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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:NUP88-NLRP1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: NUP88-NLRP1
FusionPDB ID: 61096
FusionGDB2.0 ID: 61096
HgeneTgene
Gene symbol

NUP88

NLRP1

Gene ID

4927

22861

Gene namenucleoporin 88NLR family pyrin domain containing 1
SynonymsFADS4AIADK|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
Descriptionnuclear pore complex protein Nup88karyoporinnuclear pore complex protein 88nucleoporin 88kDanucleoporin Nup88NACHT, 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 date2020032220200322
UniProtAcc.

P59046

Ensembl transtripts involved in fusion geneENST idsENST00000573584, ENST00000573169, 
ENST00000571307, ENST00000354411, 
ENST00000577119, ENST00000262467, 
ENST00000269280, ENST00000345221, 
ENST00000572272, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score5 X 5 X 3=7511 X 7 X 7=539
# samples 511
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/539*10)=-2.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: NUP88 [Title/Abstract] AND NLRP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)NUP88(5319833)-NLRP1(5440260), # samples:1
Anticipated loss of major functional domain due to fusion event.NUP88-NLRP1 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.
NUP88-NLRP1 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.
NUP88-NLRP1 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.
NUP88-NLRP1 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.
* 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
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 NUP88 (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 NLRP1 (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
ChimerDB4BLCATCGA-KQ-A41N-01ANUP88chr17

5319833

-NLRP1chr17

5440260

-


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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)
ENST00000573584NUP88chr175319833-ENST00000262467NLRP1chr175440260-26649774532234593
ENST00000573584NUP88chr175319833-ENST00000345221NLRP1chr175440260-30329774532396647
ENST00000573584NUP88chr175319833-ENST00000269280NLRP1chr175440260-30249774532396647
ENST00000573584NUP88chr175319833-ENST00000572272NLRP1chr175440260-25299774532528691

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
ENST00000573584ENST00000262467NUP88chr175319833-NLRP1chr175440260-0.0047061480.9952938
ENST00000573584ENST00000345221NUP88chr175319833-NLRP1chr175440260-0.005688630.99431133
ENST00000573584ENST00000269280NUP88chr175319833-NLRP1chr175440260-0.0057395180.99426055
ENST00000573584ENST00000572272NUP88chr175319833-NLRP1chr175440260-0.0064074540.99359256

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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

>61096_61096_1_NUP88-NLRP1_NUP88_chr17_5319833_ENST00000573584_NLRP1_chr17_5440260_ENST00000262467_length(amino acids)=593AA_BP=174
MAVLSGGLSNWSEGSSWAKMAAAEGPVGDGELWQTWLPNHVVFLRLREGLKNQSPTEAEKPASSSLPSSPPPQLLTRNVVFGLGGELFLW
DGEDSSFLVVRLRGPSGGGEEPALSQYQRLLCINPPLFEIYQVLLSPTQHHVALIGIKGLMVLELPKRWGKNSEFEGGKSTVNCRLDQTT
LSDEMRQELRALEQEKPQLLIFSRRKPSVMTPTEGLDTGEMSNSTSSLKRQRLGSERAASHVAQANLKLLDVSKIFPIAEIAGKSHEESS
PEVVPVELLCVPSPASQGDLHTKPLGTDDDFWGPTGPVATEVVDKEKNLYRVHFPVAGSYRWPNTGLCFVMREAVTVEIEFCVWDQFLGE
INPQHSWMVAGPLLDIKAEPGAVEAVHLPHFVALQGGHVDTSLFQMAHFKEEGMLLEKPARVELHHIVLENPSFSPLGVLLKMIHNALRF
IPVTSVVLLYHRVHPEEVTFHLYLIPSDCSIRKAIDDLEMKFQFVRIHKPPPLTPLYMGCRYTVSGSGSGMLEILPKELELCYRSPGEDQ

