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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:R3HDM4-NLRP1 (FusionGDB2 ID:71105)

Fusion Gene Summary for R3HDM4-NLRP1

check button Fusion gene summary
Fusion gene informationFusion gene name: R3HDM4-NLRP1
Fusion gene ID: 71105
HgeneTgene
Gene symbol

R3HDM4

NLRP1

Gene ID

91300

22861

Gene nameR3H domain containing 4NLR family pyrin domain containing 1
SynonymsC19orf22AIADK|CARD7|CIDED|CLR17.1|DEFCAP|DEFCAP-L/S|JRRP|MSPC|NAC|NALP1|PP1044|SLEV1|VAMAS1
Cytomap

19p13.3

17p13.2

Type of geneprotein-codingprotein-coding
DescriptionR3H domain-containing protein 4R3H domain-containing protein C19orf22NACHT, 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

Q96D70

P59046

Ensembl transtripts involved in fusion geneENST00000361574, ENST00000587975, 
ENST00000269280, ENST00000345221, 
ENST00000354411, ENST00000571307, 
ENST00000572272, ENST00000577119, 
ENST00000262467, 
Fusion gene scores* DoF score4 X 3 X 5=6011 X 7 X 7=539
# samples 711
** MAII scorelog2(7/60*10)=0.222392421336448
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
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

PubMed: R3HDM4 [Title/Abstract] AND NLRP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointR3HDM4(900829)-NLRP1(5405192), # samples:2
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
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 R3HDM4 (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

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
ChimerDB4SKCMTCGA-D3-A2JG-06AR3HDM4chr19

900829

-NLRP1chr17

5405192

-


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Fusion Gene ORF analysis for R3HDM4-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
5CDS-intronENST00000361574ENST00000269280R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000361574ENST00000345221R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000361574ENST00000354411R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000361574ENST00000571307R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000361574ENST00000572272R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000361574ENST00000577119R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000587975ENST00000269280R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000587975ENST00000345221R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000587975ENST00000354411R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000587975ENST00000571307R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000587975ENST00000572272R3HDM4chr19

900829

-NLRP1chr17

5405192

-
5CDS-intronENST00000587975ENST00000577119R3HDM4chr19

900829

-NLRP1chr17

5405192

-
In-frameENST00000361574ENST00000262467R3HDM4chr19

900829

-NLRP1chr17

5405192

-
In-frameENST00000587975ENST00000262467R3HDM4chr19

900829

-NLRP1chr17

5405192

-

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)
ENST00000361574R3HDM4chr19900829-ENST00000262467NLRP1chr175405192-103754917607196
ENST00000587975R3HDM4chr19900829-ENST00000262467NLRP1chr175405192-98349526553175

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
ENST00000361574ENST00000262467R3HDM4chr19900829-NLRP1chr175405192-0.029514760.9704852
ENST00000587975ENST00000262467R3HDM4chr19900829-NLRP1chr175405192-0.0236529950.97634697

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Fusion Genomic Features for R3HDM4-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.
genomic feature

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 R3HDM4-NLRP1


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/chr19:900829/chr17:5405192)
- 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
R3HDM4

