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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for MDM2 |
 Gene summary |
| Gene information | Gene symbol | MDM2 | Gene ID | 4193 |
| Gene name | MDM2 proto-oncogene | |
| Synonyms | ACTFS|HDMX|hdm2 | |
| Cytomap | 12q15 | |
| Type of gene | protein-coding | |
| Description | E3 ubiquitin-protein ligase Mdm2MDM2 oncogene, E3 ubiquitin protein ligaseMDM2 proto-oncogene, E3 ubiquitin protein ligaseMdm2, p53 E3 ubiquitin protein ligase homologMdm2, transformed 3T3 cell double minute 2, p53 binding proteindouble minute 2, hum | |
| Modification date | 20180527 | |
| UniProtAcc | Q00987 | |
| Context | PubMed: MDM2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| MDM2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 9271120|17310983 |
| MDM2 | GO:0006511 | ubiquitin-dependent protein catabolic process | 11278372|15314173|16173922|17310983 |
| MDM2 | GO:0016567 | protein ubiquitination | 9450543|15878855|19656744|20153724 |
| MDM2 | GO:0031648 | protein destabilization | 9529249|10360174|15314173 |
| MDM2 | GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 11278372 |
| MDM2 | GO:0034504 | protein localization to nucleus | 10360174 |
| MDM2 | GO:0042176 | regulation of protein catabolic process | 9153395 |
| MDM2 | GO:0043518 | negative regulation of DNA damage response, signal transduction by p53 class mediator | 9529249|10360174 |
| MDM2 | GO:0045184 | establishment of protein localization | 10360174 |
| MDM2 | GO:0045892 | negative regulation of transcription, DNA-templated | 9271120 |
| MDM2 | GO:0065003 | protein-containing complex assembly | 10608892|12915590 |
| MDM2 | GO:0071157 | negative regulation of cell cycle arrest | 9529249 |
| MDM2 | GO:0071480 | cellular response to gamma radiation | 16213212 |
| MDM2 | GO:0072717 | cellular response to actinomycin D | 15314173 |
| MDM2 | GO:1901797 | negative regulation of signal transduction by p53 class mediator | 16173922 |
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Exon skipping events across known transcript of Ensembl for MDM2 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for MDM2 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for MDM2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_85158 | 12 | 69203006:69203072:69207333:69207408:69210591:69210618 | 69207333:69207408 | ENSG00000135679.17 | ENST00000258148.7,ENST00000540352.1,ENST00000462284.1,ENST00000258149.5,ENST00000539479.1,ENST00000493419.1,ENST00000393415.3,ENST00000544561.1 |
| exon_skip_85159 | 12 | 69203006:69203072:69207333:69207408:69214104:69214154 | 69207333:69207408 | ENSG00000135679.17 | ENST00000546048.1,ENST00000537182.1,ENST00000536089.1,ENST00000311420.9 |
| exon_skip_85160 | 12 | 69203006:69203072:69207333:69207408:69218142:69218210 | 69207333:69207408 | ENSG00000135679.17 | ENST00000496959.1 |
| exon_skip_85161 | 12 | 69203006:69203072:69207333:69207408:69222550:69222639 | 69207333:69207408 | ENSG00000135679.17 | ENST00000542502.1 |
| exon_skip_85162 | 12 | 69203006:69203072:69207333:69207408:69229608:69229623 | 69207333:69207408 | ENSG00000135679.17 | ENST00000523991.1,ENST00000543323.1,ENST00000299252.4,ENST00000356290.4 |
| exon_skip_85163 | 12 | 69203006:69203072:69207333:69207408:69233053:69233629 | 69207333:69207408 | ENSG00000135679.17 | ENST00000393410.1 |
| exon_skip_85170 | 12 | 69203006:69203072:69210591:69210725:69214104:69214154 | 69210591:69210725 | ENSG00000135679.17 | ENST00000350057.5 |
| exon_skip_85175 | 12 | 69203006:69203072:69214104:69214154:69233053:69233629 | 69214104:69214154 | ENSG00000135679.17 | ENST00000478070.1 |
| exon_skip_85180 | 12 | 69203006:69203072:69229608:69229764:69233053:69233062 | 69229608:69229764 | ENSG00000135679.17 | ENST00000348801.2,ENST00000428863.2 |
| exon_skip_85184 | 12 | 69207381:69207408:69208382:69208469:69210591:69210618 | 69208382:69208469 | ENSG00000135679.17 | ENST00000393417.3 |
| exon_skip_85185 | 12 | 69207381:69207408:69209407:69209500:69210591:69210618 | 69209407:69209500 | ENSG00000135679.17 | ENST00000393416.2 |
| exon_skip_85187 | 12 | 69207381:69207408:69210591:69210725:69214104:69214154 | 69210591:69210725 | ENSG00000135679.17 | ENST00000258148.7,ENST00000540352.1,ENST00000462284.1,ENST00000258149.5,ENST00000539479.1,ENST00000393415.3,ENST00000471946.1 |
| exon_skip_85191 | 12 | 69207381:69207408:69214104:69214154:69218142:69218210 | 69214104:69214154 | ENSG00000135679.17 | ENST00000546048.1,ENST00000537182.1,ENST00000536089.1,ENST00000311420.9 |
| exon_skip_85196 | 12 | 69207381:69207408:69222550:69222711:69229608:69229623 | 69222550:69222711 | ENSG00000135679.17 | ENST00000542502.1 |
| exon_skip_85198 | 12 | 69207338:69207408:69229608:69229764:69233053:69233629 | 69229608:69229764 | ENSG00000135679.17 | ENST00000543323.1 |
| exon_skip_85200 | 12 | 69210591:69210725:69214104:69214154:69218142:69218210 | 69214104:69214154 | ENSG00000135679.17 | ENST00000350057.5,ENST00000540352.1,ENST00000462284.1,ENST00000539479.1,ENST00000393415.3,ENST00000393417.3,ENST00000393416.2 |
| exon_skip_85201 | 12 | 69210591:69210725:69214104:69214154:69222550:69222639 | 69214104:69214154 | ENSG00000135679.17 | ENST00000258148.7,ENST00000258149.5 |
| exon_skip_85203 | 12 | 69214104:69214154:69218142:69218210:69222550:69222711 | 69218142:69218210 | ENSG00000135679.17 | ENST00000537182.1 |
| exon_skip_85206 | 12 | 69218142:69218210:69218334:69218431:69222550:69222711 | 69218334:69218431 | ENSG00000135679.17 | ENST00000350057.5,ENST00000462284.1,ENST00000539479.1,ENST00000393415.3,ENST00000311420.9,ENST00000393417.3,ENST00000393416.2 |
| exon_skip_85207 | 12 | 69218334:69218431:69222550:69222711:69229608:69229623 | 69222550:69222711 | ENSG00000135679.17 | ENST00000350057.5,ENST00000462284.1,ENST00000539479.1,ENST00000393415.3,ENST00000311420.9,ENST00000393417.3 |
| exon_skip_85218 | 12 | 69229608:69229764:69230451:69230529:69233053:69233062 | 69230451:69230529 | ENSG00000135679.17 | ENST00000350057.5,ENST00000523991.1,ENST00000481186.1,ENST00000360430.2,ENST00000258148.7,ENST00000299252.4,ENST00000536089.1,ENST00000540352.1,ENST00000542502.1,ENST00000462284.1,ENST00000258149.5,ENST00000356290.4,ENST00000311420.9,ENST00000393417.3,ENS |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MDM2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_85158 | 12 | 69203006:69203072:69207333:69207408:69210591:69210618 | 69207333:69207408 | ENSG00000135679.17 | ENST00000462284.1,ENST00000258149.5,ENST00000493419.1,ENST00000258148.7,ENST00000539479.1,ENST00000393415.3,ENST00000544561.1,ENST00000540352.1 |
| exon_skip_85159 | 12 | 69203006:69203072:69207333:69207408:69214104:69214154 | 69207333:69207408 | ENSG00000135679.17 | ENST00000311420.9,ENST00000546048.1,ENST00000537182.1,ENST00000536089.1 |
| exon_skip_85160 | 12 | 69203006:69203072:69207333:69207408:69218142:69218210 | 69207333:69207408 | ENSG00000135679.17 | ENST00000496959.1 |
| exon_skip_85161 | 12 | 69203006:69203072:69207333:69207408:69222550:69222639 | 69207333:69207408 | ENSG00000135679.17 | ENST00000542502.1 |
| exon_skip_85162 | 12 | 69203006:69203072:69207333:69207408:69229608:69229623 | 69207333:69207408 | ENSG00000135679.17 | ENST00000356290.4,ENST00000523991.1,ENST00000543323.1,ENST00000299252.4 |
| exon_skip_85163 | 12 | 69203006:69203072:69207333:69207408:69233053:69233629 | 69207333:69207408 | ENSG00000135679.17 | ENST00000393410.1 |
| exon_skip_85170 | 12 | 69203006:69203072:69210591:69210725:69214104:69214154 | 69210591:69210725 | ENSG00000135679.17 | ENST00000350057.5 |
