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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:CDC42BPG-EHD1 (FusionGDB2 ID:14917) |
Fusion Gene Summary for CDC42BPG-EHD1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CDC42BPG-EHD1 | Fusion gene ID: 14917 | Hgene | Tgene | Gene symbol | CDC42BPG | EHD1 | Gene ID | 55561 | 10938 |
| Gene name | CDC42 binding protein kinase gamma | EH domain containing 1 | |
| Synonyms | DMPK2|HSMDPKIN|KAPPA-200|MRCKG|MRCKgamma | H-PAST|HPAST1|PAST|PAST1 | |
| Cytomap | 11q13.1 | 11q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 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 | EH domain-containing protein 1PAST homolog 1testilin | |
| Modification date | 20200313 | 20200329 | |
| UniProtAcc | Q6DT37 | Q9H4M9 | |
| Ensembl transtripts involved in fusion gene | ENST00000342711, ENST00000491280, | ENST00000320631, ENST00000359393, ENST00000488711, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 4 X 3 X 4=48 |
| # samples | 1 | 4 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CDC42BPG [Title/Abstract] AND EHD1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | CDC42BPG(64611882)-EHD1(64627808), # samples:3 | ||
| Anticipated loss of major functional domain due to fusion event. | CDC42BPG-EHD1 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF. CDC42BPG-EHD1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. CDC42BPG-EHD1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. CDC42BPG-EHD1 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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 | CDC42BPG | GO:0006468 | protein phosphorylation | 15194684 |
| Fusion gene breakpoints across CDC42BPG (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across EHD1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| 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 | BLCA | TCGA-2F-A9KT-01A | CDC42BPG | chr11 | 64611882 | - | EHD1 | chr11 | 64627808 | - |
| ChimerDB4 | BLCA | TCGA-2F-A9KT-01A | CDC42BPG | chr11 | 64611882 | - | EHD1 | chr11 | 64627808 | - |
| ChimerDB4 | BLCA | TCGA-2F-A9KT-01A | CDC42BPG | chr11 | 64611882 | - | EHD1 | chr11 | 64627808 | - |
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Fusion Gene ORF analysis for CDC42BPG-EHD1 |
| 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 | ENST00000342711 | ENST00000320631 | CDC42BPG | chr11 | 64611882 | - | EHD1 | chr11 | 64627808 | - |
| Frame-shift | ENST00000342711 | ENST00000359393 | CDC42BPG | chr11 | 64611882 | - | EHD1 | chr11 | 64627808 | - |
| 5CDS-intron | ENST00000342711 | ENST00000488711 | CDC42BPG | chr11 | 64611882 | - | EHD1 | chr11 | 64627808 | - |
| intron-3CDS | ENST00000491280 | ENST00000320631 | CDC42BPG | chr11 | 64611882 | - | EHD1 | chr11 | 64627808 | - |
| intron-3CDS | ENST00000491280 | ENST00000359393 | CDC42BPG | chr11 | 64611882 | - | EHD1 | chr11 | 64627808 | - |
| intron-intron | ENST00000491280 | ENST00000488711 | CDC42BPG | chr11 | 64611882 | - | EHD1 | chr11 | 64627808 | - |
| 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 CDC42BPG-EHD1 |
| 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. |
| 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 CDC42BPG-EHD1 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CDC42BPG | EHD1 |
| 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}. | FUNCTION: ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis. In vitro causes vesiculation of endocytic membranes (PubMed:24019528). Acts in early endocytic membrane fusion and membrane trafficking of recycling endosomes (PubMed:15020713, PubMed:17233914, PubMed:20801876). Recruited to endosomal membranes upon nerve growth factor stimulation, indirectly regulates neurite outgrowth (By similarity). Plays a role in myoblast fusion (By similarity). Involved in the unidirectional retrograde dendritic transport of endocytosed BACE1 and in efficient sorting of BACE1 to axons implicating a function in neuronal APP processing (By similarity). Plays a role in the formation of the ciliary vesicle (CV), an early step in cilium biogenesis. Proposed to be required for the fusion of distal appendage vesicles (DAVs) to form the CV by recruiting SNARE complex component SNAP29. Is required for recruitment of transition zone proteins CEP290, RPGRIP1L, TMEM67 and B9D2, and of IFT20 following DAV reorganization before Rab8-dependent ciliary membrane extension. Required for the loss of CCP110 form the mother centriole essential for the maturation of the basal body during ciliogenesis (PubMed:25686250). {ECO:0000250|UniProtKB:Q641Z6, ECO:0000250|UniProtKB:Q9WVK4, ECO:0000269|PubMed:15020713, ECO:0000269|PubMed:17233914, ECO:0000269|PubMed:20801876, ECO:0000269|PubMed:24019528, ECO:0000269|PubMed:25686250}. |
| 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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Fusion Gene Sequence for CDC42BPG-EHD1 |
| 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 CDC42BPG-EHD1 |
| 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 |
| - 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 CDC42BPG-EHD1 |
| 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 |
| Hgene | CDC42BPG | Q6DT37 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Hgene | CDC42BPG | Q6DT37 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for CDC42BPG-EHD1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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