FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:APP-CSNK1G3 (FusionGDB2 ID:5667)

Fusion Gene Summary for APP-CSNK1G3

check button Fusion gene summary
Fusion gene informationFusion gene name: APP-CSNK1G3
Fusion gene ID: 5667
HgeneTgene
Gene symbol

APP

CSNK1G3

Gene ID

351

1456

Gene nameamyloid beta precursor proteincasein kinase 1 gamma 3
SynonymsAAA|ABETA|ABPP|AD1|APPI|CTFgamma|CVAP|PN-II|PN2|preA4CKI-gamma 3|CSNK1G3L
Cytomap

21q21.3

5q23.2

Type of geneprotein-codingprotein-coding
Descriptionamyloid-beta precursor proteinalzheimer disease amyloid proteinamyloid beta (A4) precursor proteinamyloid beta A4 proteinamyloid precursor proteinbeta-amyloid peptidebeta-amyloid peptide(1-40)beta-amyloid peptide(1-42)beta-amyloid precursor proteicasein kinase I isoform gamma-3casein kinase I
Modification date2020032920200313
UniProtAcc

P05067

Q9Y6M4

Ensembl transtripts involved in fusion geneENST00000346798, ENST00000348990, 
ENST00000354192, ENST00000357903, 
ENST00000358918, ENST00000359726, 
ENST00000439274, ENST00000440126, 
ENST00000448388, ENST00000474136, 
ENST00000508708, ENST00000345990, 
ENST00000395411, ENST00000395412, 
ENST00000360683, ENST00000361991, 
ENST00000510842, ENST00000511130, 
ENST00000512718, ENST00000521364, 
Fusion gene scores* DoF score31 X 25 X 12=93007 X 7 X 5=245
# samples 339
** MAII scorelog2(33/9300*10)=-4.81669278663694
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/245*10)=-1.4447848426729
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: APP [Title/Abstract] AND CSNK1G3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAPP(27347382)-CSNK1G3(122881110), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneAPP

GO:0001934

positive regulation of protein phosphorylation

11404397

HgeneAPP

GO:0008285

negative regulation of cell proliferation

22944668

HgeneAPP

GO:1905606

regulation of presynapse assembly

19726636

TgeneCSNK1G3

GO:0018105

peptidyl-serine phosphorylation

25500533


check buttonFusion gene breakpoints across APP (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CSNK1G3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-BR-A4J4APPchr21

27347382

-CSNK1G3chr5

122881110

+


Top

Fusion Gene ORF analysis for APP-CSNK1G3

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-3UTRENST00000346798ENST00000508708APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-3UTRENST00000348990ENST00000508708APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-3UTRENST00000354192ENST00000508708APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-3UTRENST00000357903ENST00000508708APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-3UTRENST00000358918ENST00000508708APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-3UTRENST00000359726ENST00000508708APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-3UTRENST00000439274ENST00000508708APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-3UTRENST00000440126ENST00000508708APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-3UTRENST00000448388ENST00000508708APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000346798ENST00000345990APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000346798ENST00000395411APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000346798ENST00000395412APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000348990ENST00000345990APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000348990ENST00000395411APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000348990ENST00000395412APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000354192ENST00000345990APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000354192ENST00000395411APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000354192ENST00000395412APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000357903ENST00000345990APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000357903ENST00000395411APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000357903ENST00000395412APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000358918ENST00000345990APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000358918ENST00000395411APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000358918ENST00000395412APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000359726ENST00000345990APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000359726ENST00000395411APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000359726ENST00000395412APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000439274ENST00000345990APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000439274ENST00000395411APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000439274ENST00000395412APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000440126ENST00000345990APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000440126ENST00000395411APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000440126ENST00000395412APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000448388ENST00000345990APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000448388ENST00000395411APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-5UTRENST00000448388ENST00000395412APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000346798ENST00000360683APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000346798ENST00000361991APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000346798ENST00000510842APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000346798ENST00000511130APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000346798ENST00000512718APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000346798ENST00000521364APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000348990ENST00000360683APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000348990ENST00000361991APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000348990ENST00000510842APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000348990ENST00000511130APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000348990ENST00000512718APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000348990ENST00000521364APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000354192ENST00000360683APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000354192ENST00000361991APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000354192ENST00000510842APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000354192ENST00000511130APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000354192ENST00000512718APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000354192ENST00000521364APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000357903ENST00000360683APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000357903ENST00000361991APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000357903ENST00000510842APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000357903ENST00000511130APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000357903ENST00000512718APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000357903ENST00000521364APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000358918ENST00000360683APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000358918ENST00000361991APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000358918ENST00000510842APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000358918ENST00000511130APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000358918ENST00000512718APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000358918ENST00000521364APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000359726ENST00000360683APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000359726ENST00000361991APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000359726ENST00000510842APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000359726ENST00000511130APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000359726ENST00000512718APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000359726ENST00000521364APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000439274ENST00000360683APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000439274ENST00000361991APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000439274ENST00000510842APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000439274ENST00000511130APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000439274ENST00000512718APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000439274ENST00000521364APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000440126ENST00000360683APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000440126ENST00000361991APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000440126ENST00000510842APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000440126ENST00000511130APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000440126ENST00000512718APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000440126ENST00000521364APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000448388ENST00000360683APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000448388ENST00000361991APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000448388ENST00000510842APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000448388ENST00000511130APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000448388ENST00000512718APPchr21

