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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for MDM4 |
 Gene summary |
| Gene information | Gene symbol | MDM4 | Gene ID | 4194 |
| Gene name | MDM4 regulator of p53 | |
| Synonyms | HDMX|MDMX|MRP1 | |
| Cytomap | 1q32.1 | |
| Type of gene | protein-coding | |
| Description | protein Mdm4MDM4 protein variant GMDM4 protein variant YMDM4, p53 regulatorMDM4-related protein 1Mdm4 p53 binding protein homologdouble minute 4, human homolog of; p53-binding proteinmdm2-like p53-binding proteinprotein Mdmx | |
| Modification date | 20200329 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| MDM4 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 9226370 |
| MDM4 | GO:0065003 | protein-containing complex assembly | 10608892 |
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Gene structures and expression levels for MDM4 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000198625
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000391947.6 | MDM4-205:protein_coding:MDM4 | 8.616547e+02 | 1.144313e+00 | 2.888778e-08 | 7.432681e-07 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MDM4 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_117149 | chr1 | 204532191:204532246:204537430:204537497:204538209:204538308 | 204537430:204537497 |
| exon_skip_126970 | chr1 | 204525519:204525596:204526360:204526434:204530684:204530817 | 204526360:204526434 |
| exon_skip_130704 | chr1 | 204530684:204530817:204532191:204532246:204538209:204538308 | 204532191:204532246 |
| exon_skip_132002 | chr1 | 204542789:204542944:204544535:204544684:204546797:204546832 | 204544535:204544684 |
| exon_skip_151695 | chr1 | 204526360:204526434:204530684:204530817:204532191:204532246 | 204530684:204530817 |
| exon_skip_181348 | chr1 | 204538221:204538308:204542784:204542944:204546797:204546832 | 204542784:204542944 |
| exon_skip_93735 | chr1 | 204532191:204532246:204537459:204537497:204538209:204538308 | 204537459:204537497 |
| exon_skip_94581 | chr1 | 204532191:204532246:204538209:204538308:204546797:204546877 | 204538209:204538308 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for MDM4 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000367182 | 204530684 | 204530817 | Frame-shift |
| ENST00000367182 | 204537430 | 204537497 | Frame-shift |
| ENST00000367182 | 204526360 | 204526434 | In-frame |
| ENST00000367182 | 204544535 | 204544684 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000367182 | 204537430 | 204537497 | Frame-shift |
| ENST00000367182 | 204544535 | 204544684 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000367182 | 204537430 | 204537497 | Frame-shift |
| ENST00000367182 | 204526360 | 204526434 | In-frame |
| ENST00000367182 | 204544535 | 204544684 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MDM4 |
p-ENSG00000198625_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000367182 | 10090 | 490 | 204526360 | 204526434 | 242 | 315 | 26 | 51 |
| ENST00000367182 | 10090 | 490 | 204544535 | 204544684 | 836 | 984 | 224 | 274 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000367182 | 10090 | 490 | 204544535 | 204544684 | 836 | 984 | 224 | 274 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000367182 | 10090 | 490 | 204526360 | 204526434 | 242 | 315 | 26 | 51 |
| ENST00000367182 | 10090 | 490 | 204544535 | 204544684 | 836 | 984 | 224 | 274 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| O15151 | 26 | 51 | 27 | 352 | Alternative sequence | ID=VSP_042563;Note=In isoform HDMX211. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16266988;Dbxref=PMID:16266988 |
| O15151 | 26 | 51 | 27 | 29 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FEA |
| O15151 | 26 | 51 | 1 | 490 | Chain | ID=PRO_0000157336;Note=Protein Mdm4 |
| O15151 | 26 | 51 | 26 | 106 | Domain | Note=SWIB |
| O15151 | 26 | 51 | 31 | 39 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FEA |
| O15151 | 26 | 51 | 49 | 62 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FEA |
| O15151 | 224 | 274 | 27 | 352 | Alternative sequence | ID=VSP_042563;Note=In isoform HDMX211. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16266988;Dbxref=PMID:16266988 |
| O15151 | 224 | 274 | 109 | 490 | Alternative sequence | ID=VSP_035669;Note=In isoform 2. LATATTDAAQTLALAQDHSMDIPSQDQLKQSAEESSTSRKRTTEDDIPTLPTSEHKCIHSREDEDLIENLAQDETSRLDLGFEEWDVAGLPWWFLGNLRSNYTPRSNGSTDLQTNQDVGTAIVSDTTDDLWFLNESVSEQLGVGIKVEAADTEQTSEEVGKVSDKKVIEVGKNDDLEDSKSLSDDTDVEVTSEDEWQCTECKKFNSPSKRYCFRCWALRKDW |
| O15151 | 224 | 274 | 109 | 490 | Alternative sequence | ID=VSP_035670;Note=In isoform 3. LATATTDAAQTLALAQDHSMDIPSQDQLKQSAEESSTSRKRTTEDDIPTLPTSEHKCIHSREDEDLIENLAQDETSRLDLGFEEWDVAGLPWWFLGNLRSNYTPRSNGSTDLQTNQDVGTAIVSDTTDDLWFLNESVSEQLGVGIKVEAADTEQTSEEVGKVSDKKVIEVGKNDDLEDSKSLSDDTDVEVTSEDEWQCTECKKFNSPSKRYCFRCWALRKDW |
