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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:G2E3-AP4S1 (FusionGDB2 ID:HG55632TG11154) |
Fusion Gene Summary for G2E3-AP4S1 |
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Fusion gene information | Fusion gene name: G2E3-AP4S1 | Fusion gene ID: hg55632tg11154 | Hgene | Tgene | Gene symbol | G2E3 | AP4S1 | Gene ID | 55632 | 11154 |
Gene name | G2/M-phase specific E3 ubiquitin protein ligase | adaptor related protein complex 4 subunit sigma 1 | |
Synonyms | KIAA1333|PHF7B | AP47B|CLA20|CLAPS4|CPSQ6|SPG52 | |
Cytomap | ('G2E3')('AP4S1') 14q12 | 14q12 | |
Type of gene | protein-coding | protein-coding | |
Description | G2/M phase-specific E3 ubiquitin-protein ligaseG2/M phase-specific HECT-type E3 ubiquitin transferaseG2/M-phase specific E3 ubiquitin ligasePHD finger protein 7B | AP-4 complex subunit sigma-1AP-4 adapter complex subunit sigma-1AP-4 adaptor complex subunit sigma-1adaptor related protein complex 4 sigma 1 subunitclathrin-associated/assembly/adaptor protein, sigma 4sigma-4-adaptin | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | Q9Y587 | |
Ensembl transtripts involved in fusion gene | ENST00000544007, ENST00000206595, ENST00000438909, ENST00000553504, | ||
Fusion gene scores | * DoF score | 7 X 4 X 5=140 | 8 X 6 X 4=192 |
# samples | 7 | 8 | |
** MAII score | log2(7/140*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/192*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: G2E3 [Title/Abstract] AND AP4S1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | G2E3(31028478)-AP4S1(31535332), # samples:2 | ||
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 |
![]() * 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 | OV | TCGA-36-1581-01A | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
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Fusion Gene ORF analysis for G2E3-AP4S1 |
![]() * 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 |
3UTR-5UTR | ENST00000544007 | ENST00000216366 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
3UTR-5UTR | ENST00000544007 | ENST00000313566 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
3UTR-5UTR | ENST00000544007 | ENST00000334725 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
3UTR-5UTR | ENST00000544007 | ENST00000542754 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
3UTR-5UTR | ENST00000544007 | ENST00000554345 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
3UTR-5UTR | ENST00000544007 | ENST00000554609 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
5UTR-5UTR | ENST00000206595 | ENST00000216366 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
5UTR-5UTR | ENST00000206595 | ENST00000313566 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
5UTR-5UTR | ENST00000206595 | ENST00000334725 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
5UTR-5UTR | ENST00000206595 | ENST00000542754 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
5UTR-5UTR | ENST00000206595 | ENST00000554345 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
5UTR-5UTR | ENST00000206595 | ENST00000554609 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
5UTR-5UTR | ENST00000438909 | ENST00000216366 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
5UTR-5UTR | ENST00000438909 | ENST00000313566 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
5UTR-5UTR | ENST00000438909 | ENST00000334725 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
5UTR-5UTR | ENST00000438909 | ENST00000542754 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
5UTR-5UTR | ENST00000438909 | ENST00000554345 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
5UTR-5UTR | ENST00000438909 | ENST00000554609 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
intron-5UTR | ENST00000553504 | ENST00000216366 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
intron-5UTR | ENST00000553504 | ENST00000313566 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
intron-5UTR | ENST00000553504 | ENST00000334725 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
intron-5UTR | ENST00000553504 | ENST00000542754 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
intron-5UTR | ENST00000553504 | ENST00000554345 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
intron-5UTR | ENST00000553504 | ENST00000554609 | G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535332 | + |
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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 G2E3-AP4S1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535331 | + | 5.95E-06 | 0.99999404 |
G2E3 | chr14 | 31028478 | + | AP4S1 | chr14 | 31535331 | + | 5.95E-06 | 0.99999404 |
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Fusion Protein Features for G2E3-AP4S1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:31028478/:31535332) - 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 |
. | AP4S1 |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable). {ECO:0000269|PubMed:10066790, ECO:0000269|PubMed:10436028, ECO:0000305|PubMed:10066790, ECO:0000305|PubMed:10436028}. |
![]() * 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 G2E3-AP4S1 |
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Fusion Gene PPI Analysis for G2E3-AP4S1 |
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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 G2E3-AP4S1 |
![]() (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 G2E3-AP4S1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C3279743 | SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE | 2 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C0036572 | Seizures | 1 | GENOMICS_ENGLAND | |
Tgene | C0424605 | Developmental delay (disorder) | 1 | GENOMICS_ENGLAND | |
Tgene | C0557874 | Global developmental delay | 1 | GENOMICS_ENGLAND | |
Tgene | C4755264 | Severe intellectual disability and progressive spastic paraplegia | 1 | ORPHANET |