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Gene: MDM4 |
Gene summary for MDM4 |
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Gene information | Species | Human | Gene symbol | MDM4 | Gene ID | 4194 |
Gene name | MDM4 regulator of p53 | |
Gene Alias | BMFS6 | |
Cytomap | 1q32.1 | |
Gene Type | protein-coding | GO ID | GO:0000122 | UniProtAcc | O15151 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4194 | MDM4 | HTA11_3410_2000001011 | Human | Colorectum | AD | 2.40e-09 | -3.86e-01 | 0.0155 |
4194 | MDM4 | HTA11_696_2000001011 | Human | Colorectum | AD | 3.76e-03 | -2.83e-01 | -0.1464 |
4194 | MDM4 | HTA11_866_2000001011 | Human | Colorectum | AD | 6.84e-03 | -2.63e-01 | -0.1001 |
4194 | MDM4 | HTA11_9408_2000001011 | Human | Colorectum | AD | 2.92e-03 | -7.15e-01 | 0.0451 |
4194 | MDM4 | HTA11_10711_2000001011 | Human | Colorectum | AD | 3.47e-03 | -3.19e-01 | 0.0338 |
4194 | MDM4 | HTA11_7696_3000711011 | Human | Colorectum | AD | 1.45e-07 | -3.73e-01 | 0.0674 |
4194 | MDM4 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 4.32e-02 | -4.88e-01 | 0.2585 |
4194 | MDM4 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 2.00e-10 | -3.61e-01 | 0.3005 |
4194 | MDM4 | A001-C-207 | Human | Colorectum | FAP | 1.06e-03 | -1.67e-01 | 0.1278 |
4194 | MDM4 | A015-C-203 | Human | Colorectum | FAP | 3.83e-24 | -1.35e-02 | -0.1294 |
4194 | MDM4 | A015-C-204 | Human | Colorectum | FAP | 1.78e-04 | -2.87e-02 | -0.0228 |
4194 | MDM4 | A014-C-040 | Human | Colorectum | FAP | 1.62e-02 | -3.89e-02 | -0.1184 |
4194 | MDM4 | A002-C-201 | Human | Colorectum | FAP | 5.09e-11 | -6.20e-02 | 0.0324 |
4194 | MDM4 | A001-C-119 | Human | Colorectum | FAP | 4.92e-17 | 4.75e-01 | -0.1557 |
4194 | MDM4 | A001-C-108 | Human | Colorectum | FAP | 2.40e-11 | 2.53e-02 | -0.0272 |
4194 | MDM4 | A002-C-205 | Human | Colorectum | FAP | 8.47e-24 | 1.57e-01 | -0.1236 |
4194 | MDM4 | A001-C-104 | Human | Colorectum | FAP | 3.98e-02 | 5.90e-02 | 0.0184 |
4194 | MDM4 | A015-C-006 | Human | Colorectum | FAP | 6.21e-14 | 1.02e-01 | -0.0994 |
4194 | MDM4 | A015-C-106 | Human | Colorectum | FAP | 2.48e-09 | -9.06e-02 | -0.0511 |
4194 | MDM4 | A002-C-114 | Human | Colorectum | FAP | 1.68e-17 | -9.09e-02 | -0.1561 |
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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:000166617 | Prostate | BPH | response to hypoxia | 92/3107 | 307/18723 | 3.29e-09 | 1.27e-07 | 92 |
GO:000989517 | Prostate | BPH | negative regulation of catabolic process | 94/3107 | 320/18723 | 6.79e-09 | 2.38e-07 | 94 |
GO:004217717 | Prostate | BPH | negative regulation of protein catabolic process | 46/3107 | 121/18723 | 1.22e-08 | 3.99e-07 | 46 |
GO:003033016 | Prostate | BPH | DNA damage response, signal transduction by p53 class mediator | 30/3107 | 72/18723 | 4.09e-07 | 8.44e-06 | 30 |
GO:007145315 | Prostate | BPH | cellular response to oxygen levels | 56/3107 | 177/18723 | 5.50e-07 | 1.09e-05 | 56 |
