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Gene: MDM2 |
Gene summary for MDM2 |
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Gene information | Species | Human | Gene symbol | MDM2 | Gene ID | 4193 |
Gene name | MDM2 proto-oncogene | |
Gene Alias | ACTFS | |
Cytomap | 12q15 | |
Gene Type | protein-coding | GO ID | GO:0000075 | UniProtAcc | A0A0A8KB75 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4193 | MDM2 | GSM4909291 | Human | Breast | IDC | 4.00e-35 | 1.02e+00 | 0.1753 |
4193 | MDM2 | GSM4909298 | Human | Breast | IDC | 1.99e-02 | 1.18e-01 | 0.1551 |
4193 | MDM2 | GSM4909319 | Human | Breast | IDC | 2.18e-03 | -9.07e-02 | 0.1563 |
4193 | MDM2 | GSM4909321 | Human | Breast | IDC | 7.69e-05 | 2.95e-01 | 0.1559 |
4193 | MDM2 | NCCBC2 | Human | Breast | DCIS | 1.34e-04 | 5.66e-01 | 0.1554 |
4193 | MDM2 | P3 | Human | Breast | IDC | 6.07e-08 | 8.21e-01 | 0.1542 |
4193 | MDM2 | DCIS2 | Human | Breast | DCIS | 3.34e-39 | 1.77e-01 | 0.0085 |
4193 | MDM2 | LZE4T | Human | Esophagus | ESCC | 1.15e-22 | 5.77e-01 | 0.0811 |
4193 | MDM2 | LZE7T | Human | Esophagus | ESCC | 3.46e-11 | 7.97e-01 | 0.0667 |
4193 | MDM2 | LZE8T | Human | Esophagus | ESCC | 3.13e-09 | 2.57e-01 | 0.067 |
4193 | MDM2 | LZE20T | Human | Esophagus | ESCC | 2.15e-04 | 1.80e-01 | 0.0662 |
4193 | MDM2 | LZE22D1 | Human | Esophagus | HGIN | 3.08e-03 | 2.49e-01 | 0.0595 |
4193 | MDM2 | LZE24T | Human | Esophagus | ESCC | 2.94e-15 | 5.07e-01 | 0.0596 |
4193 | MDM2 | LZE21T | Human | Esophagus | ESCC | 7.88e-03 | 4.10e-01 | 0.0655 |
4193 | MDM2 | LZE6T | Human | Esophagus | ESCC | 1.11e-02 | 2.06e-01 | 0.0845 |
4193 | MDM2 | P1T-E | Human | Esophagus | ESCC | 7.82e-08 | 5.82e-01 | 0.0875 |
4193 | MDM2 | P2T-E | Human | Esophagus | ESCC | 5.41e-56 | 1.09e+00 | 0.1177 |
4193 | MDM2 | P4T-E | Human | Esophagus | ESCC | 2.97e-18 | 4.90e-01 | 0.1323 |
4193 | MDM2 | P5T-E | Human | Esophagus | ESCC | 1.44e-16 | 3.41e-01 | 0.1327 |
4193 | MDM2 | P8T-E | Human | Esophagus | ESCC | 1.74e-21 | 4.87e-01 | 0.0889 |
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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:003166820 | Esophagus | HGIN | cellular response to extracellular stimulus | 56/2587 | 246/18723 | 9.05e-05 | 1.97e-03 | 56 |
GO:19019906 | Esophagus | HGIN | regulation of mitotic cell cycle phase transition | 65/2587 | 299/18723 | 1.12e-04 | 2.36e-03 | 65 |
GO:003629419 | Esophagus | HGIN | cellular response to decreased oxygen levels | 40/2587 | 161/18723 | 1.26e-04 | 2.57e-03 | 40 |
GO:00169254 | Esophagus | HGIN | protein sumoylation | 18/2587 | 53/18723 | 1.64e-04 | 3.19e-03 | 18 |
GO:20000456 | Esophagus | HGIN | regulation of G1/S transition of mitotic cell cycle | 36/2587 | 142/18723 | 1.74e-04 | 3.35e-03 | 36 |
GO:190179627 | Esophagus | HGIN | regulation of signal transduction by p53 class mediator | 26/2587 | 93/18723 | 2.60e-04 | 4.55e-03 | 26 |
GO:007145610 | Esophagus | HGIN | cellular response to hypoxia | 37/2587 | 151/18723 | 2.98e-04 | 5.07e-03 | 37 |
GO:199000010 | Esophagus | HGIN | amyloid fibril formation | 13/2587 | 34/18723 | 3.51e-04 | 5.65e-03 | 13 |
GO:00315718 | Esophagus | HGIN | mitotic G1 DNA damage checkpoint | 12/2587 | 30/18723 | 3.62e-04 | 5.68e-03 | 12 |
GO:004682520 | Esophagus | HGIN | regulation of protein export from nucleus | 12/2587 | 30/18723 | 3.62e-04 | 5.68e-03 | 12 |
