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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:FGF13-NLRP3

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: FGF13-NLRP3
FusionPDB ID: 30216
FusionGDB2.0 ID: 30216
HgeneTgene
Gene symbol

FGF13

NLRP3

Gene ID

2258

114548

Gene namefibroblast growth factor 13NLR family pyrin domain containing 3
SynonymsFGF-13|FGF2|FHF-2|FHF2|LINC00889AGTAVPRL|AII|AVP|C1orf7|CIAS1|CLR1.1|DFNA34|FCAS|FCAS1|FCU|KEFH|MWS|NALP3|PYPAF1
Cytomap

Xq26.3-q27.1

1q44

Type of geneprotein-codingprotein-coding
Descriptionfibroblast growth factor 13fibroblast growth factor homologous factor 2NACHT, LRR and PYD domains-containing protein 3NACHT domain-, leucine-rich repeat-, and PYD-containing protein 3NACHT, LRR and PYD containing protein 3PYRIN-containing APAF1-like protein 1caterpiller protein 1.1cold autoinflammatory syndrome 1 protei
Modification date2020031320200315
UniProtAcc

Q92913

Q96P20

Ensembl transtripts involved in fusion geneENST idsENST00000370603, ENST00000441825, 
ENST00000305414, ENST00000315930, 
ENST00000541469, 		ENST00000474792, 
ENST00000336119, ENST00000348069, 
ENST00000366496, ENST00000366497, 
ENST00000391827, ENST00000391828, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score10 X 5 X 4=2002 X 2 X 2=8
# samples 92
** MAII scorelog2(9/200*10)=-1.15200309344505
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context (manual curation of fusion genes in FusionPDB)

PubMed: FGF13 [Title/Abstract] AND NLRP3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)FGF13(137939674)-NLRP3(247611707), # samples:3
Anticipated loss of major functional domain due to fusion event.FGF13-NLRP3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
FGF13-NLRP3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
FGF13-NLRP3 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
FGF13-NLRP3 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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
HgeneFGF13

GO:0000165

MAPK cascade

12244047

TgeneNLRP3

GO:0032088

negative regulation of NF-kappaB transcription factor activity

14662828

TgeneNLRP3

GO:0043280

positive regulation of cysteine-type endopeptidase activity involved in apoptotic process

15030775

TgeneNLRP3

GO:0050718

positive regulation of interleukin-1 beta secretion

15030775

TgeneNLRP3

GO:0051092

positive regulation of NF-kappaB transcription factor activity

19158675

TgeneNLRP3

GO:0071222

cellular response to lipopolysaccharide

28847925

TgeneNLRP3

GO:1901223

negative regulation of NIK/NF-kappaB signaling

14662828


check buttonFusion gene breakpoints across FGF13 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across NLRP3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4BRCATCGA-A2-A04U-01AFGF13chrX

137939674

-NLRP3chr1

247611707

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000441825FGF13chrX137939674-ENST00000391827NLRP3chr1247611707+268168221169

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
ENST00000441825ENST00000391827FGF13chrX137939674-NLRP3chr1247611707+0.872201560.12779847

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>30216_30216_1_FGF13-NLRP3_FGF13_chrX_137939674_ENST00000441825_NLRP3_chr1_247611707_ENST00000391827_length(amino acids)=69AA_BP=

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chrX:137939674/chr1:247611707)
- 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
FGF13

Q92913

NLRP3

Q96P20

FUNCTION: Microtubule-binding protein which directly binds tubulin and is involved in both polymerization and stabilization of microtubules (By similarity). Through its action on microtubules, may participate in the refinement of axons by negatively regulating axonal and leading processes branching (By similarity). Plays a crucial role in neuron polarization and migration in the cerebral cortex and the hippocampus (By similarity). May regulate voltage-gated sodium channels transport and function (PubMed:15282281). May also play a role in MAPK signaling (By similarity). Required for the development of axonal initial segment-targeting inhibitory GABAergic synapses made by chandelier neurons (By similarity). {ECO:0000250|UniProtKB:P70377, ECO:0000269|PubMed:15282281}.FUNCTION: As the sensor component of the NLRP3 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP3, PYCARD and CASP1 (and possibly CASP4 and CASP5). Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu (PubMed:28847925). Activation of NLRP3 inflammasome is also required for HMGB1 secretion (PubMed:22801494). The active cytokines and HMGB1 stimulate inflammatory responses. Inflammasomes can also induce pyroptosis, an inflammatory form of programmed cell death. Under resting conditions, NLRP3 is autoinhibited. NLRP3 activation stimuli include extracellular ATP, reactive oxygen species, K(+) efflux, crystals of monosodium urate or cholesterol, amyloid-beta fibers, environmental or industrial particles and nanoparticles, cytosolic dsRNA, etc. However, it is unclear what constitutes the direct NLRP3 activator. Activation in presence of cytosolic dsRNA is mediated by DHX33 (PubMed:23871209). Independently of inflammasome activation, regulates the differentiation of T helper 2 (Th2) cells and has a role in Th2 cell-dependent asthma and tumor growth (By similarity). During Th2 differentiation, required for optimal IRF4 binding to IL4 promoter and for IRF4-dependent IL4 transcription. Binds to the consensus DNA sequence 5'-GRRGGNRGAG-3'. May also participate in the transcription of IL5, IL13, GATA3, CCR3, CCR4 and MAF (By similarity). {ECO:0000250|UniProtKB:Q8R4B8, ECO:0000269|PubMed:22801494, ECO:0000269|PubMed:23871209, ECO:0000269|PubMed:28847925, ECO:0000305|PubMed:23305783}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneNLRP3chrX:137939674chr1:247611707ENST0000034806957913_933889.6666666666666923.0RepeatNote=LRR 7
TgeneNLRP3chrX:137939674chr1:247611707ENST0000034806957942_963889.6666666666666923.0RepeatNote=LRR 8
TgeneNLRP3chrX:137939674chr1:247611707ENST0000034806957970_991889.6666666666666923.0RepeatNote=LRR 9
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649668970_991946.6666666666666980.0RepeatNote=LRR 9
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649779970_991946.6666666666666980.0RepeatNote=LRR 9
TgeneNLRP3chrX:137939674chr1:247611707ENST0000039182768970_991946.6666666666666980.0RepeatNote=LRR 9

