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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:DAPK3-NFATC1 (FusionGDB2 ID:21368)

Fusion Gene Summary for DAPK3-NFATC1

check button Fusion gene summary
Fusion gene informationFusion gene name: DAPK3-NFATC1
Fusion gene ID: 21368
HgeneTgene
Gene symbol

DAPK3

NFATC1

Gene ID

1613

4772

Gene namedeath associated protein kinase 3nuclear factor of activated T cells 1
SynonymsDLK|ZIP|ZIPKNF-ATC|NF-ATc1.2|NFAT2|NFATc
Cytomap

19p13.3

18q23

Type of geneprotein-codingprotein-coding
Descriptiondeath-associated protein kinase 3DAP kinase 3DAP-like kinaseMYPT1 kinaseZIP-kinasezipper-interacting protein kinasenuclear factor of activated T-cells, cytoplasmic 1NFAT transcription complex cytosolic componentnuclear factor of activated T-cells 'c'nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
Modification date2020032920200313
UniProtAcc

O43293

O95644

Ensembl transtripts involved in fusion geneENST00000301264, ENST00000545797, 
ENST00000253506, ENST00000318065, 
ENST00000329101, ENST00000397790, 
ENST00000427363, ENST00000542384, 
ENST00000545796, ENST00000586434, 
ENST00000587635, ENST00000590172, 
ENST00000591814, ENST00000592223, 
Fusion gene scores* DoF score1 X 1 X 1=19 X 9 X 7=567
# samples 111
** MAII scorelog2(1/1*10)=3.32192809488736log2(11/567*10)=-2.36584521141757
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DAPK3 [Title/Abstract] AND NFATC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDAPK3(3964370)-NFATC1(77272307), # 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
HgeneDAPK3

GO:0006468

protein phosphorylation

10356987

HgeneDAPK3

GO:0006915

apoptotic process

10580117

HgeneDAPK3

GO:0017148

negative regulation of translation

18995835

HgeneDAPK3

GO:0035556

intracellular signal transduction

10356987

HgeneDAPK3

GO:0043065

positive regulation of apoptotic process

21487036

HgeneDAPK3

GO:0046777

protein autophosphorylation

18239682

HgeneDAPK3

GO:0051893

regulation of focal adhesion assembly

23454120

HgeneDAPK3

GO:0071346

cellular response to interferon-gamma

18995835

HgeneDAPK3

GO:2000249

regulation of actin cytoskeleton reorganization

23454120

TgeneNFATC1

GO:0033173

calcineurin-NFAT signaling cascade

14979875

TgeneNFATC1

GO:0035556

intracellular signal transduction

14749367

TgeneNFATC1

GO:0045893

positive regulation of transcription, DNA-templated

14749367|14979875

TgeneNFATC1

GO:0045944

positive regulation of transcription by RNA polymerase II

14979875

TgeneNFATC1

GO:1905064

negative regulation of vascular smooth muscle cell differentiation

23853098


check buttonFusion gene breakpoints across DAPK3 (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 NFATC1 (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
ChiTaRS5.0N/ABI045301DAPK3chr19

3964370

+NFATC1chr18

77272307

-


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Fusion Gene ORF analysis for DAPK3-NFATC1

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
intron-intronENST00000301264ENST00000253506DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000301264ENST00000318065DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000301264ENST00000329101DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000301264ENST00000397790DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000301264ENST00000427363DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000301264ENST00000542384DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000301264ENST00000545796DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000301264ENST00000586434DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000301264ENST00000587635DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000301264ENST00000590172DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000301264ENST00000591814DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000301264ENST00000592223DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000545797ENST00000253506DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000545797ENST00000318065DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000545797ENST00000329101DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000545797ENST00000397790DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000545797ENST00000427363DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000545797ENST00000542384DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000545797ENST00000545796DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000545797ENST00000586434DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000545797ENST00000587635DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000545797ENST00000590172DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000545797ENST00000591814DAPK3chr19

3964370

+NFATC1chr18

77272307

-
intron-intronENST00000545797ENST00000592223DAPK3chr19

3964370

+NFATC1chr18

77272307

-

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

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Fusion Genomic Features for DAPK3-NFATC1


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)

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.

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Fusion Protein Features for DAPK3-NFATC1


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/:3964370/:77272307)
- 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
DAPK3

O43293

NFATC1

O95644

FUNCTION: Serine/threonine kinase which is involved in the regulation of apoptosis, autophagy, transcription, translation and actin cytoskeleton reorganization. Involved in the regulation of smooth muscle contraction. Regulates both type I (caspase-dependent) apoptotic and type II (caspase-independent) autophagic cell deaths signal, depending on the cellular setting. Involved in regulation of starvation-induced autophagy. Regulates myosin phosphorylation in both smooth muscle and non-muscle cells. In smooth muscle, regulates myosin either directly by phosphorylating MYL12B and MYL9 or through inhibition of smooth muscle myosin phosphatase (SMPP1M) via phosphorylation of PPP1R12A; the inhibition of SMPP1M functions to enhance muscle responsiveness to Ca(2+) and promote a contractile state. Phosphorylates MYL12B in non-muscle cells leading to reorganization of actin cytoskeleton. Isoform 2 can phosphorylate myosin, PPP1R12A and MYL12B. Overexpression leads to condensation of actin stress fibers into thick bundles. Involved in actin filament focal adhesion dynamics. The function in both reorganization of actin cytoskeleton and focal adhesion dissolution is modulated by RhoD. Positively regulates canonical Wnt/beta-catenin signaling through interaction with NLK and TCF7L2. Phosphorylates RPL13A on 'Ser-77' upon interferon-gamma activation which is causing RPL13A release from the ribosome, RPL13A association with the GAIT complex and its subsequent involvement in transcript-selective translation inhibition. Enhances transcription from AR-responsive promoters in a hormone- and kinase-dependent manner. Involved in regulation of cell cycle progression and cell proliferation. May be a tumor suppressor. {ECO:0000269|PubMed:10356987, ECO:0000269|PubMed:11384979, ECO:0000269|PubMed:11781833, ECO:0000269|PubMed:12917339, ECO:0000269|PubMed:15096528, ECO:0000269|PubMed:15367680, ECO:0000269|PubMed:16219639, ECO:0000269|PubMed:17126281, ECO:0000269|PubMed:17158456, ECO:0000269|PubMed:18084323, ECO:0000269|PubMed:18995835, ECO:0000269|PubMed:21169990, ECO:0000269|PubMed:21408167, ECO:0000269|PubMed:21454679, ECO:0000269|PubMed:21487036, ECO:0000269|PubMed:23454120}.FUNCTION: Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2 or IL-4 gene transcription. Also controls gene expression in embryonic cardiac cells. Could regulate not only the activation and proliferation but also the differentiation and programmed death of T-lymphocytes as well as lymphoid and non-lymphoid cells (PubMed:10358178). Required for osteoclastogenesis and regulates many genes important for osteoclast differentiation and function (By similarity). {ECO:0000250|UniProtKB:O88942, ECO:0000269|PubMed:10358178}.

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


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Fusion Gene Sequence for DAPK3-NFATC1


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.

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Fusion Gene PPI Analysis for DAPK3-NFATC1


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


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Related Drugs for DAPK3-NFATC1


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

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Related Diseases for DAPK3-NFATC1


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