GO:00000827 | Esophagus | HGIN | G1/S transition of mitotic cell cycle | 48/2587 | 214/18723 | 3.97e-04 | 6.07e-03 | 48 |
GO:00448198 | Esophagus | HGIN | mitotic G1/S transition checkpoint | 12/2587 | 31/18723 | 5.17e-04 | 7.46e-03 | 12 |
GO:007147919 | Esophagus | HGIN | cellular response to ionizing radiation | 21/2587 | 72/18723 | 5.31e-04 | 7.59e-03 | 21 |
GO:00448437 | Esophagus | HGIN | cell cycle G1/S phase transition | 52/2587 | 241/18723 | 6.19e-04 | 8.58e-03 | 52 |
GO:000931418 | Esophagus | HGIN | response to radiation | 88/2587 | 456/18723 | 6.26e-04 | 8.65e-03 | 88 |
GO:009730520 | Esophagus | HGIN | response to alcohol | 54/2587 | 253/18723 | 6.46e-04 | 8.87e-03 | 54 |
GO:004254220 | Esophagus | HGIN | response to hydrogen peroxide | 35/2587 | 146/18723 | 6.58e-04 | 9.01e-03 | 35 |
GO:19028065 | Esophagus | HGIN | regulation of cell cycle G1/S phase transition | 39/2587 | 168/18723 | 6.60e-04 | 9.03e-03 | 39 |
GO:00164857 | Esophagus | HGIN | protein processing | 49/2587 | 225/18723 | 7.04e-04 | 9.52e-03 | 49 |
GO:00714789 | Esophagus | HGIN | cellular response to radiation | 42/2587 | 186/18723 | 7.66e-04 | 1.00e-02 | 42 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0516922 | Breast | IDC | Epstein-Barr virus infection | 45/867 | 202/8465 | 3.16e-07 | 6.05e-06 | 4.52e-06 | 45 |
hsa0421824 | Breast | IDC | Cellular senescence | 35/867 | 156/8465 | 5.49e-06 | 7.43e-05 | 5.56e-05 | 35 |
hsa0520523 | Breast | IDC | Proteoglycans in cancer | 42/867 | 205/8465 | 7.69e-06 | 9.99e-05 | 7.48e-05 | 42 |
hsa0513124 | Breast | IDC | Shigellosis | 47/867 | 247/8465 | 1.78e-05 | 2.00e-04 | 1.49e-04 | 47 |
hsa0516324 | Breast | IDC | Human cytomegalovirus infection | 39/867 | 225/8465 | 6.66e-04 | 5.41e-03 | 4.05e-03 | 39 |
hsa0491916 | Breast | IDC | Thyroid hormone signaling pathway | 23/867 | 121/8465 | 2.45e-03 | 1.69e-02 | 1.27e-02 | 23 |
hsa0520322 | Breast | IDC | Viral carcinogenesis | 34/867 | 204/8465 | 2.82e-03 | 1.86e-02 | 1.39e-02 | 34 |
hsa052147 | Breast | IDC | Glioma | 16/867 | 75/8465 | 3.30e-03 | 2.10e-02 | 1.57e-02 | 16 |
hsa0521921 | Breast | IDC | Bladder cancer | 10/867 | 41/8465 | 7.07e-03 | 3.54e-02 | 2.65e-02 | 10 |
hsa0522010 | Breast | IDC | Chronic myeloid leukemia | 15/867 | 76/8465 | 9.24e-03 | 4.37e-02 | 3.27e-02 | 15 |
hsa0516932 | Breast | IDC | Epstein-Barr virus infection | 45/867 | 202/8465 | 3.16e-07 | 6.05e-06 | 4.52e-06 | 45 |
hsa0421834 | Breast | IDC | Cellular senescence | 35/867 | 156/8465 | 5.49e-06 | 7.43e-05 | 5.56e-05 | 35 |
hsa0520533 | Breast | IDC | Proteoglycans in cancer | 42/867 | 205/8465 | 7.69e-06 | 9.99e-05 | 7.48e-05 | 42 |
hsa0513134 | Breast | IDC | Shigellosis | 47/867 | 247/8465 | 1.78e-05 | 2.00e-04 | 1.49e-04 | 47 |
hsa0516334 | Breast | IDC | Human cytomegalovirus infection | 39/867 | 225/8465 | 6.66e-04 | 5.41e-03 | 4.05e-03 | 39 |
hsa0491917 | Breast | IDC | Thyroid hormone signaling pathway | 23/867 | 121/8465 | 2.45e-03 | 1.69e-02 | 1.27e-02 | 23 |
hsa0520332 | Breast | IDC | Viral carcinogenesis | 34/867 | 204/8465 | 2.82e-03 | 1.86e-02 | 1.39e-02 | 34 |
hsa0521413 | Breast | IDC | Glioma | 16/867 | 75/8465 | 3.30e-03 | 2.10e-02 | 1.57e-02 | 16 |
hsa0521931 | Breast | IDC | Bladder cancer | 10/867 | 41/8465 | 7.07e-03 | 3.54e-02 | 2.65e-02 | 10 |