GO:003629415 | Prostate | BPH | cellular response to decreased oxygen levels | 51/3107 | 161/18723 | 1.66e-06 | 2.79e-05 | 51 |
GO:00714568 | Prostate | BPH | cellular response to hypoxia | 47/3107 | 151/18723 | 7.09e-06 | 1.02e-04 | 47 |
GO:00427706 | Prostate | BPH | signal transduction in response to DNA damage | 49/3107 | 172/18723 | 6.21e-05 | 6.23e-04 | 49 |
GO:0003170 | Prostate | BPH | heart valve development | 23/3107 | 65/18723 | 1.87e-04 | 1.55e-03 | 23 |
GO:0003179 | Prostate | BPH | heart valve morphogenesis | 20/3107 | 55/18723 | 3.18e-04 | 2.43e-03 | 20 |
GO:00604854 | Prostate | BPH | mesenchyme development | 71/3107 | 291/18723 | 3.82e-04 | 2.81e-03 | 71 |
GO:00032813 | Prostate | BPH | ventricular septum development | 23/3107 | 71/18723 | 7.95e-04 | 5.21e-03 | 23 |
GO:0003231 | Prostate | BPH | cardiac ventricle development | 34/3107 | 123/18723 | 1.37e-03 | 8.20e-03 | 34 |
GO:00032792 | Prostate | BPH | cardiac septum development | 29/3107 | 103/18723 | 2.20e-03 | 1.22e-02 | 29 |
GO:00032052 | Prostate | BPH | cardiac chamber development | 41/3107 | 161/18723 | 2.63e-03 | 1.41e-02 | 41 |
GO:00030073 | Prostate | BPH | heart morphogenesis | 58/3107 | 246/18723 | 2.86e-03 | 1.50e-02 | 58 |
GO:0003181 | Prostate | BPH | atrioventricular valve morphogenesis | 9/3107 | 24/18723 | 1.14e-02 | 4.64e-02 | 9 |
GO:004217619 | Prostate | Tumor | regulation of protein catabolic process | 142/3246 | 391/18723 | 9.32e-20 | 5.79e-17 | 142 |
GO:003164719 | Prostate | Tumor | regulation of protein stability | 112/3246 | 298/18723 | 4.18e-17 | 1.18e-14 | 112 |
GO:005082119 | Prostate | Tumor | protein stabilization | 76/3246 | 191/18723 | 1.55e-13 | 1.73e-11 | 76 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0411510 | Esophagus | HGIN | p53 signaling pathway | 21/1383 | 74/8465 | 6.25e-03 | 4.25e-02 | 3.37e-02 | 21 |
hsa0411515 | Esophagus | HGIN | p53 signaling pathway | 21/1383 | 74/8465 | 6.25e-03 | 4.25e-02 | 3.37e-02 | 21 |
hsa0411524 | Esophagus | ESCC | p53 signaling pathway | 65/4205 | 74/8465 | 3.88e-12 | 6.50e-11 | 3.33e-11 | 65 |
hsa0411534 | Esophagus | ESCC | p53 signaling pathway | 65/4205 | 74/8465 | 3.88e-12 | 6.50e-11 | 3.33e-11 | 65 |
hsa041156 | Liver | HCC | p53 signaling pathway | 46/4020 | 74/8465 | 7.64e-03 | 2.08e-02 | 1.16e-02 | 46 |
hsa0411511 | Liver | HCC | p53 signaling pathway | 46/4020 | 74/8465 | 7.64e-03 | 2.08e-02 | 1.16e-02 | 46 |
hsa041159 | Oral cavity | OSCC | p53 signaling pathway | 57/3704 | 74/8465 | 4.99e-09 | 5.07e-08 | 2.58e-08 | 57 |
hsa0411514 | Oral cavity | OSCC | p53 signaling pathway | 57/3704 | 74/8465 | 4.99e-09 | 5.07e-08 | 2.58e-08 | 57 |
hsa041158 | Prostate | BPH | p53 signaling pathway | 30/1718 | 74/8465 | 5.15e-05 | 3.40e-04 | 2.10e-04 | 30 |
hsa0411513 | Prostate | BPH | p53 signaling pathway | 30/1718 | 74/8465 | 5.15e-05 | 3.40e-04 | 2.10e-04 | 30 |
hsa0411522 | Prostate | Tumor | p53 signaling pathway | 29/1791 | 74/8465 | 2.99e-04 | 1.65e-03 | 1.02e-03 | 29 |
