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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:DICER1-PAPOLA

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: DICER1-PAPOLA
FusionPDB ID: 22793
FusionGDB2.0 ID: 22793
HgeneTgene
Gene symbol

DICER1

PAPOLA

Gene ID

23405

10914

Gene namedicer 1, ribonuclease IIIpoly(A) polymerase alpha
SynonymsDCR1|Dicer|Dicer1e|GLOW|HERNA|K12H4.8-LIKE|MNG1|RMSE2PAP|PAP-alpha
Cytomap

14q32.13

14q32.2

Type of geneprotein-codingprotein-coding
Descriptionendoribonuclease DicerDicer1, Dcr-1 homologdicer 1, double-stranded RNA-specific endoribonucleasedicer 1, ribonuclease type IIIhelicase MOIhelicase with RNAse motifpoly(A) polymerase alphapolynucleotide adenylyltransferase alpha
Modification date2020032920200313
UniProtAcc

Q9UPY3

.
Ensembl transtripts involved in fusion geneENST idsENST00000343455, ENST00000393063, 
ENST00000526495, ENST00000527414, 
ENST00000541352, ENST00000556045, 
ENST00000527416, 		ENST00000392990, 
ENST00000554130, ENST00000557320, 
ENST00000557471, ENST00000216277, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 8 X 10=10407 X 10 X 6=420
# samples 158
** MAII scorelog2(15/1040*10)=-2.79354912253257
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/420*10)=-2.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: DICER1 [Title/Abstract] AND PAPOLA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)DICER1(95569683)-PAPOLA(97008580), # samples:1
Anticipated loss of major functional domain due to fusion event.DICER1-PAPOLA 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.
DICER1-PAPOLA 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.
DICER1-PAPOLA 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.
DICER1-PAPOLA 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.
DICER1-PAPOLA seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
DICER1-PAPOLA seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
DICER1-PAPOLA seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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
HgeneDICER1

GO:0030422

production of siRNA involved in RNA interference

15973356|17452327|23661684

HgeneDICER1

GO:0031054

pre-miRNA processing

15973356|16357216|18178619|23661684|25549615

HgeneDICER1

GO:0035087

siRNA loading onto RISC involved in RNA interference

15973356

HgeneDICER1

GO:0035196

production of miRNAs involved in gene silencing by miRNA

15973356|23661684

HgeneDICER1

GO:0035280

miRNA loading onto RISC involved in gene silencing by miRNA

18178619

HgeneDICER1

GO:0038061

NIK/NF-kappaB signaling

26435691

HgeneDICER1

GO:0090502

RNA phosphodiester bond hydrolysis, endonucleolytic

21753850|25549615

TgenePAPOLA

GO:0006378

mRNA polyadenylation

7590244|19224921

TgenePAPOLA

GO:0031440

regulation of mRNA 3'-end processing

19224921


check buttonFusion gene breakpoints across DICER1 (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 PAPOLA (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
ChimerDB4LUSCTCGA-77-8148-01ADICER1chr14

95569683

-PAPOLAchr14

97008580

+


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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)
ENST00000556045DICER1chr1495569683-ENST00000216277PAPOLAchr1497008580+4211102710732149358

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
ENST00000556045ENST00000216277DICER1chr1495569683-PAPOLAchr1497008580+0.001005830.9989942

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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

>22793_22793_1_DICER1-PAPOLA_DICER1_chr14_95569683_ENST00000556045_PAPOLA_chr14_97008580_ENST00000216277_length(amino acids)=358AA_BP=
MEWVGLVESKIRILVGSLEKNEFITLAHVNPQSFPAPKENPDKEEFRTMWVIGLVFKKTENSENLSVDLTYDIQSFTDTVYRQAINSKMF
EVDMKIAAMHVKRKQLHQLLPNHVLQKKKKHSTEGVKLTALNDSSLDLSMDSDNSMSVPSPTSATKTSPLNSSGSSQGRNSPAPAVTAAS
VTNIQATEVSVPQVNSSESSGGTSSESIPQTATQPAISPPPKPTVSRVVSSTRLVNPPPRSSGNAATSGNAATKIPTPIVGVKRTSSPHK

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

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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/chr14:95569683/chr14:97008580)
- 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
DICER1

Q9UPY3

.
FUNCTION: Double-stranded RNA (dsRNA) endoribonuclease playing a central role in short dsRNA-mediated post-transcriptional gene silencing. Cleaves naturally occurring long dsRNAs and short hairpin pre-microRNAs (miRNA) into fragments of twenty-one to twenty-three nucleotides with 3' overhang of two nucleotides, producing respectively short interfering RNAs (siRNA) and mature microRNAs. SiRNAs and miRNAs serve as guide to direct the RNA-induced silencing complex (RISC) to complementary RNAs to degrade them or prevent their translation. Gene silencing mediated by siRNAs, also called RNA interference, controls the elimination of transcripts from mobile and repetitive DNA elements of the genome but also the degradation of exogenous RNA of viral origin for instance. The miRNA pathway on the other side is a mean to specifically regulate the expression of target genes. {ECO:0000269|PubMed:15242644, ECO:0000269|PubMed:15973356, ECO:0000269|PubMed:16142218, ECO:0000269|PubMed:16271387, ECO:0000269|PubMed:16289642, ECO:0000269|PubMed:16357216, ECO:0000269|PubMed:16424907, ECO:0000269|PubMed:17452327, ECO:0000269|PubMed:18178619}.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.