| O15151 | 224 | 274 | 225 | 274 | Alternative sequence | ID=VSP_043145;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O15151 | 224 | 274 | 1 | 490 | Chain | ID=PRO_0000157336;Note=Protein Mdm4 |
| O15151 | 224 | 274 | 243 | 308 | Compositional bias | Note=Asp/Glu-rich (acidic) |
| O15151 | 224 | 274 | 246 | 332 | Region | Note=Region II |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| O15151 | 224 | 274 | 27 | 352 | Alternative sequence | ID=VSP_042563;Note=In isoform HDMX211. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16266988;Dbxref=PMID:16266988 |
| O15151 | 224 | 274 | 109 | 490 | Alternative sequence | ID=VSP_035669;Note=In isoform 2. LATATTDAAQTLALAQDHSMDIPSQDQLKQSAEESSTSRKRTTEDDIPTLPTSEHKCIHSREDEDLIENLAQDETSRLDLGFEEWDVAGLPWWFLGNLRSNYTPRSNGSTDLQTNQDVGTAIVSDTTDDLWFLNESVSEQLGVGIKVEAADTEQTSEEVGKVSDKKVIEVGKNDDLEDSKSLSDDTDVEVTSEDEWQCTECKKFNSPSKRYCFRCWALRKDW |
| O15151 | 224 | 274 | 109 | 490 | Alternative sequence | ID=VSP_035670;Note=In isoform 3. LATATTDAAQTLALAQDHSMDIPSQDQLKQSAEESSTSRKRTTEDDIPTLPTSEHKCIHSREDEDLIENLAQDETSRLDLGFEEWDVAGLPWWFLGNLRSNYTPRSNGSTDLQTNQDVGTAIVSDTTDDLWFLNESVSEQLGVGIKVEAADTEQTSEEVGKVSDKKVIEVGKNDDLEDSKSLSDDTDVEVTSEDEWQCTECKKFNSPSKRYCFRCWALRKDW |
| O15151 | 224 | 274 | 225 | 274 | Alternative sequence | ID=VSP_043145;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O15151 | 224 | 274 | 1 | 490 | Chain | ID=PRO_0000157336;Note=Protein Mdm4 |
| O15151 | 224 | 274 | 243 | 308 | Compositional bias | Note=Asp/Glu-rich (acidic) |
| O15151 | 224 | 274 | 246 | 332 | Region | Note=Region II |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| O15151 | 26 | 51 | 27 | 352 | Alternative sequence | ID=VSP_042563;Note=In isoform HDMX211. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16266988;Dbxref=PMID:16266988 |
| O15151 | 26 | 51 | 27 | 29 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FEA |
| O15151 | 26 | 51 | 1 | 490 | Chain | ID=PRO_0000157336;Note=Protein Mdm4 |
| O15151 | 26 | 51 | 26 | 106 | Domain | Note=SWIB |
| O15151 | 26 | 51 | 31 | 39 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FEA |
| O15151 | 26 | 51 | 49 | 62 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3FEA |
| O15151 | 224 | 274 | 27 | 352 | Alternative sequence | ID=VSP_042563;Note=In isoform HDMX211. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16266988;Dbxref=PMID:16266988 |
| O15151 | 224 | 274 | 109 | 490 | Alternative sequence | ID=VSP_035669;Note=In isoform 2. LATATTDAAQTLALAQDHSMDIPSQDQLKQSAEESSTSRKRTTEDDIPTLPTSEHKCIHSREDEDLIENLAQDETSRLDLGFEEWDVAGLPWWFLGNLRSNYTPRSNGSTDLQTNQDVGTAIVSDTTDDLWFLNESVSEQLGVGIKVEAADTEQTSEEVGKVSDKKVIEVGKNDDLEDSKSLSDDTDVEVTSEDEWQCTECKKFNSPSKRYCFRCWALRKDW |
| O15151 | 224 | 274 | 109 | 490 | Alternative sequence | ID=VSP_035670;Note=In isoform 3. LATATTDAAQTLALAQDHSMDIPSQDQLKQSAEESSTSRKRTTEDDIPTLPTSEHKCIHSREDEDLIENLAQDETSRLDLGFEEWDVAGLPWWFLGNLRSNYTPRSNGSTDLQTNQDVGTAIVSDTTDDLWFLNESVSEQLGVGIKVEAADTEQTSEEVGKVSDKKVIEVGKNDDLEDSKSLSDDTDVEVTSEDEWQCTECKKFNSPSKRYCFRCWALRKDW |
| O15151 | 224 | 274 | 225 | 274 | Alternative sequence | ID=VSP_043145;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O15151 | 224 | 274 | 1 | 490 | Chain | ID=PRO_0000157336;Note=Protein Mdm4 |
| O15151 | 224 | 274 | 243 | 308 | Compositional bias | Note=Asp/Glu-rich (acidic) |
| O15151 | 224 | 274 | 246 | 332 | Region | Note=Region II |
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3'-UTR located exon skipping events that lost miRNA binding sites in MDM4 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for MDM4 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for MDM4 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MDM4 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for MDM4 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TARDBP | exon_skip_117149 | -4.574431e-01 | 1.328797e-07 |
| CB | SRSF4 | exon_skip_117149 | -4.710891e-01 | 4.944642e-08 |
| CB | HNRNPA2B1 | exon_skip_132002 | -4.027055e-01 | 2.246835e-07 |
| CB | SRSF4 | exon_skip_132002 | -4.098709e-01 | 1.300950e-07 |
| HCC | SRSF4 | exon_skip_117149 | -4.039290e-01 | 4.128533e-11 |
| IFG | TARDBP | exon_skip_117149 | -6.159646e-01 | 3.831726e-03 |
| IFG | SRSF4 | exon_skip_117149 | -4.559157e-01 | 4.335005e-02 |
| IFG | ELAVL1 | exon_skip_132002 | 4.122336e-01 | 3.637621e-02 |
| IFG | FUBP1 | exon_skip_132002 | 5.317813e-01 | 5.174306e-03 |
| IFG | HNRNPA0 | exon_skip_132002 | 4.027537e-01 | 4.135347e-02 |
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RelatedDrugs for MDM4 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MDM4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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