hsa0411532 | Prostate | Tumor | p53 signaling pathway | 29/1791 | 74/8465 | 2.99e-04 | 1.65e-03 | 1.02e-03 | 29 |
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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 |
MDM4 | SNV | Missense_Mutation | c.421N>A | p.Glu141Lys | p.E141K | O15151 | protein_coding | tolerated(0.41) | benign(0.003) | TCGA-E9-A1N4-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
MDM4 | SNV | Missense_Mutation | c.394A>T | p.Ser132Cys | p.S132C | O15151 | protein_coding | deleterious(0.03) | possibly_damaging(0.695) | TCGA-GI-A2C8-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | Adriamycin | SD | |
MDM4 | deletion | Frame_Shift_Del | c.143_144delCT | p.Thr48SerfsTer2 | p.T48Sfs*2 | O15151 | protein_coding | TCGA-D8-A1JK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |||
MDM4 | SNV | Missense_Mutation | c.607N>A | p.Leu203Ile | p.L203I | O15151 | protein_coding | tolerated(0.16) | benign(0.181) | TCGA-A6-6782-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
MDM4 | SNV | Missense_Mutation | c.851N>C | p.Leu284Pro | p.L284P | O15151 | protein_coding | tolerated(0.26) | benign(0.02) | TCGA-AA-3833-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
MDM4 | SNV | Missense_Mutation | c.1111N>A | p.Val371Ile | p.V371I | O15151 | protein_coding | tolerated(0.79) | possibly_damaging(0.868) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
MDM4 | SNV | Missense_Mutation | c.671A>T | p.Gln224Leu | p.Q224L | O15151 | protein_coding | deleterious(0) | probably_damaging(0.972) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
MDM4 | SNV | Missense_Mutation | c.467C>A | p.Pro156His | p.P156H | O15151 | protein_coding | tolerated(0.1) | benign(0.003) | TCGA-WS-AB45-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
MDM4 | SNV | Missense_Mutation | novel | c.923A>C | p.Glu308Ala | p.E308A | O15151 | protein_coding | deleterious(0.01) | possibly_damaging(0.519) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
MDM4 | deletion | Frame_Shift_Del | c.842delA | p.Asn281MetfsTer10 | p.N281Mfs*10 | O15151 | protein_coding | TCGA-A6-6781-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | 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 |
4194 | MDM4 | CLINICALLY ACTIONABLE, TUMOR SUPPRESSOR, DRUGGABLE GENOME | NIVOLUMAB | NIVOLUMAB | 28351930 | |
4194 | MDM4 | CLINICALLY ACTIONABLE, TUMOR SUPPRESSOR, DRUGGABLE GENOME | ALRN-6924 | |||
4194 | MDM4 | CLINICALLY ACTIONABLE, TUMOR SUPPRESSOR, DRUGGABLE GENOME | docetaxel | DOCETAXEL | 24958282 | |
4194 | MDM4 | CLINICALLY ACTIONABLE, TUMOR SUPPRESSOR, DRUGGABLE GENOME | epirubicin | EPIRUBICIN | 24958282 | |
4194 | MDM4 | CLINICALLY ACTIONABLE, TUMOR SUPPRESSOR, DRUGGABLE GENOME | PEMBROLIZUMAB | PEMBROLIZUMAB | 28351930 | |
4194 | MDM4 | CLINICALLY ACTIONABLE, TUMOR SUPPRESSOR, DRUGGABLE GENOME | ATEZOLIZUMAB | ATEZOLIZUMAB | 28351930 |
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