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneNLRP3chrX:137939674chr1:247611707ENST0000033611979690_6971003.66666666666661037.0Compositional biasNote=Poly-Glu
TgeneNLRP3chrX:137939674chr1:247611707ENST0000034806957690_697889.6666666666666923.0Compositional biasNote=Poly-Glu
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649668690_697946.6666666666666980.0Compositional biasNote=Poly-Glu
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649779690_697946.6666666666666980.0Compositional biasNote=Poly-Glu
TgeneNLRP3chrX:137939674chr1:247611707ENST0000039182768690_697946.6666666666666980.0Compositional biasNote=Poly-Glu
TgeneNLRP3chrX:137939674chr1:247611707ENST00000391828911690_6971003.66666666666661037.0Compositional biasNote=Poly-Glu
TgeneNLRP3chrX:137939674chr1:247611707ENST00000336119791_931003.66666666666661037.0DomainPyrin
TgeneNLRP3chrX:137939674chr1:247611707ENST0000033611979220_5361003.66666666666661037.0DomainNACHT
TgeneNLRP3chrX:137939674chr1:247611707ENST00000348069571_93889.6666666666666923.0DomainPyrin
TgeneNLRP3chrX:137939674chr1:247611707ENST0000034806957220_536889.6666666666666923.0DomainNACHT
TgeneNLRP3chrX:137939674chr1:247611707ENST00000366496681_93946.6666666666666980.0DomainPyrin
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649668220_536946.6666666666666980.0DomainNACHT
TgeneNLRP3chrX:137939674chr1:247611707ENST00000366497791_93946.6666666666666980.0DomainPyrin
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649779220_536946.6666666666666980.0DomainNACHT
TgeneNLRP3chrX:137939674chr1:247611707ENST00000391827681_93946.6666666666666980.0DomainPyrin
TgeneNLRP3chrX:137939674chr1:247611707ENST0000039182768220_536946.6666666666666980.0DomainNACHT
TgeneNLRP3chrX:137939674chr1:247611707ENST000003918289111_931003.66666666666661037.0DomainPyrin
TgeneNLRP3chrX:137939674chr1:247611707ENST00000391828911220_5361003.66666666666661037.0DomainNACHT
TgeneNLRP3chrX:137939674chr1:247611707ENST0000033611979226_2331003.66666666666661037.0Nucleotide bindingATP
TgeneNLRP3chrX:137939674chr1:247611707ENST0000034806957226_233889.6666666666666923.0Nucleotide bindingATP
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649668226_233946.6666666666666980.0Nucleotide bindingATP
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649779226_233946.6666666666666980.0Nucleotide bindingATP
TgeneNLRP3chrX:137939674chr1:247611707ENST0000039182768226_233946.6666666666666980.0Nucleotide bindingATP
TgeneNLRP3chrX:137939674chr1:247611707ENST00000391828911226_2331003.66666666666661037.0Nucleotide bindingATP
TgeneNLRP3chrX:137939674chr1:247611707ENST0000033611979742_7621003.66666666666661037.0RepeatNote=LRR 1
TgeneNLRP3chrX:137939674chr1:247611707ENST0000033611979771_7921003.66666666666661037.0RepeatNote=LRR 2
TgeneNLRP3chrX:137939674chr1:247611707ENST0000033611979799_8191003.66666666666661037.0RepeatNote=LRR 3
TgeneNLRP3chrX:137939674chr1:247611707ENST0000033611979828_8491003.66666666666661037.0RepeatNote=LRR 4
TgeneNLRP3chrX:137939674chr1:247611707ENST0000033611979856_8761003.66666666666661037.0RepeatNote=LRR 5
TgeneNLRP3chrX:137939674chr1:247611707ENST0000033611979885_9061003.66666666666661037.0RepeatNote=LRR 6
TgeneNLRP3chrX:137939674chr1:247611707ENST0000033611979913_9331003.66666666666661037.0RepeatNote=LRR 7
TgeneNLRP3chrX:137939674chr1:247611707ENST0000033611979942_9631003.66666666666661037.0RepeatNote=LRR 8
TgeneNLRP3chrX:137939674chr1:247611707ENST0000033611979970_9911003.66666666666661037.0RepeatNote=LRR 9
TgeneNLRP3chrX:137939674chr1:247611707ENST0000034806957742_762889.6666666666666923.0RepeatNote=LRR 1
TgeneNLRP3chrX:137939674chr1:247611707ENST0000034806957771_792889.6666666666666923.0RepeatNote=LRR 2
TgeneNLRP3chrX:137939674chr1:247611707ENST0000034806957799_819889.6666666666666923.0RepeatNote=LRR 3
TgeneNLRP3chrX:137939674chr1:247611707ENST0000034806957828_849889.6666666666666923.0RepeatNote=LRR 4
