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Fusion gene ID: 21382 |
FusionGeneSummary for MDM2_DIP2B |
Fusion gene summary |
Fusion gene information | Fusion gene name: MDM2_DIP2B | Fusion gene ID: 21382 | Hgene | Tgene | Gene symbol | MDM2 | DIP2B | Gene ID | 4193 | 57609 |
Gene name | MDM2 proto-oncogene | disco interacting protein 2 homolog B | |
Synonyms | ACTFS|HDMX|hdm2 | - | |
Cytomap | 12q15 | 12q13.12 | |
Type of gene | protein-coding | 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 | disco-interacting protein 2 homolog BDIP2 disco-interacting protein 2 homolog B | |
Modification date | 20180527 | 20180519 | |
UniProtAcc | Q00987 | Q9P265 | |
Ensembl transtripts involved in fusion gene | ENST00000462284, ENST00000356290, ENST00000540827, ENST00000258149, ENST00000428863, ENST00000393412, ENST00000258148, ENST00000544561, ENST00000393410, ENST00000393413, ENST00000517852, ENST00000545204, ENST00000350057, ENST00000360430, ENST00000299252, ENST00000348801, ENST00000478070, ENST00000544125, | ENST00000301180, | |
Fusion gene scores | * DoF score | 24 X 14 X 8=2688 | 4 X 3 X 3=36 |
# samples | 25 | 5 | |
** MAII score | log2(25/2688*10)=-3.42653313811667 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/36*10)=0.473931188332412 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: MDM2 [Title/Abstract] AND DIP2B [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | MDM2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 9271120|17310983 |
Hgene | MDM2 | GO:0006511 | ubiquitin-dependent protein catabolic process | 11278372|15314173|16173922|17310983 |
Hgene | MDM2 | GO:0016567 | protein ubiquitination | 9450543|15878855|19656744|20153724 |
Hgene | MDM2 | GO:0031648 | protein destabilization | 9529249|10360174|15314173 |
Hgene | MDM2 | GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 11278372 |
Hgene | MDM2 | GO:0034504 | protein localization to nucleus | 10360174 |
Hgene | MDM2 | GO:0042176 | regulation of protein catabolic process | 9153395 |
Hgene | MDM2 | GO:0043518 | negative regulation of DNA damage response, signal transduction by p53 class mediator | 9529249|10360174 |
Hgene | MDM2 | GO:0045184 | establishment of protein localization | 10360174 |
Hgene | MDM2 | GO:0045892 | negative regulation of transcription, DNA-templated | 9271120 |
Hgene | MDM2 | GO:0065003 | protein-containing complex assembly | 10608892|12915590 |
Hgene | MDM2 | GO:0071157 | negative regulation of cell cycle arrest | 9529249 |
Hgene | MDM2 | GO:0071480 | cellular response to gamma radiation | 16213212 |
Hgene | MDM2 | GO:0072717 | cellular response to actinomycin D | 15314173 |
Hgene | MDM2 | GO:1901797 | negative regulation of signal transduction by p53 class mediator | 16173922 |
Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | SARC | TCGA-DX-AB2G-01A | MDM2 | chr12 | 69207408 | + | DIP2B | chr12 | 51053977 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000462284 | ENST00000301180 | MDM2 | chr12 | 69207408 | + | DIP2B | chr12 | 51053977 | + |
Frame-shift | ENST00000356290 | ENST00000301180 | MDM2 | chr12 | 69207408 | + | DIP2B | chr12 | 51053977 | + |
