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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:GBE1-CLK3 (FusionGDB2 ID:HG2632TG1198) |
Fusion Gene Summary for GBE1-CLK3 |
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Fusion gene information | Fusion gene name: GBE1-CLK3 | Fusion gene ID: hg2632tg1198 | Hgene | Tgene | Gene symbol | GBE1 | CLK3 | Gene ID | 2632 | 1198 |
Gene name | 1,4-alpha-glucan branching enzyme 1 | CDC like kinase 3 | |
Synonyms | APBD|GBE|GSD4 | PHCLK3|PHCLK3/152 | |
Cytomap | ('GBE1')('CLK3') 3p12.2 | 15q24.1 | |
Type of gene | protein-coding | protein-coding | |
Description | 1,4-alpha-glucan-branching enzymeamylo-(1,4 to 1,6) transglucosidaseamylo-(1,4 to 1,6) transglycosylasebrancher enzymeglucan (1,4-alpha-), branching enzyme 1glycogen branching enzyme | dual specificity protein kinase CLK3 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q04446 | P49761 | |
Ensembl transtripts involved in fusion gene | ENST00000429644, ENST00000477426, ENST00000489715, | ||
Fusion gene scores | * DoF score | 11 X 11 X 8=968 | 6 X 6 X 3=108 |
# samples | 13 | 6 | |
** MAII score | log2(13/968*10)=-2.89649542424614 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: GBE1 [Title/Abstract] AND CLK3 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | GBE1(81648443)-CLK3(74899404), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | GBE1 | GO:0005978 | glycogen biosynthetic process | 26199317 |
Tgene | CLK3 | GO:0006468 | protein phosphorylation | 9637771 |
Tgene | CLK3 | GO:0043484 | regulation of RNA splicing | 9637771 |
![]() * 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 |
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Fusion Gene ORF analysis for GBE1-CLK3 |
![]() * 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 |
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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) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for GBE1-CLK3 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for GBE1-CLK3 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:81648443/:74899404) - 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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Hgene | Tgene |
GBE1 | CLK3 |
FUNCTION: Required for normal glycogen accumulation (PubMed:8463281, PubMed:26199317, PubMed:8613547). The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable). {ECO:0000269|PubMed:26199317, ECO:0000269|PubMed:8463281, ECO:0000269|PubMed:8613547, ECO:0000305}. | FUNCTION: Dual specificity kinase acting on both serine/threonine and tyrosine-containing substrates. Phosphorylates serine- and arginine-rich (SR) proteins of the spliceosomal complex. May be a constituent of a network of regulatory mechanisms that enable SR proteins to control RNA splicing and can cause redistribution of SR proteins from speckles to a diffuse nucleoplasmic distribution. Phosphorylates SRSF1 and SRSF3. Regulates the alternative splicing of tissue factor (F3) pre-mRNA in endothelial cells. {ECO:0000269|PubMed:19168442, ECO:0000269|PubMed:9637771}. |
![]() * 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 GBE1-CLK3 |
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Fusion Gene PPI Analysis for GBE1-CLK3 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for GBE1-CLK3 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | CLK3 | P49761 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for GBE1-CLK3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | GBE1 | C0017923 | Glycogen Storage Disease Type IV | 7 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | GBE1 | C1849722 | Polyglucosan Body Disease, Adult Form | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | GBE1 | C0017919 | Glycogen Storage Disease | 1 | GENOMICS_ENGLAND |
Hgene | GBE1 | C1276035 | Pena-Shokeir syndrome type I | 1 | GENOMICS_ENGLAND |
Hgene | GBE1 | C1449563 | Cardiomyopathy, Familial Idiopathic | 1 | GENOMICS_ENGLAND |
Hgene | GBE1 | C1856309 | Fetal hydrops (in perinatal or congenital neuromuscular forms) | 1 | GENOMICS_ENGLAND |