| exon_skip_85175 | 12 | 69203006:69203072:69214104:69214154:69233053:69233629 | 69214104:69214154 | ENSG00000135679.17 | ENST00000478070.1 |
| exon_skip_85180 | 12 | 69203006:69203072:69229608:69229764:69233053:69233062 | 69229608:69229764 | ENSG00000135679.17 | ENST00000428863.2,ENST00000348801.2 |
| exon_skip_85184 | 12 | 69207381:69207408:69208382:69208469:69210591:69210618 | 69208382:69208469 | ENSG00000135679.17 | ENST00000393417.3 |
| exon_skip_85185 | 12 | 69207381:69207408:69209407:69209500:69210591:69210618 | 69209407:69209500 | ENSG00000135679.17 | ENST00000393416.2 |
| exon_skip_85187 | 12 | 69207381:69207408:69210591:69210725:69214104:69214154 | 69210591:69210725 | ENSG00000135679.17 | ENST00000462284.1,ENST00000258149.5,ENST00000258148.7,ENST00000539479.1,ENST00000393415.3,ENST00000540352.1,ENST00000471946.1 |
| exon_skip_85191 | 12 | 69207381:69207408:69214104:69214154:69218142:69218210 | 69214104:69214154 | ENSG00000135679.17 | ENST00000311420.9,ENST00000546048.1,ENST00000537182.1,ENST00000536089.1 |
| exon_skip_85196 | 12 | 69207381:69207408:69222550:69222711:69229608:69229623 | 69222550:69222711 | ENSG00000135679.17 | ENST00000542502.1 |
| exon_skip_85198 | 12 | 69207338:69207408:69229608:69229764:69233053:69233629 | 69229608:69229764 | ENSG00000135679.17 | ENST00000543323.1 |
| exon_skip_85200 | 12 | 69210591:69210725:69214104:69214154:69218142:69218210 | 69214104:69214154 | ENSG00000135679.17 | ENST00000462284.1,ENST00000393417.3,ENST00000539479.1,ENST00000393415.3,ENST00000393416.2,ENST00000540352.1,ENST00000350057.5 |
| exon_skip_85201 | 12 | 69210591:69210725:69214104:69214154:69222550:69222639 | 69214104:69214154 | ENSG00000135679.17 | ENST00000258149.5,ENST00000258148.7 |
| exon_skip_85203 | 12 | 69214104:69214154:69218142:69218210:69222550:69222711 | 69218142:69218210 | ENSG00000135679.17 | ENST00000537182.1 |
| exon_skip_85206 | 12 | 69218142:69218210:69218334:69218431:69222550:69222711 | 69218334:69218431 | ENSG00000135679.17 | ENST00000462284.1,ENST00000311420.9,ENST00000393417.3,ENST00000539479.1,ENST00000393415.3,ENST00000393416.2,ENST00000350057.5 |
| exon_skip_85207 | 12 | 69218334:69218431:69222550:69222711:69229608:69229623 | 69222550:69222711 | ENSG00000135679.17 | ENST00000462284.1,ENST00000311420.9,ENST00000393417.3,ENST00000539479.1,ENST00000393415.3,ENST00000350057.5 |
| exon_skip_85218 | 12 | 69229608:69229764:69230451:69230529:69233053:69233062 | 69230451:69230529 | ENSG00000135679.17 | ENST00000462284.1,ENST00000258149.5,ENST00000356290.4,ENST00000540827.1,ENST00000311420.9,ENST00000393417.3,ENST00000258148.7,ENST00000523991.1,ENST00000299252.4,ENST00000481186.1,ENST00000360430.2,ENST00000540352.1,ENST00000542502.1,ENST00000536089.1,ENS |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for MDM2 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
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Infer the effects of exon skipping event on protein functional features for MDM2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| Loci of skipped exons in GTEx 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 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
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SNVs in the skipped exons for MDM2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_85206 | 69218335 | 69218431 | 69218362 | 69218362 | Frame_Shift_Del | A | - | p.K152fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_85206 | 69218335 | 69218431 | 69218379 | 69218379 | Frame_Shift_Del | T | - | p.H157fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_85196 exon_skip_85207 | 69222551 | 69222711 | 69222617 | 69222617 | Frame_Shift_Del | T | - | p.L197fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_85196 exon_skip_85207 | 69222551 | 69222711 | 69222668 | 69222668 | Frame_Shift_Del | A | - | p.E214fs |