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

>61096_61096_2_NUP88-NLRP1_NUP88_chr17_5319833_ENST00000573584_NLRP1_chr17_5440260_ENST00000269280_length(amino acids)=647AA_BP=174
MAVLSGGLSNWSEGSSWAKMAAAEGPVGDGELWQTWLPNHVVFLRLREGLKNQSPTEAEKPASSSLPSSPPPQLLTRNVVFGLGGELFLW
DGEDSSFLVVRLRGPSGGGEEPALSQYQRLLCINPPLFEIYQVLLSPTQHHVALIGIKGLMVLELPKRWGKNSEFEGGKSTVNCRLDQTT
LSDEMRQELRALEQEKPQLLIFSRRKPSVMTPTEGLDTGEMSNSTSSLKRQRLGSERAASHVAQANLKLLDVSKIFPIAEIAEESSPEVV
PVELLCVPSPASQGDLHTKPLGTDDDFWGPTGPVATEVVDKEKNLYRVHFPVAGSYRWPNTGLCFVMREAVTVEIEFCVWDQFLGEINPQ
HSWMVAGPLLDIKAEPGAVEAVHLPHFVALQGGHVDTSLFQMAHFKEEGMLLEKPARVELHHIVLENPSFSPLGVLLKMIHNALRFIPVT
SVVLLYHRVHPEEVTFHLYLIPSDCSIRKELELCYRSPGEDQLFSEFYVGHLGSGIRLQVKDKKDETLVWEALVKPGDLMPATTLIPPAR
IAVPSPLDAPQLLHFVDQYREQLIARVTSVEVVLDKLHGQVLSQEQYERVLAENTRPSQMRKLFSLSQSWDRKCKDGLYQALKETHPHLI

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

>61096_61096_3_NUP88-NLRP1_NUP88_chr17_5319833_ENST00000573584_NLRP1_chr17_5440260_ENST00000345221_length(amino acids)=647AA_BP=174
MAVLSGGLSNWSEGSSWAKMAAAEGPVGDGELWQTWLPNHVVFLRLREGLKNQSPTEAEKPASSSLPSSPPPQLLTRNVVFGLGGELFLW
DGEDSSFLVVRLRGPSGGGEEPALSQYQRLLCINPPLFEIYQVLLSPTQHHVALIGIKGLMVLELPKRWGKNSEFEGGKSTVNCRLDQTT
LSDEMRQELRALEQEKPQLLIFSRRKPSVMTPTEGLDTGEMSNSTSSLKRQRLGSERAASHVAQANLKLLDVSKIFPIAEIAEESSPEVV
PVELLCVPSPASQGDLHTKPLGTDDDFWGPTGPVATEVVDKEKNLYRVHFPVAGSYRWPNTGLCFVMREAVTVEIEFCVWDQFLGEINPQ
HSWMVAGPLLDIKAEPGAVEAVHLPHFVALQGGHVDTSLFQMAHFKEEGMLLEKPARVELHHIVLENPSFSPLGVLLKMIHNALRFIPVT
SVVLLYHRVHPEEVTFHLYLIPSDCSIRKELELCYRSPGEDQLFSEFYVGHLGSGIRLQVKDKKDETLVWEALVKPGDLMPATTLIPPAR
IAVPSPLDAPQLLHFVDQYREQLIARVTSVEVVLDKLHGQVLSQEQYERVLAENTRPSQMRKLFSLSQSWDRKCKDGLYQALKETHPHLI

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

>61096_61096_4_NUP88-NLRP1_NUP88_chr17_5319833_ENST00000573584_NLRP1_chr17_5440260_ENST00000572272_length(amino acids)=691AA_BP=174
MAVLSGGLSNWSEGSSWAKMAAAEGPVGDGELWQTWLPNHVVFLRLREGLKNQSPTEAEKPASSSLPSSPPPQLLTRNVVFGLGGELFLW
DGEDSSFLVVRLRGPSGGGEEPALSQYQRLLCINPPLFEIYQVLLSPTQHHVALIGIKGLMVLELPKRWGKNSEFEGGKSTVNCRLDQTT
LSDEMRQELRALEQEKPQLLIFSRRKPSVMTPTEGLDTGEMSNSTSSLKRQRLGSERAASHVAQANLKLLDVSKIFPIAEIAEESSPEVV
PVELLCVPSPASQGDLHTKPLGTDDDFWGPTGPVATEVVDKEKNLYRVHFPVAGSYRWPNTGLCFVMREAVTVEIEFCVWDQFLGEINPQ
HSWMVAGPLLDIKAEPGAVEAVHLPHFVALQGGHVDTSLFQMAHFKEEGMLLEKPARVELHHIVLENPSFSPLGVLLKMIHNALRFIPVT
SVVLLYHRVHPEEVTFHLYLIPSDCSIRKAIDDLEMKFQFVRIHKPPPLTPLYMGCRYTVSGSGSGMLEILPKELELCYRSPGEDQLFSE
FYVGHLGSGIRLQVKDKKDETLVWEALVKPGDLMPATTLIPPARIAVPSPLDAPQLLHFVDQYREQLIARVTSVEVVLDKLHGQVLSQEQ

