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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:MEN1-CDC42BPG (FusionGDB2 ID:52983) |
Fusion Gene Summary for MEN1-CDC42BPG |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MEN1-CDC42BPG | Fusion gene ID: 52983 | Hgene | Tgene | Gene symbol | MEN1 | CDC42BPG | Gene ID | 4221 | 55561 |
| Gene name | menin 1 | CDC42 binding protein kinase gamma | |
| Synonyms | MEAI|SCG2 | DMPK2|HSMDPKIN|KAPPA-200|MRCKG|MRCKgamma | |
| Cytomap | 11q13.1 | 11q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | menin | serine/threonine-protein kinase MRCK gammaCDC42 binding protein kinase gamma (DMPK-like)DMPK-like gammaMRCK gammamyotonic dystrophy kinase-related CDC42-binding kinase gammamyotonic dystrophy protein kinase like proteinmyotonic dystrophy protein kin | |
| Modification date | 20200320 | 20200313 | |
| UniProtAcc | O00255 | Q6DT37 | |
| Ensembl transtripts involved in fusion gene | ENST00000312049, ENST00000315422, ENST00000337652, ENST00000377313, ENST00000377321, ENST00000377326, ENST00000394374, ENST00000394376, ENST00000443283, ENST00000478548, ENST00000377316, | ENST00000491280, ENST00000342711, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 5 X 5 X 5=125 |
| # samples | 3 | 5 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/125*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MEN1 [Title/Abstract] AND CDC42BPG [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | MEN1(64572506)-CDC42BPG(64608120), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | MEN1-CDC42BPG seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. MEN1-CDC42BPG seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. MEN1-CDC42BPG seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. MEN1-CDC42BPG seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. MEN1-CDC42BPG seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. MEN1-CDC42BPG seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF. | ||
| * 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 | MEN1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 9989505|12837246|23784080 |
| Hgene | MEN1 | GO:0000165 | MAPK cascade | 12226747 |
| Hgene | MEN1 | GO:0001933 | negative regulation of protein phosphorylation | 12226747 |
| Hgene | MEN1 | GO:0006974 | cellular response to DNA damage stimulus | 16690369 |
| Hgene | MEN1 | GO:0008285 | negative regulation of cell proliferation | 15331604 |
| Hgene | MEN1 | GO:0009411 | response to UV | 16690369 |
| Hgene | MEN1 | GO:0010332 | response to gamma radiation | 12874027 |
| Hgene | MEN1 | GO:0032092 | positive regulation of protein binding | 20484083 |
| Hgene | MEN1 | GO:0043433 | negative regulation of DNA-binding transcription factor activity | 11526476|12226747 |
| Hgene | MEN1 | GO:0045786 | negative regulation of cell cycle | 15331604 |
| Hgene | MEN1 | GO:0045892 | negative regulation of transcription, DNA-templated | 12226747 |
| Hgene | MEN1 | GO:0046329 | negative regulation of JNK cascade | 12226747 |
| Tgene | CDC42BPG | GO:0006468 | protein phosphorylation | 15194684 |
| Fusion gene breakpoints across MEN1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across CDC42BPG (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | LIHC | TCGA-BC-A8YO-01A | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
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Fusion Gene ORF analysis for MEN1-CDC42BPG |
| 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 |
| 5CDS-intron | ENST00000312049 | ENST00000491280 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| 5CDS-intron | ENST00000315422 | ENST00000491280 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| 5CDS-intron | ENST00000337652 | ENST00000491280 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| 5CDS-intron | ENST00000377313 | ENST00000491280 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| 5CDS-intron | ENST00000377321 | ENST00000491280 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| 5CDS-intron | ENST00000377326 | ENST00000491280 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| 5CDS-intron | ENST00000394374 | ENST00000491280 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| 5CDS-intron | ENST00000394376 | ENST00000491280 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| 5CDS-intron | ENST00000443283 | ENST00000491280 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| 5UTR-3CDS | ENST00000478548 | ENST00000342711 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| 5UTR-intron | ENST00000478548 | ENST00000491280 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| Frame-shift | ENST00000312049 | ENST00000342711 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| Frame-shift | ENST00000394376 | ENST00000342711 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| Frame-shift | ENST00000443283 | ENST00000342711 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| In-frame | ENST00000315422 | ENST00000342711 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| In-frame | ENST00000337652 | ENST00000342711 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| In-frame | ENST00000377313 | ENST00000342711 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| In-frame | ENST00000377321 | ENST00000342711 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| In-frame | ENST00000377326 | ENST00000342711 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| In-frame | ENST00000394374 | ENST00000342711 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| intron-3CDS | ENST00000377316 | ENST00000342711 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| intron-intron | ENST00000377316 | ENST00000491280 | MEN1 | chr11 | 64572506 | - | CDC42BPG | chr11 | 64608120 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for MEN1-CDC42BPG |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
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| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for MEN1-CDC42BPG |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr11:64572506/chr11:64608120) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MEN1 | CDC42BPG |
| FUNCTION: Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the TERT promoter and represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA. Positively regulates HOXC8 and HOXC6 gene expression. May be involved in normal hematopoiesis through the activation of HOXA9 expression (By similarity). May be involved in DNA repair. {ECO:0000250|UniProtKB:O88559, ECO:0000269|PubMed:11274402, ECO:0000269|PubMed:11526476, ECO:0000269|PubMed:12837246, ECO:0000269|PubMed:12874027, ECO:0000269|PubMed:14992727, ECO:0000269|PubMed:22327296}. | FUNCTION: May act as a downstream effector of CDC42 in cytoskeletal reorganization. Contributes to the actomyosin contractility required for cell invasion, through the regulation of MYPT1 and thus MLC2 phosphorylation (By similarity). {ECO:0000250|UniProtKB:Q5VT25, ECO:0000269|PubMed:15194684}. |
| 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 |
| Tgene | CDC42BPG | chr11:64572506 | chr11:64608120 | ENST00000342711 | 2 | 37 | 406_678 | 112 | 1552.0 | Coiled coil | Ontology_term=ECO:0000255 | |
| Tgene | CDC42BPG | chr11:64572506 | chr11:64608120 | ENST00000342711 | 2 | 37 | 730_802 | 112 | 1552.0 | Coiled coil | Ontology_term=ECO:0000255 | |
| Tgene | CDC42BPG | chr11:64572506 | chr11:64608120 | ENST00000342711 | 2 | 37 | 1092_1366 | 112 | 1552.0 | Domain | CNH | |
| Tgene | CDC42BPG | chr11:64572506 | chr11:64608120 | ENST00000342711 | 2 | 37 | 1437_1450 | 112 | 1552.0 | Domain | CRIB | |
| Tgene | CDC42BPG | chr11:64572506 | chr11:64608120 | ENST00000342711 | 2 | 37 | 338_408 | 112 | 1552.0 | Domain | AGC-kinase C-terminal | |
| Tgene | CDC42BPG | chr11:64572506 | chr11:64608120 | ENST00000342711 | 2 | 37 | 947_1066 | 112 | 1552.0 | Domain | PH | |
| Tgene | CDC42BPG | chr11:64572506 | chr11:64608120 | ENST00000342711 | 2 | 37 | 878_927 | 112 | 1552.0 | Zinc finger | Phorbol-ester/DAG-type |
| - 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 |
| Tgene | CDC42BPG | chr11:64572506 | chr11:64608120 | ENST00000342711 | 2 | 37 | 71_337 | 112 | 1552.0 | Domain | Protein kinase | |
| Tgene | CDC42BPG | chr11:64572506 | chr11:64608120 | ENST00000342711 | 2 | 37 | 77_85 | 112 | 1552.0 | Nucleotide binding | ATP |
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Fusion Gene Sequence for MEN1-CDC42BPG |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for MEN1-CDC42BPG |
| 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 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| Hgene | MEN1 | chr11:64572506 | chr11:64608120 | ENST00000312049 | - | 9 | 10 | 219_395 | 450.0 | 611.0 | FANCD2 |
| Hgene | MEN1 | chr11:64572506 | chr11:64608120 | ENST00000315422 | - | 9 | 10 | 219_395 | 450.0 | 611.0 | FANCD2 |
| Hgene | MEN1 | chr11:64572506 | chr11:64608120 | ENST00000337652 | - | 9 | 10 | 219_395 | 455.0 | 616.0 | FANCD2 |
| Hgene | MEN1 | chr11:64572506 | chr11:64608120 | ENST00000377313 | - | 8 | 9 | 219_395 | 455.0 | 616.0 | FANCD2 |
| Hgene | MEN1 | chr11:64572506 | chr11:64608120 | ENST00000377321 | - | 9 | 10 | 219_395 | 415.0 | 576.0 | FANCD2 |
| Hgene | MEN1 | chr11:64572506 | chr11:64608120 | ENST00000377326 | - | 8 | 9 | 219_395 | 450.0 | 611.0 | FANCD2 |
| Hgene | MEN1 | chr11:64572506 | chr11:64608120 | ENST00000394374 | - | 9 | 10 | 219_395 | 455.0 | 616.0 | FANCD2 |
| Hgene | MEN1 | chr11:64572506 | chr11:64608120 | ENST00000394376 | - | 10 | 11 | 219_395 | 455.0 | 616.0 | FANCD2 |
| Hgene | MEN1 | chr11:64572506 | chr11:64608120 | ENST00000443283 | - | 9 | 10 | 219_395 | 455.0 | 616.0 | FANCD2 |
| - 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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Related Drugs for MEN1-CDC42BPG |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for MEN1-CDC42BPG |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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