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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:PNPT1-FBXO11

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PNPT1-FBXO11
FusionPDB ID: 66797
FusionGDB2.0 ID: 66797
HgeneTgene
Gene symbol

PNPT1

FBXO11

Gene ID

87178

80204

Gene namepolyribonucleotide nucleotidyltransferase 1F-box protein 11
SynonymsCOXPD13|DFNB70|OLD35|PNPASE|old-35FBX11|IDDFBA|PRMT9|UBR6|UG063H01|VIT1
Cytomap

2p16.1

2p16.3

Type of geneprotein-codingprotein-coding
Descriptionpolyribonucleotide nucleotidyltransferase 1, mitochondrial3'-5' RNA exonuclease OLD35PNPase 1PNPase old-35polynucleotide phosphorylase 1polynucleotide phosphorylase-like proteinF-box only protein 11protein arginine N-methyltransferase 9ubiquitin protein ligase E3 component n-recognin 6vitiligo-associated protein 1vitiligo-associated protein VIT-1
Modification date2020031320200327
UniProtAcc.

Q86XK2

Ensembl transtripts involved in fusion geneENST idsENST00000447944, ENST00000434523, 
ENST00000378314, ENST00000405808, 
ENST00000480038, ENST00000316377, 
ENST00000402508, ENST00000403359, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score3 X 4 X 2=248 X 12 X 6=576
# samples 415
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(15/576*10)=-1.94110631094643
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: PNPT1 [Title/Abstract] AND FBXO11 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PNPT1(55910919)-FBXO11(48050499), # samples:1
Anticipated loss of major functional domain due to fusion event.PNPT1-FBXO11 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.
PNPT1-FBXO11 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.
PNPT1-FBXO11 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.
PNPT1-FBXO11 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
HgenePNPT1

GO:0000957

mitochondrial RNA catabolic process

18501193

HgenePNPT1

GO:0000958

mitochondrial mRNA catabolic process

20691904

HgenePNPT1

GO:0000962

positive regulation of mitochondrial RNA catabolic process

19509288|29967381

HgenePNPT1

GO:0006401

RNA catabolic process

18083836

HgenePNPT1

GO:0006402

mRNA catabolic process

12721301|16055741

HgenePNPT1

GO:0034599

cellular response to oxidative stress

18501193

HgenePNPT1

GO:0035458

cellular response to interferon-beta

16410805

HgenePNPT1

GO:0035927

RNA import into mitochondrion

20691904

HgenePNPT1

GO:0035928

rRNA import into mitochondrion

20691904

HgenePNPT1

GO:0043631

RNA polyadenylation

18083836

HgenePNPT1

GO:0045926

negative regulation of growth

12721301

HgenePNPT1

GO:0051260

protein homooligomerization

20691904

HgenePNPT1

GO:0070207

protein homotrimerization

19509288|20691904

HgenePNPT1

GO:0071042

nuclear polyadenylation-dependent mRNA catabolic process

16934922

HgenePNPT1

GO:0071850

mitotic cell cycle arrest

12721301

HgenePNPT1

GO:2000627

positive regulation of miRNA catabolic process

20547861

HgenePNPT1

GO:2000772

regulation of cellular senescence

16055741

TgeneFBXO11

GO:0006464

cellular protein modification process

16487488


check buttonFusion gene breakpoints across PNPT1 (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 FBXO11 (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
ChimerDB4STADTCGA-D7-A6F2PNPT1chr2

55910919

-FBXO11chr2

48050499

-


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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)
ENST00000447944PNPT1chr255910919-ENST00000402508FBXO11chr248050499-3124540871925612
ENST00000447944PNPT1chr255910919-ENST00000403359FBXO11chr248050499-3124540871925612
ENST00000447944PNPT1chr255910919-ENST00000316377FBXO11chr248050499-3120540871925612

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
ENST00000447944ENST00000402508PNPT1chr255910919-FBXO11chr248050499-0.0004916320.9995084
ENST00000447944ENST00000403359PNPT1chr255910919-FBXO11chr248050499-0.0004916320.9995084
ENST00000447944ENST00000316377PNPT1chr255910919-FBXO11chr248050499-0.000489740.9995103

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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