| ACC | TCGA-OR-A5K4-01 | exon_skip_85170 exon_skip_85187 | 69210592 | 69210725 | 69210628 | 69210628 | Nonsense_Mutation | C | T | p.R71* |
| ACC | TCGA-OR-A5K4-01 | exon_skip_85170 exon_skip_85187 | 69210592 | 69210725 | 69210628 | 69210628 | Nonsense_Mutation | C | T | p.R71X |
| BLCA | TCGA-ZF-AA4X-01 | exon_skip_85198 exon_skip_85180 | 69229609 | 69229764 | 69229748 | 69229748 | Nonsense_Mutation | C | G | p.S275* |
| GBM | TCGA-12-0618-01 | exon_skip_85198 exon_skip_85180 | 69229609 | 69229764 | 69229607 | 69229607 | Splice_Site | A | G | p.D122_splice |
| CHOL | TCGA-YR-A95A-01 | exon_skip_85198 exon_skip_85180 | 69229609 | 69229764 | 69229765 | 69229765 | Splice_Site | G | T | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| HCC1187_BREAST | 69207334 | 69207408 | 69207356 | 69207363 | Frame_Shift_Del | TGAAGTTA | - | p.LKL35fs |
| SNUC5_LARGE_INTESTINE | 69207334 | 69207408 | 69207388 | 69207388 | Missense_Mutation | G | A | p.D46N |
| SKNEP1_BONE | 69210592 | 69210725 | 69210643 | 69210643 | Missense_Mutation | A | C | p.K45Q |
| DSH1_URINARY_TRACT | 69218143 | 69218210 | 69218184 | 69218184 | Missense_Mutation | C | G | p.H103D |
| AGS_STOMACH | 69222551 | 69222711 | 69222568 | 69222568 | Missense_Mutation | T | G | p.L150V |
| COV644_OVARY | 69222551 | 69222711 | 69222593 | 69222593 | Missense_Mutation | G | A | p.R158H |
| SNU1040_LARGE_INTESTINE | 69222551 | 69222711 | 69222593 | 69222593 | Missense_Mutation | G | A | p.R158H |
| 786O_KIDNEY | 69222551 | 69222711 | 69222611 | 69222611 | Missense_Mutation | T | C | p.I164T |
| RERFLCAD1_LUNG | 69222551 | 69222711 | 69222649 | 69222649 | Missense_Mutation | A | G | p.I177V |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69222551 | 69222711 | 69222656 | 69222656 | Missense_Mutation | A | G | p.E179G |
| SNU182_LIVER | 69229609 | 69229764 | 69229657 | 69229657 | Missense_Mutation | G | C | p.D214H |
| SNUC4_LARGE_INTESTINE | 69229609 | 69229764 | 69229736 | 69229736 | Missense_Mutation | G | A | p.G240E |
| HEC251_ENDOMETRIUM | 69230452 | 69230529 | 69230512 | 69230512 | Missense_Mutation | C | A | p.P270T |
| U178_CENTRAL_NERVOUS_SYSTEM | 69230452 | 69230529 | 69230519 | 69230519 | Missense_Mutation | T | G | p.I272S |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 69230452 | 69230529 | 69230521 | 69230521 | Missense_Mutation | T | C | p.S273P |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MDM2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MDM2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MDM2 |
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RelatedDrugs for MDM2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q00987 | DB01593 | Zinc | E3 ubiquitin-protein ligase Mdm2 | small molecule | approved|investigational | |
| Q00987 | DB14487 | Zinc acetate | E3 ubiquitin-protein ligase Mdm2 | small molecule | approved|investigational | |
| Q00987 | DB14533 | Zinc chloride | E3 ubiquitin-protein ligase Mdm2 | small molecule | approved|investigational |
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RelatedDiseases for MDM2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MDM2 | C0007131 | Non-Small Cell Lung Carcinoma | 2 | CTD_human |
| MDM2 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
| MDM2 | C0019693 | HIV Infections | 1 | CTD_human |
| MDM2 | C0021364 | Male infertility | 1 | CTD_human |
| MDM2 | C0025202 | melanoma | 1 | CTD_human |
| MDM2 | C0032927 | Precancerous Conditions | 1 | CTD_human |
| MDM2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| MDM2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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