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
HgeneDICER1chr14:95569683chr14:97008580ENST00000343455-2127433_6021350.01923.0DomainHelicase C-terminal
HgeneDICER1chr14:95569683chr14:97008580ENST00000343455-212751_2271350.01923.0DomainHelicase ATP-binding
HgeneDICER1chr14:95569683chr14:97008580ENST00000343455-2127630_7221350.01923.0DomainDicer dsRNA-binding fold
HgeneDICER1chr14:95569683chr14:97008580ENST00000343455-2127891_10421350.01923.0DomainPAZ
HgeneDICER1chr14:95569683chr14:97008580ENST00000393063-2228433_6021350.01923.0DomainHelicase C-terminal
HgeneDICER1chr14:95569683chr14:97008580ENST00000393063-222851_2271350.01923.0DomainHelicase ATP-binding
HgeneDICER1chr14:95569683chr14:97008580ENST00000393063-2228630_7221350.01923.0DomainDicer dsRNA-binding fold
HgeneDICER1chr14:95569683chr14:97008580ENST00000393063-2228891_10421350.01923.0DomainPAZ
HgeneDICER1chr14:95569683chr14:97008580ENST00000526495-2329433_6021350.01923.0DomainHelicase C-terminal
HgeneDICER1chr14:95569683chr14:97008580ENST00000526495-232951_2271350.01923.0DomainHelicase ATP-binding
HgeneDICER1chr14:95569683chr14:97008580ENST00000526495-2329630_7221350.01923.0DomainDicer dsRNA-binding fold
HgeneDICER1chr14:95569683chr14:97008580ENST00000526495-2329891_10421350.01923.0DomainPAZ
HgeneDICER1chr14:95569683chr14:97008580ENST00000527414-2127433_6021350.01923.0DomainHelicase C-terminal
HgeneDICER1chr14:95569683chr14:97008580ENST00000527414-212751_2271350.01923.0DomainHelicase ATP-binding
HgeneDICER1chr14:95569683chr14:97008580ENST00000527414-2127630_7221350.01923.0DomainDicer dsRNA-binding fold
HgeneDICER1chr14:95569683chr14:97008580ENST00000527414-2127891_10421350.01923.0DomainPAZ
HgeneDICER1chr14:95569683chr14:97008580ENST00000541352-2025433_6021350.01830.0DomainHelicase C-terminal
HgeneDICER1chr14:95569683chr14:97008580ENST00000541352-202551_2271350.01830.0DomainHelicase ATP-binding
HgeneDICER1chr14:95569683chr14:97008580ENST00000541352-2025630_7221350.01830.0DomainDicer dsRNA-binding fold
HgeneDICER1chr14:95569683chr14:97008580ENST00000541352-2025891_10421350.01830.0DomainPAZ
HgeneDICER1chr14:95569683chr14:97008580ENST00000343455-2127175_1781350.01923.0MotifNote=DECH box
HgeneDICER1chr14:95569683chr14:97008580ENST00000393063-2228175_1781350.01923.0MotifNote=DECH box
HgeneDICER1chr14:95569683chr14:97008580ENST00000526495-2329175_1781350.01923.0MotifNote=DECH box
HgeneDICER1chr14:95569683chr14:97008580ENST00000527414-2127175_1781350.01923.0MotifNote=DECH box
HgeneDICER1chr14:95569683chr14:97008580ENST00000541352-2025175_1781350.01830.0MotifNote=DECH box
HgeneDICER1chr14:95569683chr14:97008580ENST00000343455-212764_711350.01923.0Nucleotide bindingATP
HgeneDICER1chr14:95569683chr14:97008580ENST00000393063-222864_711350.01923.0Nucleotide bindingATP
HgeneDICER1chr14:95569683chr14:97008580ENST00000526495-232964_711350.01923.0Nucleotide bindingATP
HgeneDICER1chr14:95569683chr14:97008580ENST00000527414-212764_711350.01923.0Nucleotide bindingATP
HgeneDICER1chr14:95569683chr14:97008580ENST00000541352-202564_711350.01830.0Nucleotide bindingATP
TgenePAPOLAchr14:95569683chr14:97008580ENST000002162771122504_507371.6666666666667746.0Compositional biasNote=Poly-Lys
TgenePAPOLAchr14:95569683chr14:97008580ENST0000055732009504_5070286.0Compositional biasNote=Poly-Lys
TgenePAPOLAchr14:95569683chr14:97008580ENST000005573200953_570286.0Compositional biasNote=Poly-Glu
TgenePAPOLAchr14:95569683chr14:97008580ENST0000055747107504_5070239.0Compositional biasNote=Poly-Lys
TgenePAPOLAchr14:95569683chr14:97008580ENST000005574710753_570239.0Compositional biasNote=Poly-Glu
TgenePAPOLAchr14:95569683chr14:97008580ENST000002162771122490_507371.6666666666667746.0MotifNuclear localization signal 1
TgenePAPOLAchr14:95569683chr14:97008580ENST000002162771122650_665371.6666666666667746.0MotifNuclear localization signal 2
TgenePAPOLAchr14:95569683chr14:97008580ENST0000055732009490_5070286.0MotifNuclear localization signal 1
TgenePAPOLAchr14:95569683chr14:97008580ENST0000055732009650_6650286.0MotifNuclear localization signal 2
TgenePAPOLAchr14:95569683chr14:97008580ENST0000055747107490_5070239.0MotifNuclear localization signal 1
TgenePAPOLAchr14:95569683chr14:97008580ENST0000055747107650_6650239.0MotifNuclear localization signal 2
TgenePAPOLAchr14:95569683chr14:97008580ENST0000055732009100_1020286.0Nucleotide bindingATP
TgenePAPOLAchr14:95569683chr14:97008580ENST0000055732009113_1150286.0Nucleotide bindingATP
TgenePAPOLAchr14:95569683chr14:97008580ENST0000055732009246_2470286.0Nucleotide bindingATP
TgenePAPOLAchr14:95569683chr14:97008580ENST0000055747107100_1020239.0Nucleotide bindingATP
TgenePAPOLAchr14:95569683chr14:97008580ENST0000055747107113_1150239.0Nucleotide bindingATP
TgenePAPOLAchr14:95569683chr14:97008580ENST0000055747107246_2470239.0Nucleotide bindingATP
TgenePAPOLAchr14:95569683chr14:97008580ENST000002162771122508_643371.6666666666667746.0RegionNote=Ser/Thr-rich
TgenePAPOLAchr14:95569683chr14:97008580ENST0000055732009508_6430286.0RegionNote=Ser/Thr-rich
TgenePAPOLAchr14:95569683chr14:97008580ENST0000055747107508_6430239.0RegionNote=Ser/Thr-rich