Q96D70

NLRP1

P59046

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
TgeneNLRP1chr19:900829chr17:5405192ENST000002692800171079_136401430.0DomainFIIND
TgeneNLRP1chr19:900829chr17:5405192ENST000002692800171374_146301430.0DomainCARD
TgeneNLRP1chr19:900829chr17:5405192ENST000002692800171_9201430.0DomainPyrin
TgeneNLRP1chr19:900829chr17:5405192ENST00000269280017328_63701430.0DomainNACHT
TgeneNLRP1chr19:900829chr17:5405192ENST000003452210161079_136401430.0DomainFIIND
TgeneNLRP1chr19:900829chr17:5405192ENST000003452210161374_146301430.0DomainCARD
TgeneNLRP1chr19:900829chr17:5405192ENST000003452210161_9201430.0DomainPyrin
TgeneNLRP1chr19:900829chr17:5405192ENST00000345221016328_63701430.0DomainNACHT
TgeneNLRP1chr19:900829chr17:5405192ENST000003544110161079_136401444.0DomainFIIND
TgeneNLRP1chr19:900829chr17:5405192ENST000003544110161374_146301444.0DomainCARD
TgeneNLRP1chr19:900829chr17:5405192ENST000003544110161_9201444.0DomainPyrin
TgeneNLRP1chr19:900829chr17:5405192ENST00000354411016328_63701444.0DomainNACHT
TgeneNLRP1chr19:900829chr17:5405192ENST000005722720171079_136401474.0DomainFIIND
TgeneNLRP1chr19:900829chr17:5405192ENST000005722720171374_146301474.0DomainCARD
TgeneNLRP1chr19:900829chr17:5405192ENST000005722720171_9201474.0DomainPyrin
TgeneNLRP1chr19:900829chr17:5405192ENST00000572272017328_63701474.0DomainNACHT
TgeneNLRP1chr19:900829chr17:5405192ENST000005771190151079_136401400.0DomainFIIND
TgeneNLRP1chr19:900829chr17:5405192ENST000005771190151374_146301400.0DomainCARD
TgeneNLRP1chr19:900829chr17:5405192ENST000005771190151_9201400.0DomainPyrin
TgeneNLRP1chr19:900829chr17:5405192ENST00000577119015328_63701400.0DomainNACHT
TgeneNLRP1chr19:900829chr17:5405192ENST00000269280017334_34101430.0Nucleotide bindingATP
TgeneNLRP1chr19:900829chr17:5405192ENST00000345221016334_34101430.0Nucleotide bindingATP
TgeneNLRP1chr19:900829chr17:5405192ENST00000354411016334_34101444.0Nucleotide bindingATP
TgeneNLRP1chr19:900829chr17:5405192ENST00000572272017334_34101474.0Nucleotide bindingATP
TgeneNLRP1chr19:900829chr17:5405192ENST00000577119015334_34101400.0Nucleotide bindingATP
TgeneNLRP1chr19:900829chr17:5405192ENST00000269280017809_83001430.0RepeatNote=LRR 1
TgeneNLRP1chr19:900829chr17:5405192ENST00000269280017838_85801430.0RepeatNote=LRR 2
TgeneNLRP1chr19:900829chr17:5405192ENST00000269280017866_88701430.0RepeatNote=LRR 3
TgeneNLRP1chr19:900829chr17:5405192ENST00000269280017895_91501430.0RepeatNote=LRR 4
TgeneNLRP1chr19:900829chr17:5405192ENST00000269280017923_94401430.0RepeatNote=LRR 5
TgeneNLRP1chr19:900829chr17:5405192ENST00000269280017950_97301430.0RepeatNote=LRR 6
TgeneNLRP1chr19:900829chr17:5405192ENST00000345221016809_83001430.0RepeatNote=LRR 1
TgeneNLRP1chr19:900829chr17:5405192ENST00000345221016838_85801430.0RepeatNote=LRR 2
TgeneNLRP1chr19:900829chr17:5405192ENST00000345221016866_88701430.0RepeatNote=LRR 3
TgeneNLRP1chr19:900829chr17:5405192ENST00000345221016895_91501430.0RepeatNote=LRR 4
TgeneNLRP1chr19:900829chr17:5405192ENST00000345221016923_94401430.0RepeatNote=LRR 5
TgeneNLRP1chr19:900829chr17:5405192ENST00000345221016950_97301430.0RepeatNote=LRR 6
TgeneNLRP1chr19:900829chr17:5405192ENST00000354411016809_83001444.0RepeatNote=LRR 1
TgeneNLRP1chr19:900829chr17:5405192ENST00000354411016838_85801444.0RepeatNote=LRR 2
TgeneNLRP1chr19:900829chr17:5405192ENST00000354411016866_88701444.0RepeatNote=LRR 3
TgeneNLRP1chr19:900829chr17:5405192ENST00000354411016895_91501444.0RepeatNote=LRR 4
TgeneNLRP1chr19:900829chr17:5405192ENST00000354411016923_94401444.0RepeatNote=LRR 5
TgeneNLRP1chr19:900829chr17:5405192ENST00000354411016950_97301444.0RepeatNote=LRR 6
TgeneNLRP1chr19:900829chr17:5405192ENST00000572272017809_83001474.0RepeatNote=LRR 1
TgeneNLRP1chr19:900829chr17:5405192ENST00000572272017838_85801474.0RepeatNote=LRR 2
TgeneNLRP1chr19:900829chr17:5405192ENST00000572272017866_88701474.0RepeatNote=LRR 3
TgeneNLRP1chr19:900829chr17:5405192ENST00000572272017895_91501474.0RepeatNote=LRR 4
TgeneNLRP1chr19:900829chr17:5405192ENST00000572272017923_94401474.0RepeatNote=LRR 5
TgeneNLRP1chr19:900829chr17:5405192ENST00000572272017950_97301474.0RepeatNote=LRR 6
TgeneNLRP1chr19:900829chr17:5405192ENST00000577119015809_83001400.0RepeatNote=LRR 1
TgeneNLRP1chr19:900829chr17:5405192ENST00000577119015838_85801400.0RepeatNote=LRR 2
TgeneNLRP1chr19:900829chr17:5405192ENST00000577119015866_88701400.0RepeatNote=LRR 3
TgeneNLRP1chr19:900829chr17:5405192ENST00000577119015895_91501400.0RepeatNote=LRR 4
TgeneNLRP1chr19:900829chr17:5405192ENST00000577119015923_94401400.0RepeatNote=LRR 5
TgeneNLRP1chr19:900829chr17:5405192ENST00000577119015950_97301400.0RepeatNote=LRR 6