27347382

-CSNK1G3chr5

122881110

+
5CDS-intronENST00000448388ENST00000521364APPchr21

27347382

-CSNK1G3chr5

122881110

+
intron-3UTRENST00000474136ENST00000508708APPchr21

27347382

-CSNK1G3chr5

122881110

+
intron-5UTRENST00000474136ENST00000345990APPchr21

27347382

-CSNK1G3chr5

122881110

+
intron-5UTRENST00000474136ENST00000395411APPchr21

27347382

-CSNK1G3chr5

122881110

+
intron-5UTRENST00000474136ENST00000395412APPchr21

27347382

-CSNK1G3chr5

122881110

+
intron-intronENST00000474136ENST00000360683APPchr21

27347382

-CSNK1G3chr5

122881110

+
intron-intronENST00000474136ENST00000361991APPchr21

27347382

-CSNK1G3chr5

122881110

+
intron-intronENST00000474136ENST00000510842APPchr21

27347382

-CSNK1G3chr5

122881110

+
intron-intronENST00000474136ENST00000511130APPchr21

27347382

-CSNK1G3chr5

122881110

+
intron-intronENST00000474136ENST00000512718APPchr21

27347382

-CSNK1G3chr5

122881110

+
intron-intronENST00000474136ENST00000521364APPchr21

27347382

-CSNK1G3chr5

122881110

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

Top

Fusion Genomic Features for APP-CSNK1G3


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
APPchr2127347382-CSNK1G3chr5122881108+3.71E-060.9999963
APPchr2127347382-CSNK1G3chr5122881108+3.71E-060.9999963

check buttonDistribution 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.

check buttonDistribution 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.
genomic feature of top 1%

Top

Fusion Protein Features for APP-CSNK1G3


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:27347382/:122881110)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
APP

P05067

CSNK1G3

Q9Y6M4

FUNCTION: Functions as a cell surface receptor and performs physiological functions on the surface of neurons relevant to neurite growth, neuronal adhesion and axonogenesis. Interaction between APP molecules on neighboring cells promotes synaptogenesis (PubMed:25122912). Involved in cell mobility and transcription regulation through protein-protein interactions. Can promote transcription activation through binding to APBB1-KAT5 and inhibits Notch signaling through interaction with Numb. Couples to apoptosis-inducing pathways such as those mediated by G(O) and JIP. Inhibits G(o) alpha ATPase activity (By similarity). Acts as a kinesin I membrane receptor, mediating the axonal transport of beta-secretase and presenilin 1 (By similarity). By acting as a kinesin I membrane receptor, plays a role in axonal anterograde transport of cargo towards synapes in axons (PubMed:17062754, PubMed:23011729). Involved in copper homeostasis/oxidative stress through copper ion reduction. In vitro, copper-metallated APP induces neuronal death directly or is potentiated through Cu(2+)-mediated low-density lipoprotein oxidation. Can regulate neurite outgrowth through binding to components of the extracellular matrix such as heparin and collagen I and IV. The splice isoforms that contain the BPTI domain possess protease inhibitor activity. Induces a AGER-dependent pathway that involves activation of p38 MAPK, resulting in internalization of amyloid-beta peptide and leading to mitochondrial dysfunction in cultured cortical neurons. Provides Cu(2+) ions for GPC1 which are required for release of nitric oxide (NO) and subsequent degradation of the heparan sulfate chains on GPC1. {ECO:0000250, ECO:0000250|UniProtKB:P12023, ECO:0000269|PubMed:17062754, ECO:0000269|PubMed:23011729, ECO:0000269|PubMed:25122912}.; FUNCTION: Amyloid-beta peptides are lipophilic metal chelators with metal-reducing activity. Bind transient metals such as copper, zinc and iron. In vitro, can reduce Cu(2+) and Fe(3+) to Cu(+) and Fe(2+), respectively. Amyloid-beta protein 42 is a more effective reductant than amyloid-beta protein 40. Amyloid-beta peptides bind to lipoproteins and apolipoproteins E and J in the CSF and to HDL particles in plasma, inhibiting metal-catalyzed oxidation of lipoproteins. APP42-beta may activate mononuclear phagocytes in the brain and elicit inflammatory responses. Promotes both tau aggregation and TPK II-mediated phosphorylation. Interaction with overexpressed HADH2 leads to oxidative stress and neurotoxicity. Also binds GPC1 in lipid rafts.; FUNCTION: Appicans elicit adhesion of neural cells to the extracellular matrix and may regulate neurite outgrowth in the brain. {ECO:0000250}.; FUNCTION: The gamma-CTF peptides as well as the caspase-cleaved peptides, including C31, are potent enhancers of neuronal apoptosis.; FUNCTION: N-APP binds TNFRSF21 triggering caspase activation and degeneration of both neuronal cell bodies (via caspase-3) and axons (via caspase-6).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). {ECO:0000250}.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

Fusion Gene Sequence for APP-CSNK1G3


check button 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.

Top

Fusion Gene PPI Analysis for APP-CSNK1G3


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs for APP-CSNK1G3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for APP-CSNK1G3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource