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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:CSNK1G1-AP4E1 (FusionGDB2 ID:HG53944TG23431) |
Fusion Gene Summary for CSNK1G1-AP4E1 |
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Fusion gene information | Fusion gene name: CSNK1G1-AP4E1 | Fusion gene ID: hg53944tg23431 | Hgene | Tgene | Gene symbol | CSNK1G1 | AP4E1 | Gene ID | 53944 | 23431 |
Gene name | casein kinase 1 gamma 1 | adaptor related protein complex 4 subunit epsilon 1 | |
Synonyms | CK1gamma1 | CPSQ4|SPG51|STUT1 | |
Cytomap | ('CSNK1G1')('AP4E1') 15q22.31 | 15q21.2 | |
Type of gene | protein-coding | protein-coding | |
Description | casein kinase I isoform gamma-1 | AP-4 complex subunit epsilon-1AP-4 adaptor complex subunit epsilonadaptor related protein complex 4 epsilon 1 subunitadaptor-related protein complex AP-4 epsilonepsilon-adaptin | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q9HCP0 | Q9UPM8 | |
Ensembl transtripts involved in fusion gene | ENST00000303032, ENST00000303052, ENST00000607537, | ||
Fusion gene scores | * DoF score | 14 X 11 X 7=1078 | 2 X 2 X 2=8 |
# samples | 15 | 2 | |
** MAII score | log2(15/1078*10)=-2.84532277225662 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: CSNK1G1 [Title/Abstract] AND AP4E1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CSNK1G1(64648187)-AP4E1(51260460), # 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 | CSNK1G1 | GO:0018105 | peptidyl-serine phosphorylation | 25500533 |
![]() * 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 | KICH | TCGA-KL-8341-01A | CSNK1G1 | chr15 | 64648187 | - | AP4E1 | chr15 | 51260460 | + |
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Fusion Gene ORF analysis for CSNK1G1-AP4E1 |
![]() * 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 |
5UTR-3CDS | ENST00000303032 | ENST00000261842 | CSNK1G1 | chr15 | 64648187 | - | AP4E1 | chr15 | 51260460 | + |
5UTR-3CDS | ENST00000303032 | ENST00000560508 | CSNK1G1 | chr15 | 64648187 | - | AP4E1 | chr15 | 51260460 | + |
5UTR-3CDS | ENST00000303052 | ENST00000261842 | CSNK1G1 | chr15 | 64648187 | - | AP4E1 | chr15 | 51260460 | + |
5UTR-3CDS | ENST00000303052 | ENST00000560508 | CSNK1G1 | chr15 | 64648187 | - | AP4E1 | chr15 | 51260460 | + |
5UTR-3CDS | ENST00000607537 | ENST00000261842 | CSNK1G1 | chr15 | 64648187 | - | AP4E1 | chr15 | 51260460 | + |
5UTR-3CDS | ENST00000607537 | ENST00000560508 | CSNK1G1 | chr15 | 64648187 | - | AP4E1 | chr15 | 51260460 | + |
5UTR-intron | ENST00000303032 | ENST00000561397 | CSNK1G1 | chr15 | 64648187 | - | AP4E1 | chr15 | 51260460 | + |
5UTR-intron | ENST00000303052 | ENST00000561397 | CSNK1G1 | chr15 | 64648187 | - | AP4E1 | chr15 | 51260460 | + |
5UTR-intron | ENST00000607537 | ENST00000561397 | CSNK1G1 | chr15 | 64648187 | - | AP4E1 | chr15 | 51260460 | + |
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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 CSNK1G1-AP4E1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
CSNK1G1 | chr15 | 64648186 | - | AP4E1 | chr15 | 51260459 | + | 1.12E-07 | 0.9999999 |
CSNK1G1 | chr15 | 64648186 | - | AP4E1 | chr15 | 51260459 | + | 1.12E-07 | 0.9999999 |
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Fusion Protein Features for CSNK1G1-AP4E1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:64648187/:51260460) - 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 |
CSNK1G1 | AP4E1 |
FUNCTION: Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity). Phosphorylates CLSPN. {ECO:0000250, ECO:0000269|PubMed:21680713}. | 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 CSNK1G1-AP4E1 |
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Fusion Gene PPI Analysis for CSNK1G1-AP4E1 |
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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 CSNK1G1-AP4E1 |
![]() (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 CSNK1G1-AP4E1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C3151056 | SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE | 2 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C4755264 | Severe intellectual disability and progressive spastic paraplegia | 2 | ORPHANET | |
Tgene | C0020796 | Profound Mental Retardation | 1 | CTD_human | |
Tgene | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human | |
Tgene | C0917816 | Mental deficiency | 1 | CTD_human | |
Tgene | C3489627 | Stuttering, Familial Persistent 1 | 1 | CTD_human;UNIPROT | |
Tgene | C3714756 | Intellectual Disability | 1 | CTD_human |