hsa0522013 | Breast | IDC | Chronic myeloid leukemia | 15/867 | 76/8465 | 9.24e-03 | 4.37e-02 | 3.27e-02 | 15 |
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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 |
MDM2 | SNV | Missense_Mutation | novel | c.892G>A | p.Glu298Lys | p.E298K | Q00987 | protein_coding | deleterious(0.01) | benign(0.295) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
MDM2 | SNV | Missense_Mutation | rs773519801 | c.994C>T | p.Arg332Cys | p.R332C | Q00987 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A2-A0CL-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD |
MDM2 | SNV | Missense_Mutation | c.4N>C | p.Val2Leu | p.V2L | Q00987 | protein_coding | tolerated_low_confidence(0.33) | benign(0.176) | TCGA-E2-A158-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | arimidex | SD | |
MDM2 | SNV | Missense_Mutation | c.271T>G | p.Leu91Val | p.L91V | Q00987 | protein_coding | tolerated(0.65) | benign(0.013) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
MDM2 | SNV | Missense_Mutation | c.1038N>C | p.Glu346Asp | p.E346D | Q00987 | protein_coding | tolerated(0.51) | benign(0) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
MDM2 | SNV | Missense_Mutation | c.1483N>C | p.Tyr495His | p.Y495H | Q00987 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
MDM2 | SNV | Missense_Mutation | c.630N>T | p.Glu210Asp | p.E210D | Q00987 | protein_coding | tolerated(0.3) | possibly_damaging(0.718) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
MDM2 | SNV | Missense_Mutation | c.1370N>C | p.Val457Ala | p.V457A | Q00987 | protein_coding | deleterious(0) | possibly_damaging(0.616) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
MDM2 | SNV | Missense_Mutation | rs549965230 | c.781N>A | p.Asp261Asn | p.D261N | Q00987 | protein_coding | tolerated(0.52) | possibly_damaging(0.726) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
MDM2 | SNV | Missense_Mutation | c.1027G>A | p.Asp343Asn | p.D343N | Q00987 | protein_coding | tolerated(0.12) | benign(0.07) | TCGA-CM-5861-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | 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 |
4193 | MDM2 | CLINICALLY ACTIONABLE, ENZYME, TUMOR SUPPRESSOR, DRUGGABLE GENOME | RG7388 | IDASANUTLIN | ||
4193 | MDM2 | CLINICALLY ACTIONABLE, ENZYME, TUMOR SUPPRESSOR, DRUGGABLE GENOME | PD-98059 | CHEMBL35482 | 15385570 | |
4193 | MDM2 | CLINICALLY ACTIONABLE, ENZYME, TUMOR SUPPRESSOR, DRUGGABLE GENOME | DNDI1417132 | CHEMBL1492017 | ||
4193 | MDM2 | CLINICALLY ACTIONABLE, ENZYME, TUMOR SUPPRESSOR, DRUGGABLE GENOME | Platinum compounds | 29662106 | ||
4193 | MDM2 | CLINICALLY ACTIONABLE, ENZYME, TUMOR SUPPRESSOR, DRUGGABLE GENOME | RO5045337 | RO-5045337 | ||
4193 | MDM2 | CLINICALLY ACTIONABLE, ENZYME, TUMOR SUPPRESSOR, DRUGGABLE GENOME | HELENALIN | HELENALIN | ||
4193 | MDM2 | CLINICALLY ACTIONABLE, ENZYME, TUMOR SUPPRESSOR, DRUGGABLE GENOME | TCDD | 15459018 | ||
4193 | MDM2 | CLINICALLY ACTIONABLE, ENZYME, TUMOR SUPPRESSOR, DRUGGABLE GENOME | ANTIANGIOGENIC | 17138942 | ||
4193 | MDM2 | CLINICALLY ACTIONABLE, ENZYME, TUMOR SUPPRESSOR, DRUGGABLE GENOME | APG-115 | |||
4193 | MDM2 | CLINICALLY ACTIONABLE, ENZYME, TUMOR SUPPRESSOR, DRUGGABLE GENOME | PEMBROLIZUMAB | PEMBROLIZUMAB | 28351930 |
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