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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 9779

FusionGeneSummary for DERL2_NLRP1

check button Fusion gene summary
Fusion gene informationFusion gene name: DERL2_NLRP1
Fusion gene ID: 9779
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|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 date2018051920180523
UniProtAcc

Q9GZP9

Q9C000

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=17 X 4 X 6=168
# samples 19
** MAII scorelog2(1/1*10)=3.32192809488736log2(9/168*10)=-0.900464326449086
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]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDOVTCGA-20-0987-01ADERL2chr17

5383374

-NLRP1chr17

5437308

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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

-

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FusionProtFeatures for DERL2_NLRP1


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

Q9GZP9

NLRP1

Q9C000

Functional component of endoplasmic reticulum-associateddegradation (ERAD) for misfolded lumenal glycoproteins, but notthat of misfolded nonglycoproteins. May act by forming a channelthat allows the retrotranslocation of misfolded glycoproteins intothe cytosol where they are ubiquitinated and degraded by theproteasome. May mediate the interaction between VCP and misfoldedglycoproteins (PubMed:16186509, PubMed:16449189). May also beinvolved in endoplasmic reticulum stress-induced pre-emptivequality control, a mechanism that selectively attenuates thetranslocation of newly synthesized proteins into the endoplasmicreticulum and reroutes them to the cytosol for proteasomaldegradation (PubMed:26565908). {ECO:0000269|PubMed:16186509,ECO:0000269|PubMed:16449189, ECO:0000269|PubMed:26565908}. (Microbial infection) In contrast to DERL1, it is notinvolved in the degradation of MHC class I heavy chains followinginfection 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
HgeneDERL2chr17:5383374chr17:5437308ENST00000158771-67118_150204240Topological domainCytoplasmic
HgeneDERL2chr17:5383374chr17:5437308ENST00000158771-67172_172204240Topological domainLumenal
HgeneDERL2chr17:5383374chr17:5437308ENST00000158771-671_57204240Topological domainCytoplasmic
HgeneDERL2chr17:5383374chr17:5437308ENST00000158771-6779_96204240Topological domainLumenal
HgeneDERL2chr17:5383374chr17:5437308ENST00000158771-67151_171204240TransmembraneHelical%3B Name%3D3
HgeneDERL2chr17:5383374chr17:5437308ENST00000158771-67173_193204240TransmembraneHelical%3B Name%3D4
HgeneDERL2chr17:5383374chr17:5437308ENST00000158771-6758_78204240TransmembraneHelical%3B Name%3D1
HgeneDERL2chr17:5383374chr17:5437308ENST00000158771-6797_117204240TransmembraneHelical%3B Name%3D2
TgeneNLRP1chr17:5383374chr17:5437308ENST00000269280-8171079_13649861430DomainFIIND
TgeneNLRP1chr17:5383374chr17:5437308ENST00000269280-8171374_14639861430DomainCARD
TgeneNLRP1chr17:5383374chr17:5437308ENST00000345221-7161079_13649861430DomainFIIND
TgeneNLRP1chr17:5383374chr17:5437308ENST00000345221-7161374_14639861430DomainCARD
TgeneNLRP1chr17:5383374chr17:5437308ENST00000354411-6161079_13649561444DomainFIIND
TgeneNLRP1chr17:5383374chr17:5437308ENST00000354411-6161374_14639561444DomainCARD
TgeneNLRP1chr17:5383374chr17:5437308ENST00000572272-7171079_13649861474DomainFIIND
TgeneNLRP1chr17:5383374chr17:5437308ENST00000572272-7171374_14639861474DomainCARD
TgeneNLRP1chr17:5383374chr17:5437308ENST00000577119-6151079_13649561400DomainFIIND
TgeneNLRP1chr17:5383374chr17:5437308ENST00000577119-6151374_14639561400DomainCARD

- In-frame and not-retained protein feature among the 13 regional features.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDERL2chr17:5383374chr17:5437308ENST00000158771-67194_239204240Topological domainCytoplasmic
TgeneNLRP1chr17:5383374chr17:5437308ENST00000269280-8171_929861430DomainPyrin
TgeneNLRP1chr17:5383374chr17:5437308ENST00000269280-817328_6379861430DomainNACHT
TgeneNLRP1chr17:5383374chr17:5437308ENST00000345221-7161_929861430DomainPyrin
TgeneNLRP1chr17:5383374chr17:5437308ENST00000345221-716328_6379861430DomainNACHT
TgeneNLRP1chr17:5383374chr17:5437308ENST00000354411-6161_929561444DomainPyrin
TgeneNLRP1chr17:5383374chr17:5437308ENST00000354411-616328_6379561444DomainNACHT
TgeneNLRP1chr17:5383374chr17:5437308ENST00000572272-7171_929861474DomainPyrin
TgeneNLRP1chr17:5383374chr17:5437308ENST00000572272-717328_6379861474DomainNACHT
TgeneNLRP1chr17:5383374chr17:5437308ENST00000577119-6151_929561400DomainPyrin
TgeneNLRP1chr17:5383374chr17:5437308ENST00000577119-615328_6379561400DomainNACHT
TgeneNLRP1chr17:5383374chr17:5437308ENST00000269280-817334_3419861430Nucleotide bindingATP
TgeneNLRP1chr17:5383374chr17:5437308ENST00000345221-716334_3419861430Nucleotide bindingATP
TgeneNLRP1chr17:5383374chr17:5437308ENST00000354411-616334_3419561444Nucleotide bindingATP
TgeneNLRP1chr17:5383374chr17:5437308ENST00000572272-717334_3419861474Nucleotide bindingATP
TgeneNLRP1chr17:5383374chr17:5437308ENST00000577119-615334_3419561400Nucleotide bindingATP
TgeneNLRP1chr17:5383374chr17:5437308ENST00000269280-817809_8309861430RepeatNote=LRR 1
TgeneNLRP1chr17:5383374chr17:5437308ENST00000269280-817838_8589861430RepeatNote=LRR 2
TgeneNLRP1chr17:5383374chr17:5437308ENST00000269280-817866_8879861430RepeatNote=LRR 3
TgeneNLRP1chr17:5383374chr17:5437308ENST00000269280-817895_9159861430RepeatNote=LRR 4
TgeneNLRP1chr17:5383374chr17:5437308ENST00000269280-817923_9449861430RepeatNote=LRR 5
TgeneNLRP1chr17:5383374chr17:5437308ENST00000269280-817950_9739861430RepeatNote=LRR 6
TgeneNLRP1chr17:5383374chr17:5437308ENST00000345221-716809_8309861430RepeatNote=LRR 1
TgeneNLRP1chr17:5383374chr17:5437308ENST00000345221-716838_8589861430RepeatNote=LRR 2
TgeneNLRP1chr17:5383374chr17:5437308ENST00000345221-716866_8879861430RepeatNote=LRR 3
TgeneNLRP1chr17:5383374chr17:5437308ENST00000345221-716895_9159861430RepeatNote=LRR 4
TgeneNLRP1chr17:5383374chr17:5437308ENST00000345221-716923_9449861430RepeatNote=LRR 5
TgeneNLRP1chr17:5383374chr17:5437308ENST00000345221-716950_9739861430RepeatNote=LRR 6
TgeneNLRP1chr17:5383374chr17:5437308ENST00000354411-616809_8309561444RepeatNote=LRR 1
TgeneNLRP1chr17:5383374chr17:5437308ENST00000354411-616838_8589561444RepeatNote=LRR 2
TgeneNLRP1chr17:5383374chr17:5437308ENST00000354411-616866_8879561444RepeatNote=LRR 3
TgeneNLRP1chr17:5383374chr17:5437308ENST00000354411-616895_9159561444RepeatNote=LRR 4
TgeneNLRP1chr17:5383374chr17:5437308ENST00000354411-616923_9449561444RepeatNote=LRR 5
TgeneNLRP1chr17:5383374chr17:5437308ENST00000354411-616950_9739561444RepeatNote=LRR 6
TgeneNLRP1chr17:5383374chr17:5437308ENST00000572272-717809_8309861474RepeatNote=LRR 1
TgeneNLRP1chr17:5383374chr17:5437308ENST00000572272-717838_8589861474RepeatNote=LRR 2
TgeneNLRP1chr17:5383374chr17:5437308ENST00000572272-717866_8879861474RepeatNote=LRR 3
TgeneNLRP1chr17:5383374chr17:5437308ENST00000572272-717895_9159861474RepeatNote=LRR 4
TgeneNLRP1chr17:5383374chr17:5437308ENST00000572272-717923_9449861474RepeatNote=LRR 5
TgeneNLRP1chr17:5383374chr17:5437308ENST00000572272-717950_9739861474RepeatNote=LRR 6
TgeneNLRP1chr17:5383374chr17:5437308ENST00000577119-615809_8309561400RepeatNote=LRR 1
TgeneNLRP1chr17:5383374chr17:5437308ENST00000577119-615838_8589561400RepeatNote=LRR 2
TgeneNLRP1chr17:5383374chr17:5437308ENST00000577119-615866_8879561400RepeatNote=LRR 3
TgeneNLRP1chr17:5383374chr17:5437308ENST00000577119-615895_9159561400RepeatNote=LRR 4
TgeneNLRP1chr17:5383374chr17:5437308ENST00000577119-615923_9449561400RepeatNote=LRR 5
TgeneNLRP1chr17:5383374chr17:5437308ENST00000577119-615950_9739561400RepeatNote=LRR 6


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FusionGeneSequence for DERL2_NLRP1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
DERL2AMFR, VIMP, VCP, DERL1, SYVN1, SEL1L, UBE2J1, FAF2, SERPINA1, BAG6, CUL2, EDEM1, OS9, SHH, HERPUD1, SARAF, HEY2, HEY1, KRTAP10-7, KRTAP10-8, KRTAP10-3, ERLEC1, STT3A, POR, UBXN4, EMC2, ARL6IP5, EMC3, ESYT1, EMC1, RPN2, RTN4, TMEM129, TCTN3, REEP5, FZD1, TMEM63B, MASTL, RTN1, PDHA1, LMNANLRP1NLRC4, APAF1, CASP9, CASP2, APOA1, CUL3, TRIM68, CLTC, CSNK1E, EIF6, SMC2, WWP2, TRIM25


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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RelatedDrugs for DERL2_NLRP1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for DERL2_NLRP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNLRP1C1847835VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)2CTD_human;UNIPROT
TgeneNLRP1C3808876CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA1ORPHANET;UNIPROT