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

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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/chr17:5319833/chr17:5440260)
- 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

P59046

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneNLRP1chr17:5319833chr17:5440260ENST000002692807171079_1364956.66666666666661430.0DomainFIIND
TgeneNLRP1chr17:5319833chr17:5440260ENST000002692807171374_1463956.66666666666661430.0DomainCARD
TgeneNLRP1chr17:5319833chr17:5440260ENST000003452216161079_1364956.66666666666661430.0DomainFIIND
TgeneNLRP1chr17:5319833chr17:5440260ENST000003452216161374_1463956.66666666666661430.0DomainCARD
TgeneNLRP1chr17:5319833chr17:5440260ENST000003544110161079_13640.01444.0DomainFIIND
TgeneNLRP1chr17:5319833chr17:5440260ENST000003544110161374_14630.01444.0DomainCARD
TgeneNLRP1chr17:5319833chr17:5440260ENST000003544110161_920.01444.0DomainPyrin
TgeneNLRP1chr17:5319833chr17:5440260ENST00000354411016328_6370.01444.0DomainNACHT
TgeneNLRP1chr17:5319833chr17:5440260ENST000005722726171079_1364956.66666666666661474.0DomainFIIND
TgeneNLRP1chr17:5319833chr17:5440260ENST000005722726171374_1463956.66666666666661474.0DomainCARD
TgeneNLRP1chr17:5319833chr17:5440260ENST000005771190151079_13640.01400.0DomainFIIND
TgeneNLRP1chr17:5319833chr17:5440260ENST000005771190151374_14630.01400.0DomainCARD
TgeneNLRP1chr17:5319833chr17:5440260ENST000005771190151_920.01400.0DomainPyrin
TgeneNLRP1chr17:5319833chr17:5440260ENST00000577119015328_6370.01400.0DomainNACHT
TgeneNLRP1chr17:5319833chr17:5440260ENST00000354411016334_3410.01444.0Nucleotide bindingATP
TgeneNLRP1chr17:5319833chr17:5440260ENST00000577119015334_3410.01400.0Nucleotide bindingATP
TgeneNLRP1chr17:5319833chr17:5440260ENST00000354411016809_8300.01444.0RepeatNote=LRR 1
TgeneNLRP1chr17:5319833chr17:5440260ENST00000354411016838_8580.01444.0RepeatNote=LRR 2
TgeneNLRP1chr17:5319833chr17:5440260ENST00000354411016866_8870.01444.0RepeatNote=LRR 3
TgeneNLRP1chr17:5319833chr17:5440260ENST00000354411016895_9150.01444.0RepeatNote=LRR 4
TgeneNLRP1chr17:5319833chr17:5440260ENST00000354411016923_9440.01444.0RepeatNote=LRR 5
TgeneNLRP1chr17:5319833chr17:5440260ENST00000354411016950_9730.01444.0RepeatNote=LRR 6
TgeneNLRP1chr17:5319833chr17:5440260ENST00000577119015809_8300.01400.0RepeatNote=LRR 1
TgeneNLRP1chr17:5319833chr17:5440260ENST00000577119015838_8580.01400.0RepeatNote=LRR 2
TgeneNLRP1chr17:5319833chr17:5440260ENST00000577119015866_8870.01400.0RepeatNote=LRR 3
TgeneNLRP1chr17:5319833chr17:5440260ENST00000577119015895_9150.01400.0RepeatNote=LRR 4
TgeneNLRP1chr17:5319833chr17:5440260ENST00000577119015923_9440.01400.0RepeatNote=LRR 5
TgeneNLRP1chr17:5319833chr17:5440260ENST00000577119015950_9730.01400.0RepeatNote=LRR 6

