | HSIL_HPV | ![]() |
∗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:0001649 | Colorectum | AD | osteoblast differentiation | 70/3918 | 229/18723 | 3.59e-04 | 4.18e-03 | 70 |
GO:0001503 | Colorectum | AD | ossification | 106/3918 | 408/18723 | 7.68e-03 | 4.64e-02 | 106 |
GO:00016491 | Colorectum | SER | osteoblast differentiation | 56/2897 | 229/18723 | 2.49e-04 | 4.21e-03 | 56 |
GO:00015031 | Colorectum | SER | ossification | 82/2897 | 408/18723 | 6.76e-03 | 4.78e-02 | 82 |
GO:00016492 | Colorectum | MSS | osteoblast differentiation | 64/3467 | 229/18723 | 2.91e-04 | 3.83e-03 | 64 |
GO:0048659 | Colorectum | MSS | smooth muscle cell proliferation | 49/3467 | 184/18723 | 4.08e-03 | 2.97e-02 | 49 |
GO:0048660 | Colorectum | MSS | regulation of smooth muscle cell proliferation | 48/3467 | 180/18723 | 4.32e-03 | 3.07e-02 | 48 |
GO:00015032 | Colorectum | MSS | ossification | 96/3467 | 408/18723 | 6.09e-03 | 4.07e-02 | 96 |
GO:0048661 | Colorectum | MSS | positive regulation of smooth muscle cell proliferation | 30/3467 | 104/18723 | 6.69e-03 | 4.38e-02 | 30 |
GO:000164911 | Liver | HCC | osteoblast differentiation | 115/7958 | 229/18723 | 1.08e-02 | 3.99e-02 | 115 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04928 | Colorectum | AD | Parathyroid hormone synthesis, secretion and action | 38/2092 | 106/8465 | 6.60e-03 | 2.77e-02 | 1.76e-02 | 38 |
hsa049281 | Colorectum | AD | Parathyroid hormone synthesis, secretion and action | 38/2092 | 106/8465 | 6.60e-03 | 2.77e-02 | 1.76e-02 | 38 |
hsa049282 | Colorectum | SER | Parathyroid hormone synthesis, secretion and action | 31/1580 | 106/8465 | 5.20e-03 | 3.28e-02 | 2.38e-02 | 31 |
hsa049283 | Colorectum | SER | Parathyroid hormone synthesis, secretion and action | 31/1580 | 106/8465 | 5.20e-03 | 3.28e-02 | 2.38e-02 | 31 |
hsa049284 | Colorectum | MSS | Parathyroid hormone synthesis, secretion and action | 37/1875 | 106/8465 | 1.72e-03 | 9.13e-03 | 5.59e-03 | 37 |
hsa04022 | Colorectum | MSS | cGMP-PKG signaling pathway | 51/1875 | 167/8465 | 6.83e-03 | 2.73e-02 | 1.67e-02 | 51 |
hsa049285 | Colorectum | MSS | Parathyroid hormone synthesis, secretion and action | 37/1875 | 106/8465 | 1.72e-03 | 9.13e-03 | 5.59e-03 | 37 |
hsa040221 | Colorectum | MSS | cGMP-PKG signaling pathway | 51/1875 | 167/8465 | 6.83e-03 | 2.73e-02 | 1.67e-02 | 51 |
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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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∗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 |
MEF2D | SNV | Missense_Mutation | c.1442G>C | p.Gly481Ala | p.G481A | Q14814 | protein_coding | tolerated(0.14) | benign(0.112) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
MEF2D | SNV | Missense_Mutation | c.679N>G | p.Ser227Gly | p.S227G | Q14814 | protein_coding | tolerated(0.06) | benign(0.003) | TCGA-EW-A1IZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD | |
MEF2D | deletion | Frame_Shift_Del | c.535delC | p.Leu179CysfsTer32 | p.L179Cfs*32 | Q14814 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |||
MEF2D | SNV | Missense_Mutation | c.805N>T | p.Asp269Tyr | p.D269Y | Q14814 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
MEF2D | SNV | Missense_Mutation | c.913N>T | p.His305Tyr | p.H305Y | Q14814 | protein_coding | deleterious(0) | benign(0.296) | TCGA-IR-A3LI-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
MEF2D | SNV | Missense_Mutation | novel | c.1516N>A | p.Glu506Lys | p.E506K | Q14814 | protein_coding | deleterious(0) | possibly_damaging(0.632) | TCGA-VS-A8EL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MEF2D | SNV | Missense_Mutation | novel | c.754C>G | p.Pro252Ala | p.P252A | Q14814 | protein_coding | deleterious(0) | benign(0.164) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MEF2D | SNV | Missense_Mutation | c.818T>C | p.Ile273Thr | p.I273T | Q14814 | protein_coding | deleterious(0) | possibly_damaging(0.694) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
MEF2D | SNV | Missense_Mutation | c.1310G>A | p.Ser437Asn | p.S437N | Q14814 | protein_coding | tolerated(1) | benign(0.027) | TCGA-AM-5821-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
MEF2D | SNV | Missense_Mutation | c.428N>T | p.Pro143Leu | p.P143L | Q14814 | protein_coding | deleterious(0.01) | probably_damaging(0.992) | TCGA-AZ-4684-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | folfox | PD |
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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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