>66797_66797_1_PNPT1-FBXO11_PNPT1_chr2_55910919_ENST00000447944_FBXO11_chr2_48050499_ENST00000316377_length(amino acids)=612AA_BP=150
MAACRYCCSCLRLRPLSDGPFLLPRRDRALTQLQVRALWSSAGSRAVAVDLGNRKLEISSGKLARFADGSAVVQSGDTAVMVTAVSKTKP
SPSQFMPLVVDYRQKAAAAGRIPTNYLRREIGTSDKEILTSRIIDRSIRPLFPAGYFYDTQGYFESCNIHRNRIAGFEVKAYANPTVVRC
EIHHGQTGGIYVHEKGRGQFIENKIYANNFAGVWITSNSDPTIRGNSIFNGNQGGVYIFGDGRGLIEGNDIYGNALAGIQIRTNSCPIVR
HNKIHDGQHGGIYVHEKGQGVIEENEVYSNTLAGVWVTTGSTPVLRRNRIHSGKQVGVYFYDNGHGVLEDNDIYNHMYSGVQIRTGSNPK
IRRNKIWGGQNGGILVYNSGLGCIEDNEIFDNAMAGVWIKTDSNPTLRRNKIHDGRDGGICIFNGGRGLLEENDIFRNAQAGVLISTNSH
PILRKNRIFDGFAAGIEITNHATATLEGNQIFNNRFGGLFLASGVNVTMKDNKIMNNQDAIEKAVSRGQCLYKISSYTSYPMHDFYRCHT

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

>66797_66797_2_PNPT1-FBXO11_PNPT1_chr2_55910919_ENST00000447944_FBXO11_chr2_48050499_ENST00000402508_length(amino acids)=612AA_BP=150
MAACRYCCSCLRLRPLSDGPFLLPRRDRALTQLQVRALWSSAGSRAVAVDLGNRKLEISSGKLARFADGSAVVQSGDTAVMVTAVSKTKP
SPSQFMPLVVDYRQKAAAAGRIPTNYLRREIGTSDKEILTSRIIDRSIRPLFPAGYFYDTQGYFESCNIHRNRIAGFEVKAYANPTVVRC
EIHHGQTGGIYVHEKGRGQFIENKIYANNFAGVWITSNSDPTIRGNSIFNGNQGGVYIFGDGRGLIEGNDIYGNALAGIQIRTNSCPIVR
HNKIHDGQHGGIYVHEKGQGVIEENEVYSNTLAGVWVTTGSTPVLRRNRIHSGKQVGVYFYDNGHGVLEDNDIYNHMYSGVQIRTGSNPK
IRRNKIWGGQNGGILVYNSGLGCIEDNEIFDNAMAGVWIKTDSNPTLRRNKIHDGRDGGICIFNGGRGLLEENDIFRNAQAGVLISTNSH
PILRKNRIFDGFAAGIEITNHATATLEGNQIFNNRFGGLFLASGVNVTMKDNKIMNNQDAIEKAVSRGQCLYKISSYTSYPMHDFYRCHT

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

>66797_66797_3_PNPT1-FBXO11_PNPT1_chr2_55910919_ENST00000447944_FBXO11_chr2_48050499_ENST00000403359_length(amino acids)=612AA_BP=150
MAACRYCCSCLRLRPLSDGPFLLPRRDRALTQLQVRALWSSAGSRAVAVDLGNRKLEISSGKLARFADGSAVVQSGDTAVMVTAVSKTKP
SPSQFMPLVVDYRQKAAAAGRIPTNYLRREIGTSDKEILTSRIIDRSIRPLFPAGYFYDTQGYFESCNIHRNRIAGFEVKAYANPTVVRC
EIHHGQTGGIYVHEKGRGQFIENKIYANNFAGVWITSNSDPTIRGNSIFNGNQGGVYIFGDGRGLIEGNDIYGNALAGIQIRTNSCPIVR
HNKIHDGQHGGIYVHEKGQGVIEENEVYSNTLAGVWVTTGSTPVLRRNRIHSGKQVGVYFYDNGHGVLEDNDIYNHMYSGVQIRTGSNPK
IRRNKIWGGQNGGILVYNSGLGCIEDNEIFDNAMAGVWIKTDSNPTLRRNKIHDGRDGGICIFNGGRGLLEENDIFRNAQAGVLISTNSH
PILRKNRIFDGFAAGIEITNHATATLEGNQIFNNRFGGLFLASGVNVTMKDNKIMNNQDAIEKAVSRGQCLYKISSYTSYPMHDFYRCHT

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

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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/chr2:55910919/chr2:48050499)
- 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
.FBXO11

Q86XK2

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: Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as DTL/CDT2, BCL6 and PRDM1/BLIMP1. The SCF(FBXO11) complex mediates ubiquitination and degradation of BCL6, thereby playing a role in the germinal center B-cells terminal differentiation toward memory B-cells and plasma cells. The SCF(FBXO11) complex also mediates ubiquitination and degradation of DTL, an important step for the regulation of TGF-beta signaling, cell migration and the timing of the cell-cycle progression and exit. Binds to and neddylates phosphorylated p53/TP53, inhibiting its transcriptional activity. SCF(FBXO11) does not seem to direct ubiquitination of p53/TP53. {ECO:0000269|PubMed:17098746, ECO:0000269|PubMed:22113614, ECO:0000269|PubMed:23478441, ECO:0000269|PubMed:23478445, ECO:0000269|PubMed:23892434, ECO:0000269|PubMed:24613396}.

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
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023395_417382.0844.0RepeatNote=PbH1 1
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023418_440382.0844.0RepeatNote=PbH1 2
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023441_463382.0844.0RepeatNote=PbH1 3
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023464_486382.0844.0RepeatNote=PbH1 4
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023487_509382.0844.0RepeatNote=PbH1 5
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023510_532382.0844.0RepeatNote=PbH1 6
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023533_555382.0844.0RepeatNote=PbH1 7
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023556_578382.0844.0RepeatNote=PbH1 8
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023579_601382.0844.0RepeatNote=PbH1 9
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023602_624382.0844.0RepeatNote=PbH1 10
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023625_647382.0844.0RepeatNote=PbH1 11
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023648_670382.0844.0RepeatNote=PbH1 12
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023671_693382.0844.0RepeatNote=PbH1 13
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023694_716382.0844.0RepeatNote=PbH1 14
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023717_739382.0844.0RepeatNote=PbH1 15
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023740_762382.0844.0RepeatNote=PbH1 16
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023763_785382.0844.0RepeatNote=PbH1 17
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023786_808382.0844.0RepeatNote=PbH1 18
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023809_830382.0844.0RepeatNote=PbH1 19
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023395_417382.0844.0RepeatNote=PbH1 1
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023418_440382.0844.0RepeatNote=PbH1 2
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023441_463382.0844.0RepeatNote=PbH1 3
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023464_486382.0844.0RepeatNote=PbH1 4
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023487_509382.0844.0RepeatNote=PbH1 5
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023510_532382.0844.0RepeatNote=PbH1 6
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023533_555382.0844.0RepeatNote=PbH1 7
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023556_578382.0844.0RepeatNote=PbH1 8
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023579_601382.0844.0RepeatNote=PbH1 9
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023602_624382.0844.0RepeatNote=PbH1 10
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023625_647382.0844.0RepeatNote=PbH1 11
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023648_670382.0844.0RepeatNote=PbH1 12
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023671_693382.0844.0RepeatNote=PbH1 13
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023694_716382.0844.0RepeatNote=PbH1 14
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023717_739382.0844.0RepeatNote=PbH1 15
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023740_762382.0844.0RepeatNote=PbH1 16
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023763_785382.0844.0RepeatNote=PbH1 17
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023786_808382.0844.0RepeatNote=PbH1 18
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023809_830382.0844.0RepeatNote=PbH1 19
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023464_486466.0928.0RepeatNote=PbH1 4
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023487_509466.0928.0RepeatNote=PbH1 5
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023510_532466.0928.0RepeatNote=PbH1 6
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023533_555466.0928.0RepeatNote=PbH1 7
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023556_578466.0928.0RepeatNote=PbH1 8
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023579_601466.0928.0RepeatNote=PbH1 9
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023602_624466.0928.0RepeatNote=PbH1 10
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023625_647466.0928.0RepeatNote=PbH1 11
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023648_670466.0928.0RepeatNote=PbH1 12
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023671_693466.0928.0RepeatNote=PbH1 13
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023694_716466.0928.0RepeatNote=PbH1 14
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023717_739466.0928.0RepeatNote=PbH1 15
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023740_762466.0928.0RepeatNote=PbH1 16
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023763_785466.0928.0RepeatNote=PbH1 17
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023786_808466.0928.0RepeatNote=PbH1 18
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023809_830466.0928.0RepeatNote=PbH1 19
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023833_904382.0844.0Zinc fingerUBR-type
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023833_904382.0844.0Zinc fingerUBR-type
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023833_904466.0928.0Zinc fingerUBR-type

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePNPT1chr2:55910919chr2:48050499ENST00000447944-528605_664151.0784.0DomainKH
HgenePNPT1chr2:55910919chr2:48050499ENST00000447944-528679_750151.0784.0DomainS1 motif
TgeneFBXO11chr2:55910919chr2:48050499ENST000003163771023153_199382.0844.0DomainF-box
TgeneFBXO11chr2:55910919chr2:48050499ENST000004025081023153_199382.0844.0DomainF-box
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023153_199466.0928.0DomainF-box
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023395_417466.0928.0RepeatNote=PbH1 1
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023418_440466.0928.0RepeatNote=PbH1 2
TgeneFBXO11chr2:55910919chr2:48050499ENST000004033591023441_463466.0928.0RepeatNote=PbH1 3


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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
PNPT1
FBXO11


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 PNPT1-FBXO11


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 PNPT1-FBXO11


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