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNUP88chr17:5319833chr17:5440260ENST00000573584-217585_651155.66666666666666742.0Coiled coilOntology_term=ECO:0000255
TgeneNLRP1chr17:5319833chr17:5440260ENST000002692807171_92956.66666666666661430.0DomainPyrin
TgeneNLRP1chr17:5319833chr17:5440260ENST00000269280717328_637956.66666666666661430.0DomainNACHT
TgeneNLRP1chr17:5319833chr17:5440260ENST000003452216161_92956.66666666666661430.0DomainPyrin
TgeneNLRP1chr17:5319833chr17:5440260ENST00000345221616328_637956.66666666666661430.0DomainNACHT
TgeneNLRP1chr17:5319833chr17:5440260ENST000005722726171_92956.66666666666661474.0DomainPyrin
TgeneNLRP1chr17:5319833chr17:5440260ENST00000572272617328_637956.66666666666661474.0DomainNACHT
TgeneNLRP1chr17:5319833chr17:5440260ENST00000269280717334_341956.66666666666661430.0Nucleotide bindingATP
TgeneNLRP1chr17:5319833chr17:5440260ENST00000345221616334_341956.66666666666661430.0Nucleotide bindingATP
TgeneNLRP1chr17:5319833chr17:5440260ENST00000572272617334_341956.66666666666661474.0Nucleotide bindingATP
TgeneNLRP1chr17:5319833chr17:5440260ENST00000269280717809_830956.66666666666661430.0RepeatNote=LRR 1
TgeneNLRP1chr17:5319833chr17:5440260ENST00000269280717838_858956.66666666666661430.0RepeatNote=LRR 2
TgeneNLRP1chr17:5319833chr17:5440260ENST00000269280717866_887956.66666666666661430.0RepeatNote=LRR 3
TgeneNLRP1chr17:5319833chr17:5440260ENST00000269280717895_915956.66666666666661430.0RepeatNote=LRR 4
TgeneNLRP1chr17:5319833chr17:5440260ENST00000269280717923_944956.66666666666661430.0RepeatNote=LRR 5
TgeneNLRP1chr17:5319833chr17:5440260ENST00000269280717950_973956.66666666666661430.0RepeatNote=LRR 6
TgeneNLRP1chr17:5319833chr17:5440260ENST00000345221616809_830956.66666666666661430.0RepeatNote=LRR 1
TgeneNLRP1chr17:5319833chr17:5440260ENST00000345221616838_858956.66666666666661430.0RepeatNote=LRR 2
TgeneNLRP1chr17:5319833chr17:5440260ENST00000345221616866_887956.66666666666661430.0RepeatNote=LRR 3
TgeneNLRP1chr17:5319833chr17:5440260ENST00000345221616895_915956.66666666666661430.0RepeatNote=LRR 4
TgeneNLRP1chr17:5319833chr17:5440260ENST00000345221616923_944956.66666666666661430.0RepeatNote=LRR 5
TgeneNLRP1chr17:5319833chr17:5440260ENST00000345221616950_973956.66666666666661430.0RepeatNote=LRR 6
TgeneNLRP1chr17:5319833chr17:5440260ENST00000572272617809_830956.66666666666661474.0RepeatNote=LRR 1
TgeneNLRP1chr17:5319833chr17:5440260ENST00000572272617838_858956.66666666666661474.0RepeatNote=LRR 2
TgeneNLRP1chr17:5319833chr17:5440260ENST00000572272617866_887956.66666666666661474.0RepeatNote=LRR 3
TgeneNLRP1chr17:5319833chr17:5440260ENST00000572272617895_915956.66666666666661474.0RepeatNote=LRR 4
TgeneNLRP1chr17:5319833chr17:5440260ENST00000572272617923_944956.66666666666661474.0RepeatNote=LRR 5
TgeneNLRP1chr17:5319833chr17:5440260ENST00000572272617950_973956.66666666666661474.0RepeatNote=LRR 6


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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
NUP88
NLRP1


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 NUP88-NLRP1


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 NUP88-NLRP1


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