TgeneNLRP3chrX:137939674chr1:247611707ENST0000034806957856_876889.6666666666666923.0RepeatNote=LRR 5
TgeneNLRP3chrX:137939674chr1:247611707ENST0000034806957885_906889.6666666666666923.0RepeatNote=LRR 6
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649668742_762946.6666666666666980.0RepeatNote=LRR 1
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649668771_792946.6666666666666980.0RepeatNote=LRR 2
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649668799_819946.6666666666666980.0RepeatNote=LRR 3
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649668828_849946.6666666666666980.0RepeatNote=LRR 4
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649668856_876946.6666666666666980.0RepeatNote=LRR 5
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649668885_906946.6666666666666980.0RepeatNote=LRR 6
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649668913_933946.6666666666666980.0RepeatNote=LRR 7
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649668942_963946.6666666666666980.0RepeatNote=LRR 8
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649779742_762946.6666666666666980.0RepeatNote=LRR 1
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649779771_792946.6666666666666980.0RepeatNote=LRR 2
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649779799_819946.6666666666666980.0RepeatNote=LRR 3
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649779828_849946.6666666666666980.0RepeatNote=LRR 4
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649779856_876946.6666666666666980.0RepeatNote=LRR 5
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649779885_906946.6666666666666980.0RepeatNote=LRR 6
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649779913_933946.6666666666666980.0RepeatNote=LRR 7
TgeneNLRP3chrX:137939674chr1:247611707ENST0000036649779942_963946.6666666666666980.0RepeatNote=LRR 8
TgeneNLRP3chrX:137939674chr1:247611707ENST0000039182768742_762946.6666666666666980.0RepeatNote=LRR 1
TgeneNLRP3chrX:137939674chr1:247611707ENST0000039182768771_792946.6666666666666980.0RepeatNote=LRR 2
TgeneNLRP3chrX:137939674chr1:247611707ENST0000039182768799_819946.6666666666666980.0RepeatNote=LRR 3
TgeneNLRP3chrX:137939674chr1:247611707ENST0000039182768828_849946.6666666666666980.0RepeatNote=LRR 4
TgeneNLRP3chrX:137939674chr1:247611707ENST0000039182768856_876946.6666666666666980.0RepeatNote=LRR 5
TgeneNLRP3chrX:137939674chr1:247611707ENST0000039182768885_906946.6666666666666980.0RepeatNote=LRR 6
TgeneNLRP3chrX:137939674chr1:247611707ENST0000039182768913_933946.6666666666666980.0RepeatNote=LRR 7
TgeneNLRP3chrX:137939674chr1:247611707ENST0000039182768942_963946.6666666666666980.0RepeatNote=LRR 8
TgeneNLRP3chrX:137939674chr1:247611707ENST00000391828911742_7621003.66666666666661037.0RepeatNote=LRR 1
TgeneNLRP3chrX:137939674chr1:247611707ENST00000391828911771_7921003.66666666666661037.0RepeatNote=LRR 2
TgeneNLRP3chrX:137939674chr1:247611707ENST00000391828911799_8191003.66666666666661037.0RepeatNote=LRR 3
TgeneNLRP3chrX:137939674chr1:247611707ENST00000391828911828_8491003.66666666666661037.0RepeatNote=LRR 4
TgeneNLRP3chrX:137939674chr1:247611707ENST00000391828911856_8761003.66666666666661037.0RepeatNote=LRR 5
TgeneNLRP3chrX:137939674chr1:247611707ENST00000391828911885_9061003.66666666666661037.0RepeatNote=LRR 6
TgeneNLRP3chrX:137939674chr1:247611707ENST00000391828911913_9331003.66666666666661037.0RepeatNote=LRR 7
TgeneNLRP3chrX:137939674chr1:247611707ENST00000391828911942_9631003.66666666666661037.0RepeatNote=LRR 8
TgeneNLRP3chrX:137939674chr1:247611707ENST00000391828911970_9911003.66666666666661037.0RepeatNote=LRR 9


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
FGF13
NLRP3


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to FGF13-NLRP3


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to FGF13-NLRP3


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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