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneR3HDM4chr19:900829chr17:5405192ENST00000361574-48132_184158269.0Compositional biasNote=Arg-rich
HgeneR3HDM4chr19:900829chr17:5405192ENST00000361574-48187_250158269.0DomainR3H


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Fusion Gene Sequence for R3HDM4-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.
>71105_71105_1_R3HDM4-NLRP1_R3HDM4_chr19_900829_ENST00000361574_NLRP1_chr17_5405192_ENST00000262467_length(transcript)=1037nt_BP=549nt
CGGGCGCCCGTCACTTCCTGCCCGGCCCGGTGAAGGCCCTGCCGGGCGGCGGCGGCGGCGACAGCGTGCGAGCCATGGTCGCGCTGGAGA
ACCCCGAGTGCGGCCCGGAGGCGGCGGAGGGCACCCCGGGCGGGCGGCGGCTGCTGCCCCTTCCCAGCTGCCTGCCTGCCCTAGCCAGCT
CCCAGGTGAAGAGACTCTCGGCTTCCAGGCGGAAACAGCACTTCATCAACCAGGCAGTGCGGAACTCAGACCTCGTGCCCAAGGCCAAGG
GGCGGAAGAGCCTCCAGCGCCTGGAGAACACCCAGTACCTCCTGACCCTGCTGGAGACAGACGGGGGCCTGCCTGGCCTGGAGGATGGGG
ACTTGGCACCCCCTGCATCACCAGGCATCTTTGCCGAGGCCTGCAACAACGCCACCTATGTGGAGGTCTGGAACGATTTCATGAACCGCT
CCGGGGAGGAGCAGGAGCGGGTTCTTCGCTACCTGGAGGATGAGGGCAGGAGCAAGGCGCGGAGGAGGGGCCCTGGCCGTGGGGAGGACC
GGAGGAGAGGAAGGAACACCAGCCAGCCGTGGAACCTCAGGTGCAACAGAGACGCCAGGAGATACTAGTGCCCAGCAGCCTGCGGCAGTA
CCAATGAAGCCAGAGAGGGCTTGGTGGATGACAAGGAGGCCTGAGTAGACCGCAGGTGGGTCTGAGAAATGGGCTTAGGTGAGGCAGGTC
TTTGAAGGATTTGTTCTTAATCATATGCGAGATGCTCAAAAGGCTGGATGCCTGCTTTTGTGGGTGAAGAGCAAGAAGAGAAAACAGGTT
GTACACATACAGATGCAGATGGAGAGACAGAGAAAAAAAAGGAAGAAGGCAGAGAAATGCACCAATTCTTGAGCTGTATTATCTCTGGAC
CTTGGGATTGTGGGAGGCTTTATTTTACTACTGATTTTGCCTACACTGTTTTCTCAATTTCTAGTTTTCTACAAAGATGATGTGTTAGCT

>71105_71105_1_R3HDM4-NLRP1_R3HDM4_chr19_900829_ENST00000361574_NLRP1_chr17_5405192_ENST00000262467_length(amino acids)=196AA_BP=177
MPGPVKALPGGGGGDSVRAMVALENPECGPEAAEGTPGGRRLLPLPSCLPALASSQVKRLSASRRKQHFINQAVRNSDLVPKAKGRKSLQ
RLENTQYLLTLLETDGGLPGLEDGDLAPPASPGIFAEACNNATYVEVWNDFMNRSGEEQERVLRYLEDEGRSKARRRGPGRGEDRRRGRN

--------------------------------------------------------------
>71105_71105_2_R3HDM4-NLRP1_R3HDM4_chr19_900829_ENST00000587975_NLRP1_chr17_5405192_ENST00000262467_length(transcript)=983nt_BP=495nt
GCCCGCCTCCGGGCGCCCGTCACTTCCTGCCCGGCCCGGTGAAGGCCCTGCCGGGCGGCGGCGGCGGCGACAGCGTGCGAGCCATGGTCG
CGCTGGAGAACCCCGAGTGCGGCCCGGAGGCGGCGGAGGGCACCCCGGGCGGGCGGCGGCTGCTGCGGAAACAGCACTTCATCAACCAGG
CAGTGCGGAACTCAGACCTCGTGCCCAAGGCCAAGGGGCGGAAGAGCCTCCAGCGCCTGGAGAACACCCAGTACCTCCTGACCCTGCTGG
AGACAGACGGGGGCCTGCCTGGCCTGGAGGATGGGGACTTGGCACCCCCTGCATCACCAGGCATCTTTGCCGAGGCCTGCAACAACGCCA
CCTATGTGGAGGTCTGGAACGATTTCATGAACCGCTCCGGGGAGGAGCAGGAGCGGGTTCTTCGCTACCTGGAGGATGAGGGCAGGAGCA
AGGCGCGGAGGAGGGGCCCTGGCCGTGGGGAGGACCGGAGGAGAGGAAGGAACACCAGCCAGCCGTGGAACCTCAGGTGCAACAGAGACG
CCAGGAGATACTAGTGCCCAGCAGCCTGCGGCAGTACCAATGAAGCCAGAGAGGGCTTGGTGGATGACAAGGAGGCCTGAGTAGACCGCA
GGTGGGTCTGAGAAATGGGCTTAGGTGAGGCAGGTCTTTGAAGGATTTGTTCTTAATCATATGCGAGATGCTCAAAAGGCTGGATGCCTG
CTTTTGTGGGTGAAGAGCAAGAAGAGAAAACAGGTTGTACACATACAGATGCAGATGGAGAGACAGAGAAAAAAAAGGAAGAAGGCAGAG
AAATGCACCAATTCTTGAGCTGTATTATCTCTGGACCTTGGGATTGTGGGAGGCTTTATTTTACTACTGATTTTGCCTACACTGTTTTCT

>71105_71105_2_R3HDM4-NLRP1_R3HDM4_chr19_900829_ENST00000587975_NLRP1_chr17_5405192_ENST00000262467_length(amino acids)=175AA_BP=156
MPGPVKALPGGGGGDSVRAMVALENPECGPEAAEGTPGGRRLLRKQHFINQAVRNSDLVPKAKGRKSLQRLENTQYLLTLLETDGGLPGL

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

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Fusion Gene PPI Analysis for R3HDM4-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 R3HDM4-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 R3HDM4-NLRP1


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