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDICER1chr14:95569683chr14:97008580ENST00000343455-21271276_14031350.01923.0DomainRNase III 1
HgeneDICER1chr14:95569683chr14:97008580ENST00000343455-21271666_18241350.01923.0DomainRNase III 2
HgeneDICER1chr14:95569683chr14:97008580ENST00000343455-21271849_19141350.01923.0DomainDRBM
HgeneDICER1chr14:95569683chr14:97008580ENST00000393063-22281276_14031350.01923.0DomainRNase III 1
HgeneDICER1chr14:95569683chr14:97008580ENST00000393063-22281666_18241350.01923.0DomainRNase III 2
HgeneDICER1chr14:95569683chr14:97008580ENST00000393063-22281849_19141350.01923.0DomainDRBM
HgeneDICER1chr14:95569683chr14:97008580ENST00000526495-23291276_14031350.01923.0DomainRNase III 1
HgeneDICER1chr14:95569683chr14:97008580ENST00000526495-23291666_18241350.01923.0DomainRNase III 2
HgeneDICER1chr14:95569683chr14:97008580ENST00000526495-23291849_19141350.01923.0DomainDRBM
HgeneDICER1chr14:95569683chr14:97008580ENST00000527414-21271276_14031350.01923.0DomainRNase III 1
HgeneDICER1chr14:95569683chr14:97008580ENST00000527414-21271666_18241350.01923.0DomainRNase III 2
HgeneDICER1chr14:95569683chr14:97008580ENST00000527414-21271849_19141350.01923.0DomainDRBM
HgeneDICER1chr14:95569683chr14:97008580ENST00000541352-20251276_14031350.01830.0DomainRNase III 1
HgeneDICER1chr14:95569683chr14:97008580ENST00000541352-20251666_18241350.01830.0DomainRNase III 2
HgeneDICER1chr14:95569683chr14:97008580ENST00000541352-20251849_19141350.01830.0DomainDRBM
TgenePAPOLAchr14:95569683chr14:97008580ENST00000216277112253_57371.6666666666667746.0Compositional biasNote=Poly-Glu
TgenePAPOLAchr14:95569683chr14:97008580ENST000002162771122100_102371.6666666666667746.0Nucleotide bindingATP
TgenePAPOLAchr14:95569683chr14:97008580ENST000002162771122113_115371.6666666666667746.0Nucleotide bindingATP
TgenePAPOLAchr14:95569683chr14:97008580ENST000002162771122246_247371.6666666666667746.0Nucleotide bindingATP


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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
DICER1
PAPOLA


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 DICER1-PAPOLA


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 DICER1-PAPOLA


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