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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:NLRP1-DERL2 (FusionGDB2 ID:59382)

Fusion Gene Summary for NLRP1-DERL2

check button Fusion gene summary
Fusion gene informationFusion gene name: NLRP1-DERL2
Fusion gene ID: 59382
HgeneTgene
Gene symbol

NLRP1

DERL2

Gene ID

22861

51009

Gene nameNLR family pyrin domain containing 1derlin 2
SynonymsAIADK|CARD7|CIDED|CLR17.1|DEFCAP|DEFCAP-L/S|JRRP|MSPC|NAC|NALP1|PP1044|SLEV1|VAMAS1CGI-101|DERtrin-2|F-LAN-1|F-LANa|FLANa|derlin-2
Cytomap

17p13.2

17p13.2

Type of geneprotein-codingprotein-coding
DescriptionNACHT, LRR and PYD domains-containing protein 1NACHT, LRR and PYD containing protein 1NACHT, leucine rich repeat and PYD (pyrin domain) containing 1NACHT, leucine rich repeat and PYD containing 1caspase recruitment domain protein 7caspase recruitmentderlin-2Der1-like domain family, member 2carcinoma relateddegradation in endoplasmic reticulum protein 2
Modification date2020032220200313
UniProtAcc

Q9C000

Q9GZP9

Ensembl transtripts involved in fusion geneENST00000262467, ENST00000269280, 
ENST00000345221, ENST00000354411, 
ENST00000571307, ENST00000572272, 
ENST00000577119, 		ENST00000158771, 
ENST00000570848, ENST00000572834, 
ENST00000571968, 
Fusion gene scores* DoF score6 X 5 X 3=906 X 6 X 6=216
# samples 76
** MAII scorelog2(7/90*10)=-0.362570079384708
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/216*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NLRP1 [Title/Abstract] AND DERL2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDERL2(5383374)-NLRP1(5437308), # samples:2
NLRP1(5522651)-DERL2(5386202), # samples:1
NLRP1(5522651)-DERL2(5383464), # 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
HgeneNLRP1

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

15212762

HgeneNLRP1

GO:0051402

neuron apoptotic process

15212762

TgeneDERL2

GO:0008284

positive regulation of cell proliferation

11500051

TgeneDERL2

GO:0030307

positive regulation of cell growth

11500051

TgeneDERL2

GO:0030968

endoplasmic reticulum unfolded protein response

16449189


check buttonFusion gene breakpoints across NLRP1 (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 DERL2 (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-HU-A4H8-01ANLRP1chr17

5522651

-DERL2chr17

5383464

-
ChimerDB4STADTCGA-HU-A4H8-01ANLRP1chr17

5522651

-DERL2chr17

5386202

-


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Fusion Gene ORF analysis for NLRP1-DERL2

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-3CDSENST00000262467ENST00000158771NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-3CDSENST00000262467ENST00000158771NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-3CDSENST00000262467ENST00000570848NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-3CDSENST00000262467ENST00000572834NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-3CDSENST00000269280ENST00000158771NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-3CDSENST00000269280ENST00000158771NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-3CDSENST00000269280ENST00000570848NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-3CDSENST00000269280ENST00000572834NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-3CDSENST00000345221ENST00000158771NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-3CDSENST00000345221ENST00000158771NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-3CDSENST00000345221ENST00000570848NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-3CDSENST00000345221ENST00000572834NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-3CDSENST00000354411ENST00000158771NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-3CDSENST00000354411ENST00000158771NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-3CDSENST00000354411ENST00000570848NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-3CDSENST00000354411ENST00000572834NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-3CDSENST00000571307ENST00000158771NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-3CDSENST00000571307ENST00000158771NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-3CDSENST00000571307ENST00000570848NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-3CDSENST00000571307ENST00000572834NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-3CDSENST00000572272ENST00000158771NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-3CDSENST00000572272ENST00000158771NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-3CDSENST00000572272ENST00000570848NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-3CDSENST00000572272ENST00000572834NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-3CDSENST00000577119ENST00000158771NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-3CDSENST00000577119ENST00000158771NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-3CDSENST00000577119ENST00000570848NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-3CDSENST00000577119ENST00000572834NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-5UTRENST00000262467ENST00000571968NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-5UTRENST00000269280ENST00000571968NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-5UTRENST00000345221ENST00000571968NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-5UTRENST00000354411ENST00000571968NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-5UTRENST00000571307ENST00000571968NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-5UTRENST00000572272ENST00000571968NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-5UTRENST00000577119ENST00000571968NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-intronENST00000262467ENST00000570848NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-intronENST00000262467ENST00000571968NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-intronENST00000262467ENST00000572834NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-intronENST00000269280ENST00000570848NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-intronENST00000269280ENST00000571968NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-intronENST00000269280ENST00000572834NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-intronENST00000345221ENST00000570848NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-intronENST00000345221ENST00000571968NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-intronENST00000345221ENST00000572834NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-intronENST00000354411ENST00000570848NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-intronENST00000354411ENST00000571968NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-intronENST00000354411ENST00000572834NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-intronENST00000571307ENST00000570848NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-intronENST00000571307ENST00000571968NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-intronENST00000571307ENST00000572834NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-intronENST00000572272ENST00000570848NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-intronENST00000572272ENST00000571968NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-intronENST00000572272ENST00000572834NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-intronENST00000577119ENST00000570848NLRP1chr17

5522651

-DERL2chr17

5386202

-
intron-intronENST00000577119ENST00000571968NLRP1chr17

5522651

-DERL2chr17

5383464

-
intron-intronENST00000577119ENST00000572834NLRP1chr17

5522651

-DERL2chr17

5386202

-

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 NLRP1-DERL2


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 NLRP1-DERL2


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/:5383374/:5437308)
- 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
NLRP1

Q9C000

DERL2

Q9GZP9

FUNCTION: As the sensor component of the NLRP1 inflammasome, plays a crucial role in innate immunity and inflammation. Inflammasomes are supramolecular complexes that assemble in the cytosol in response to pathogens and other damage-associated signals and play critical roles in innate immunity and inflammation. In response to pathogens and other damage-associated signals, initiates the formation of the inflammasome polymeric complex, made of NLRP1, CASP1, and possibly PYCARD. Recruitment of proCASP1 to the inflammasome promotes its activation and CASP1-catalyzed IL1B and IL18 maturation and secretion in the extracellular milieu (PubMed:33093214). Activation of NLRP1 inflammasome is also required for HMGB1 secretion. The active cytokines and HMGB1 stimulate inflammatory responses. Inflammasomes can also induce pyroptosis, an inflammatory form of programmed cell death (PubMed:22665479, PubMed:17418785). May be activated by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, in a NOD2-dependent manner (PubMed:18511561). Binds ATP and shows ATPase activity (PubMed:11113115, PubMed:15212762, PubMed:33243852). Plays an important role in antiviral immunity and inflammation in the human airway epithelium. Upon infection by human rhinoviruses 14 and 16 (HRV-14 and HRV-16), NLRP1 is cleaved and activated which triggers NLRP1-dependent inflammasome activation and IL18 secretion (PubMed:33093214). Contrary to its mouse ortholog, not activated by Bacillus anthracis lethal toxin (PubMed:19651869). Acts as a direct sensor for long dsRNA and thus RNA virus infection (PubMed:33243852). Positive-strand RNA viruses such as Semliki forest virus and long dsRNA activate the NLRP1 inflammasome, triggering IL1B release in a NLRP1-dependent fashion (PubMed:33243852). {ECO:0000250|UniProtKB:A1Z198, ECO:0000269|PubMed:11113115, ECO:0000269|PubMed:15212762, ECO:0000269|PubMed:17349957, ECO:0000269|PubMed:17418785, ECO:0000269|PubMed:18511561, ECO:0000269|PubMed:19651869, ECO:0000269|PubMed:22665479, ECO:0000269|PubMed:27662089, ECO:0000269|PubMed:31484767, ECO:0000269|PubMed:33093214, ECO:0000269|PubMed:33243852}.; FUNCTION: [Isoform 2]: It is unclear whether is involved in inflammasome formation. It is not cleaved within the FIIND domain, does not assemble into specks, nor promote IL1B release (PubMed:22665479). However, in an vitro cell-free system, it has been shown to be activated by MDP (PubMed:17349957). {ECO:0000269|PubMed:17349957, ECO:0000269|PubMed:22665479}.FUNCTION: Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and misfolded glycoproteins (PubMed:16186509, PubMed:16449189). May also be involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908). {ECO:0000269|PubMed:16186509, ECO:0000269|PubMed:16449189, ECO:0000269|PubMed:26565908}.; FUNCTION: (Microbial infection) In contrast to DERL1, it is not involved in the degradation of MHC class I heavy chains following infection by cytomegaloviruses. {ECO:0000269|PubMed:15215855}.

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 NLRP1-DERL2


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 NLRP1-DERL2


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 NLRP1-DERL2


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 NLRP1-DERL2


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