intron-3CDS | ENST00000540827 | ENST00000301180 | MDM2 | chr12 | 69207408 | + | DIP2B | chr12 | 51053977 | + |
Frame-shift | ENST00000258149 | ENST00000301180 | MDM2 | chr12 | 69207408 | + | DIP2B | chr12 | 51053977 | + |
intron-3CDS | ENST00000428863 | ENST00000301180 | MDM2 | chr12 | 69207408 | + | DIP2B | chr12 | 51053977 | + |
intron-3CDS | ENST00000393412 | ENST00000301180 | MDM2 | chr12 | 69207408 | + | DIP2B | chr12 | 51053977 | + |
Frame-shift | ENST00000258148 | ENST00000301180 | MDM2 | chr12 | 69207408 | + | DIP2B | chr12 | 51053977 | + |
Frame-shift | ENST00000544561 | ENST00000301180 | MDM2 | chr12 | 69207408 | + | DIP2B | chr12 | 51053977 | + |
Frame-shift | ENST00000393410 | ENST00000301180 | MDM2 | chr12 | 69207408 | + | DIP2B | chr12 | 51053977 | + |
intron-3CDS | ENST00000393413 | ENST00000301180 | MDM2 | chr12 | 69207408 | + | DIP2B | chr12 | 51053977 | + |
Frame-shift | ENST00000517852 | ENST00000301180 | MDM2 | chr12 | 69207408 | + | DIP2B | chr12 | 51053977 | + |
intron-3CDS | ENST00000545204 | ENST00000301180 | MDM2 | chr12 | 69207408 | + | DIP2B | chr12 | 51053977 | + |
intron-3CDS | ENST00000350057 | ENST00000301180 | MDM2 | chr12 | 69207408 | + | DIP2B | chr12 | 51053977 | + |
intron-3CDS | ENST00000360430 | ENST00000301180 | MDM2 | chr12 | 69207408 | + | DIP2B | chr12 | 51053977 | + |
Frame-shift | ENST00000299252 | ENST00000301180 | MDM2 | chr12 | 69207408 | + | DIP2B | chr12 | 51053977 | + |
intron-3CDS | ENST00000348801 | ENST00000301180 | MDM2 | chr12 | 69207408 | + | DIP2B | chr12 | 51053977 | + |
intron-3CDS | ENST00000478070 | ENST00000301180 | MDM2 | chr12 | 69207408 | + | DIP2B | chr12 | 51053977 | + |
intron-3CDS | ENST00000544125 | ENST00000301180 | MDM2 | chr12 | 69207408 | + | DIP2B | chr12 | 51053977 | + |
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FusionProtFeatures for MDM2_DIP2B |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
MDM2 | DIP2B |
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for MDM2_DIP2B |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for MDM2_DIP2B |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
MDM2 | TP53, MDC1, CTBP1, CTBP2, TP73, PML, RPL11, RPL5, CDKN2A, NUMB, UBE2A, HIF1A, KAT5, HDAC1, EID1, MDM4, KAT2B, EP300, TBP, TAF1, MDM2, ESR1, ARRB2, ABL1, CCNG1, ARRB1, TSG101, RB1, MTBP, FKBP3, RYBP, RRM2B, RPL26, GNAS, FOXO4, IGF1R, DAXX, DHFR, GNL3, CCAR1, PSMD10, PSME3, PTK2, AR, PPM1D, USP7, COPS5, SFN, RBBP6, CDH1, CHEK2, YWHAQ, NCL, UBE2G2, UBE2U, UBE2Z, PYHIN1, BANP, DDX17, E2F1, TRIM28, UBC, GATA3, ATF3, HIST2H2BE, RPL23, YY1, AKT1, RAD23A, CDKN1A, NR3C1, UBE2I, HIST3H3, EHMT1, SUV39H1, RPS27L, RPS27, ADRB2, SIVA1, MTA1, RCHY1, UBE2D1, CASP2, RPS27A, RPS7, G3BP2, PSMD2, PAK1IP1, RPS6KB1, ZNF668, TP63, PCNA, USP10, PSMC1, PSMD4, PSMC3, PSMC5, PSMC6, PSMA7, PSMD1, RUNX3, GNL3L, TERT, APEX1, UIMC1, CREBBP, SOX4, UBE4B, TBRG1, BAIAP2L1, RFWD3, ERBB3, PA2G4, HEXIM1, CDK9, DYRK2, HSP90AA1, HSPA4, HSPA8, LAMP2, RPS3, USP2, TRIM13, XRCC6, GORAB, FOXO1, FOXO3, UCHL1, S100A1, S100A2, S100A4, S100A6, S100B, USP42, CUL1, BTRC, FBXW11, CSNK1D, RFWD2, SMURF1, NOTCH4, CSNK1A1, PDLIM7, SENP3, RN5S1@, PDE4D, NOTCH1, SNAI1, RASSF1, TRIM27, RFFL, RPS14, PPP2R4, TTF1, PSMB6, PSMA8, RASSF3, NR0B2, UBE2B, PIAS1, RANBP1, LATS1, RAD50, NBN, MRE11A, CUL4A, DTL, PIM1, GSK3B, PSMA3, ESR2, ADRBK1, AATF, HNRNPK, BUB1B, SUMO1, RASSF5, UBE2D2, POLH, NPM1, TCAP, CDK5RAP3, ARIH2, IRF2, RPS25, TPT1, ANG, RHOA, PDCD5, CDKN2AIP, LATS2, WWOX, MED1, ERCC6, ERCC8, DDB1, CUL4B, HIPK2, DHRS2, CASP3, ITCH, EEF1A1, DCD, TUBB, TUBB2A, KRT14, RPS20, GAPDH, TUBA1C, GSN, ERBB4, XIAP, HNF4A, PLK1, NME2, NEDD4, DAPK1, DAPK3, ATM, PBX1, UBE2D3, UBE3A, UBE2L3, UBE2E2, UBE2E3, RNF2, EGR1, PAK6, DLG4, IRF1, VCP, STRA13, GADD45A, RABL6, RPS26, RPL37, RPS15, RNF8, TRIM4, TRIM23, TRAF5, TRIM9, MKRN3, PHF7, RNF10, RNF126, UBE2K, LMO7, HLA-DMB, SETDB1, YY1AP1, NACA, ATF4, MYD88, RELA, SDHC, WT1, SORBS2, HRSP12, DNAJB4, GCAT, SHPK, POT1, ANKRD17, GLTSCR2, SESN2, RASSF6, JUND, EZR, RYR2, JUN, CLSTN1, APP, CLU, SREK1, SET, HSP90B1, CWC25, ZNF133, PKM, TAB1, RPL6, AURKA, NOC2L, JAK1, XPC, PGAM1, PGAM2, DNAJB1, ANAPC2, NLK, SNAI2, RBM38, FHIT, AGPS, ALDH16A1, DDX5, DHX9, DLAT, EDC4, EIF2AK1, ESYT1, GTF2I, HMHA1, HNRNPM, HNRNPU, HRNR, HSP90AB1, IARS, IFI16, IGF2BP3, ILF3, KARS, CCAR2, NEK9, OGDH, OGDHL, RARS, RBBP8, RECQL, SF3B1, SFPQ, TOP1, ZNF318, PER2, SIRT6, TSC22D3, RPS6, UBE2M, RAD54B, SMARCA2, ACACA, PTBP1, IYD, ACTB, HNRNPD, U2AF2, FUBP1, TFRC, EEF2, XPO1, KRT2, EIF3B, SND1, DCAF8, USO1, EFTUD2, EXOSC6, IPO7, SF3B3, DET1, UBE2N, RPL10A, DIRAS3, SURF2, RFPL2, CMSS1, PPARD, RPL22L1, IER2, MAGEA2, ZNF420, ELF4, ABL2, SRC, HCK, GTF2E2, ATP2A2, BRINP1, C19orf10, CANX, MS4A1, PDIA3, PPIB, RAB8A, RPS23, RUVBL2, SMARCA4, SMARCE1, SRSF11, TPR, UBTF, PPARG, VDR, FBXO31, TFIP11, SETD7, PPP1CA, RARA, DDX24, NAT10, CCND1, RLIM, IER3, FHL2, RPL23A, SUZ12, EZH2, EED, RRM1, RPL4, NOLC1, DDX42, MAP2, NUCKS1, RRP1, PDS5A, RPL36A, TP53RK, RPL15, NPIPB3, HMGN1, MAP1LC3A, PRDM2, KIAA1551, PBXIP1, SP1, SHARPIN, MAPKAPK2, USP15, USP26, FKBP1A, NGFR, SMG7, RSL1D1, SIRT1, SIRT7, SIRT2, SIRT3, KPNA1, KPNA6, MSI2, PHLDB3, CLPB, XAGE1B, ZNF550, YAF2, PDGFB, ARNTL2, RPS11, TSPYL6, HIST1H2BJ, ZNF764, MAK16, ZNF274, PPAN, RPL37A, CRTC2, CRTC3, TRIM25, CSNK2A1, CSNK2B, CSNK2A2, HEY1, RANBP2 | DIP2B | SQSTM1, RAD21, ELAVL1, AUP1, EFNB2, NTRK1, HAVCR2, CNKSR3, ARFGAP1, SELE, TRIM25 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for MDM2_DIP2B |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | MDM2 | Q00987 | DB01593 | Zinc | E3 ubiquitin-protein ligase Mdm2 | small molecule | approved|investigational |
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RelatedDiseases for MDM2_DIP2B |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MDM2 | C0007131 | Non-Small Cell Lung Carcinoma | 2 | CTD_human |
Hgene | MDM2 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
Hgene | MDM2 | C0019693 | HIV Infections | 1 | CTD_human |
Hgene | MDM2 | C0021364 | Male infertility | 1 | CTD_human |
Hgene | MDM2 | C0025202 | melanoma | 1 | CTD_human |
Hgene | MDM2 | C0032927 | Precancerous Conditions | 1 | CTD_human |
Hgene | MDM2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | MDM2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |