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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:DERL2-NLRP1 (FusionGDB2 ID:22334)

Fusion Gene Summary for DERL2-NLRP1

check button Fusion gene summary
Fusion gene informationFusion gene name: DERL2-NLRP1
Fusion gene ID: 22334
HgeneTgene
Gene symbol

DERL2

NLRP1

Gene ID

51009

22861

Gene namederlin 2NLR family pyrin domain containing 1
SynonymsCGI-101|DERtrin-2|F-LAN-1|F-LANa|FLANa|derlin-2AIADK|CARD7|CIDED|CLR17.1|DEFCAP|DEFCAP-L/S|JRRP|MSPC|NAC|NALP1|PP1044|SLEV1|VAMAS1
Cytomap

17p13.2

17p13.2

Type of geneprotein-codingprotein-coding
Descriptionderlin-2Der1-like domain family, member 2carcinoma relateddegradation in endoplasmic reticulum protein 2NACHT, 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 recruitment
Modification date2020031320200322
UniProtAcc

Q9GZP9

P59046

Ensembl transtripts involved in fusion geneENST00000158771, ENST00000572834, 
ENST00000570848, ENST00000571968, 
ENST00000262467, ENST00000345221, 
ENST00000269280, ENST00000572272, 
ENST00000354411, ENST00000577119, 
ENST00000571307, 
Fusion gene scores* DoF score1 X 1 X 1=111 X 7 X 7=539
# samples 111
** MAII scorelog2(1/1*10)=3.32192809488736log2(11/539*10)=-2.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DERL2 [Title/Abstract] AND NLRP1 [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
HgeneDERL2

GO:0008284

positive regulation of cell proliferation

11500051

HgeneDERL2

GO:0030307

positive regulation of cell growth

11500051

HgeneDERL2

GO:0030968

endoplasmic reticulum unfolded protein response

16449189

TgeneNLRP1

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

15212762

TgeneNLRP1

GO:0051402

neuron apoptotic process

15212762


check buttonFusion gene breakpoints across DERL2 (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 NLRP1 (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
ChimerDB4OVTCGA-20-0987-01ADERL2chr17

5383374

-NLRP1chr17

5437308

-
ChimerDB4OVTCGA-20-0987-01ADERL2chr17

5383374

-NLRP1chr17

5437308

-


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Fusion Gene ORF analysis for DERL2-NLRP1

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
In-frameENST00000158771ENST00000262467DERL2chr17

5383374

-NLRP1chr17

5437308

-
In-frameENST00000158771ENST00000345221DERL2chr17

5383374

-NLRP1chr17

5437308

-
In-frameENST00000158771ENST00000269280DERL2chr17

5383374

-NLRP1chr17

5437308

-
In-frameENST00000158771ENST00000572272DERL2chr17

5383374

-NLRP1chr17

5437308

-
In-frameENST00000158771ENST00000354411DERL2chr17

5383374

-NLRP1chr17

5437308

-
In-frameENST00000158771ENST00000577119DERL2chr17

5383374

-NLRP1chr17

5437308

-
5CDS-5UTRENST00000158771ENST00000571307DERL2chr17

5383374

-NLRP1chr17

5437308

-
3UTR-3CDSENST00000572834ENST00000262467DERL2chr17

5383374

-NLRP1chr17

5437308

-
3UTR-3CDSENST00000572834ENST00000345221DERL2chr17

5383374

-NLRP1chr17

5437308

-
3UTR-3CDSENST00000572834ENST00000269280DERL2chr17

5383374

-NLRP1chr17

5437308

-
3UTR-3CDSENST00000572834ENST00000572272DERL2chr17

5383374

-NLRP1chr17

5437308

-
3UTR-3CDSENST00000572834ENST00000354411DERL2chr17

5383374

-NLRP1chr17

5437308

-
3UTR-3CDSENST00000572834ENST00000577119DERL2chr17

5383374

-NLRP1chr17

5437308

-
3UTR-5UTRENST00000572834ENST00000571307DERL2chr17

5383374

-NLRP1chr17

5437308

-
3UTR-3CDSENST00000570848ENST00000262467DERL2chr17

5383374

-NLRP1chr17

5437308

-
3UTR-3CDSENST00000570848ENST00000345221DERL2chr17

5383374

-NLRP1chr17

5437308

-
3UTR-3CDSENST00000570848ENST00000269280DERL2chr17

5383374

-NLRP1chr17

5437308

-
3UTR-3CDSENST00000570848ENST00000572272DERL2chr17

5383374

-NLRP1chr17

5437308

-
3UTR-3CDSENST00000570848ENST00000354411DERL2chr17

5383374

-NLRP1chr17

5437308

-
3UTR-3CDSENST00000570848ENST00000577119DERL2chr17

5383374

-NLRP1chr17

5437308

-
3UTR-5UTRENST00000570848ENST00000571307DERL2chr17

5383374

-NLRP1chr17

5437308

-
intron-3CDSENST00000571968ENST00000262467DERL2chr17

5383374

-NLRP1chr17

5437308

-
intron-3CDSENST00000571968ENST00000345221DERL2chr17

5383374

-NLRP1chr17

5437308

-
intron-3CDSENST00000571968ENST00000269280DERL2chr17

5383374

-NLRP1chr17

5437308

-
intron-3CDSENST00000571968ENST00000572272DERL2chr17

5383374

-NLRP1chr17

5437308

-
intron-3CDSENST00000571968ENST00000354411DERL2chr17

5383374

-NLRP1chr17

5437308

-
intron-3CDSENST00000571968ENST00000577119DERL2chr17

5383374

-NLRP1chr17

5437308

-
intron-5UTRENST00000571968ENST00000571307DERL2chr17

5383374

-NLRP1chr17

5437308

-

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 DERL2-NLRP1


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 DERL2-NLRP1


check button Go to

FGviewer for the breakpoints of chr17:5383374-chr17:5437308

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DERL2

Q9GZP9

NLRP1

P59046

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}.FUNCTION: Plays an essential role as an potent mitigator of inflammation (PubMed:30559449). Primarily expressed in dendritic cells and macrophages, inhibits both canonical and non-canonical NF-kappa-B and ERK activation pathways (PubMed:15489334, PubMed:17947705). Functions as a negative regulator of NOD2 by targeting it to degradation via the proteasome pathway (PubMed:30559449). In turn, promotes bacterial tolerance (PubMed:30559449). Inhibits also the DDX58-mediated immune signaling against RNA viruses by reducing the E3 ubiquitin ligase TRIM25-mediated 'Lys-63'-linked DDX58 activation but enhancing the E3 ubiquitin ligase RNF125-mediated 'Lys-48'-linked DDX58 degradation (PubMed:30902577). Acts also as a negative regulator of inflammatory response to mitigate obesity and obesity-associated diseases in adipose tissue (By similarity). {ECO:0000250|UniProtKB:E9Q5R7, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17947705, ECO:0000269|PubMed:30559449, ECO:0000269|PubMed:30902577}.

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
HgeneDERL2chr17:5383374chr17:5437308ENST00000158771-67118_150204.66666666666666240.0Topological domainCytoplasmic
HgeneDERL2chr17:5383374chr17:5437308ENST00000158771-67172_172204.66666666666666240.0Topological domainLumenal
HgeneDERL2chr17:5383374chr17:5437308ENST00000158771-671_57204.66666666666666240.0Topological domainCytoplasmic
HgeneDERL2chr17:5383374chr17:5437308ENST00000158771-6779_96204.66666666666666240.0Topological domainLumenal
HgeneDERL2chr17:5383374chr17:5437308ENST00000158771-67151_171204.66666666666666240.0TransmembraneHelical%3B Name%3D3
HgeneDERL2chr17:5383374chr17:5437308ENST00000158771-67173_193204.66666666666666240.0TransmembraneHelical%3B Name%3D4
HgeneDERL2chr17:5383374chr17:5437308ENST00000158771-6758_78204.66666666666666240.0TransmembraneHelical%3B Name%3D1
HgeneDERL2chr17:5383374chr17:5437308ENST00000158771-6797_117204.66666666666666240.0TransmembraneHelical%3B Name%3D2
TgeneNLRP1chr17:5383374chr17:5437308ENST000002692808171079_1364986.66666666666661430.0DomainFIIND
TgeneNLRP1chr17:5383374chr17:5437308ENST000002692808171374_1463986.66666666666661430.0DomainCARD
TgeneNLRP1chr17:5383374chr17:5437308ENST000003452217161079_1364986.66666666666661430.0DomainFIIND
TgeneNLRP1chr17:5383374chr17:5437308ENST000003452217161374_1463986.66666666666661430.0DomainCARD
TgeneNLRP1chr17:5383374chr17:5437308ENST000003544116161079_1364956.66666666666661444.0DomainFIIND
TgeneNLRP1chr17:5383374chr17:5437308ENST000003544116161374_1463956.66666666666661444.0DomainCARD
TgeneNLRP1chr17:5383374chr17:5437308ENST000005722727171079_1364986.66666666666661474.0DomainFIIND
TgeneNLRP1chr17:5383374chr17:5437308ENST000005722727171374_1463986.66666666666661474.0DomainCARD
TgeneNLRP1chr17:5383374chr17:5437308ENST000005771196151079_1364956.66666666666661400.0DomainFIIND
TgeneNLRP1chr17:5383374chr17:5437308ENST000005771196151374_1463956.66666666666661400.0DomainCARD

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDERL2chr17:5383374chr17:5437308ENST00000158771-67194_239204.66666666666666240.0Topological domainCytoplasmic
TgeneNLRP1chr17:5383374chr17:5437308ENST000002692808171_92986.66666666666661430.0DomainPyrin
TgeneNLRP1chr17:5383374chr17:5437308ENST00000269280817328_637986.66666666666661430.0DomainNACHT
TgeneNLRP1chr17:5383374chr17:5437308ENST000003452217161_92986.66666666666661430.0DomainPyrin
TgeneNLRP1chr17:5383374chr17:5437308ENST00000345221716328_637986.66666666666661430.0DomainNACHT
TgeneNLRP1chr17:5383374chr17:5437308ENST000003544116161_92956.66666666666661444.0DomainPyrin
TgeneNLRP1chr17:5383374chr17:5437308ENST00000354411616328_637956.66666666666661444.0DomainNACHT
TgeneNLRP1chr17:5383374chr17:5437308ENST000005722727171_92986.66666666666661474.0DomainPyrin
TgeneNLRP1chr17:5383374chr17:5437308ENST00000572272717328_637986.66666666666661474.0DomainNACHT
TgeneNLRP1chr17:5383374chr17:5437308ENST000005771196151_92956.66666666666661400.0DomainPyrin
TgeneNLRP1chr17:5383374chr17:5437308ENST00000577119615328_637956.66666666666661400.0DomainNACHT
TgeneNLRP1chr17:5383374chr17:5437308ENST00000269280817334_341986.66666666666661430.0Nucleotide bindingATP
TgeneNLRP1chr17:5383374chr17:5437308ENST00000345221716334_341986.66666666666661430.0Nucleotide bindingATP
TgeneNLRP1chr17:5383374chr17:5437308ENST00000354411616334_341956.66666666666661444.0Nucleotide bindingATP
TgeneNLRP1chr17:5383374chr17:5437308ENST00000572272717334_341986.66666666666661474.0Nucleotide bindingATP
TgeneNLRP1chr17:5383374chr17:5437308ENST00000577119615334_341956.66666666666661400.0Nucleotide bindingATP
TgeneNLRP1chr17:5383374chr17:5437308ENST00000269280817809_830986.66666666666661430.0RepeatNote=LRR 1
TgeneNLRP1chr17:5383374chr17:5437308ENST00000269280817838_858986.66666666666661430.0RepeatNote=LRR 2
TgeneNLRP1chr17:5383374chr17:5437308ENST00000269280817866_887986.66666666666661430.0RepeatNote=LRR 3
TgeneNLRP1chr17:5383374chr17:5437308ENST00000269280817895_915986.66666666666661430.0RepeatNote=LRR 4
TgeneNLRP1chr17:5383374chr17:5437308ENST00000269280817923_944986.66666666666661430.0RepeatNote=LRR 5
TgeneNLRP1chr17:5383374chr17:5437308ENST00000269280817950_973986.66666666666661430.0RepeatNote=LRR 6
TgeneNLRP1chr17:5383374chr17:5437308ENST00000345221716809_830986.66666666666661430.0RepeatNote=LRR 1
TgeneNLRP1chr17:5383374chr17:5437308ENST00000345221716838_858986.66666666666661430.0RepeatNote=LRR 2
TgeneNLRP1chr17:5383374chr17:5437308ENST00000345221716866_887986.66666666666661430.0RepeatNote=LRR 3
TgeneNLRP1chr17:5383374chr17:5437308ENST00000345221716895_915986.66666666666661430.0RepeatNote=LRR 4
TgeneNLRP1chr17:5383374chr17:5437308ENST00000345221716923_944986.66666666666661430.0RepeatNote=LRR 5
TgeneNLRP1chr17:5383374chr17:5437308ENST00000345221716950_973986.66666666666661430.0RepeatNote=LRR 6
TgeneNLRP1chr17:5383374chr17:5437308ENST00000354411616809_830956.66666666666661444.0RepeatNote=LRR 1
TgeneNLRP1chr17:5383374chr17:5437308ENST00000354411616838_858956.66666666666661444.0RepeatNote=LRR 2
TgeneNLRP1chr17:5383374chr17:5437308ENST00000354411616866_887956.66666666666661444.0RepeatNote=LRR 3
TgeneNLRP1chr17:5383374chr17:5437308ENST00000354411616895_915956.66666666666661444.0RepeatNote=LRR 4
TgeneNLRP1chr17:5383374chr17:5437308ENST00000354411616923_944956.66666666666661444.0RepeatNote=LRR 5
TgeneNLRP1chr17:5383374chr17:5437308ENST00000354411616950_973956.66666666666661444.0RepeatNote=LRR 6
TgeneNLRP1chr17:5383374chr17:5437308ENST00000572272717809_830986.66666666666661474.0RepeatNote=LRR 1
TgeneNLRP1chr17:5383374chr17:5437308ENST00000572272717838_858986.66666666666661474.0RepeatNote=LRR 2
TgeneNLRP1chr17:5383374chr17:5437308ENST00000572272717866_887986.66666666666661474.0RepeatNote=LRR 3
TgeneNLRP1chr17:5383374chr17:5437308ENST00000572272717895_915986.66666666666661474.0RepeatNote=LRR 4
TgeneNLRP1chr17:5383374chr17:5437308ENST00000572272717923_944986.66666666666661474.0RepeatNote=LRR 5
TgeneNLRP1chr17:5383374chr17:5437308ENST00000572272717950_973986.66666666666661474.0RepeatNote=LRR 6
TgeneNLRP1chr17:5383374chr17:5437308ENST00000577119615809_830956.66666666666661400.0RepeatNote=LRR 1
TgeneNLRP1chr17:5383374chr17:5437308ENST00000577119615838_858956.66666666666661400.0RepeatNote=LRR 2
TgeneNLRP1chr17:5383374chr17:5437308ENST00000577119615866_887956.66666666666661400.0RepeatNote=LRR 3
TgeneNLRP1chr17:5383374chr17:5437308ENST00000577119615895_915956.66666666666661400.0RepeatNote=LRR 4
TgeneNLRP1chr17:5383374chr17:5437308ENST00000577119615923_944956.66666666666661400.0RepeatNote=LRR 5
TgeneNLRP1chr17:5383374chr17:5437308ENST00000577119615950_973956.66666666666661400.0RepeatNote=LRR 6


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Fusion Gene Sequence for DERL2-NLRP1


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 DERL2-NLRP1


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 DERL2-NLRP1


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 DERL2-NLRP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNLRP1C3808876PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING2CTD_human;ORPHANET;UNIPROT
TgeneNLRP1C4479278AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS2CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneNLRP1C1847835VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)1CTD_human;UNIPROT
TgeneNLRP1C3860213Autoinflammatory disorder1GENOMICS_ENGLAND