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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:DICER1-HSD17B4 (FusionGDB2 ID:22790)

Fusion Gene Summary for DICER1-HSD17B4

check button Fusion gene summary
Fusion gene informationFusion gene name: DICER1-HSD17B4
Fusion gene ID: 22790
HgeneTgene
Gene symbol

DICER1

HSD17B4

Gene ID

23405

3295

Gene namedicer 1, ribonuclease IIIhydroxysteroid 17-beta dehydrogenase 4
SynonymsDCR1|Dicer|Dicer1e|GLOW|HERNA|K12H4.8-LIKE|MNG1|RMSE2DBP|MFE-2|MPF-2|PRLTS1|SDR8C1
Cytomap

14q32.13

5q23.1

Type of geneprotein-codingprotein-coding
Descriptionendoribonuclease DicerDicer1, Dcr-1 homologdicer 1, double-stranded RNA-specific endoribonucleasedicer 1, ribonuclease type IIIhelicase MOIhelicase with RNAse motifperoxisomal multifunctional enzyme type 217-beta-HSD 417-beta-HSD IV17-beta-hydroxysteroid dehydrogenase 417beta-estradiol dehydrogenase type IV3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydrataseD-3-hydroxyacyl-CoA dehydratase
Modification date2020032920200327
UniProtAcc

Q9UPY3

P51659

Ensembl transtripts involved in fusion geneENST00000343455, ENST00000393063, 
ENST00000526495, ENST00000527414, 
ENST00000527416, ENST00000541352, 
ENST00000556045, 		ENST00000256216, 
ENST00000414835, ENST00000504811, 
ENST00000509514, ENST00000510025, 
ENST00000513628, ENST00000515320, 
ENST00000522415, 
Fusion gene scores* DoF score13 X 8 X 10=104016 X 15 X 12=2880
# samples 1519
** MAII scorelog2(15/1040*10)=-2.79354912253257
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(19/2880*10)=-3.92199748799873
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DICER1 [Title/Abstract] AND HSD17B4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDICER1(95623567)-HSD17B4(118872118), # samples:1
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
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

TgeneHSD17B4

GO:0006635

fatty acid beta-oxidation

10400999

TgeneHSD17B4

GO:0008209

androgen metabolic process

7487879

TgeneHSD17B4

GO:0008210

estrogen metabolic process

7487879

TgeneHSD17B4

GO:0036111

very long-chain fatty-acyl-CoA metabolic process

9482850

TgeneHSD17B4

GO:0036112

medium-chain fatty-acyl-CoA metabolic process

9089413


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.

check buttonFusion gene breakpoints across HSD17B4 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4UCECTCGA-SL-A6JA-01ADICER1chr14

95623567

-HSD17B4chr5

118872118

+


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Fusion Gene ORF analysis for DICER1-HSD17B4

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
5UTR-3CDSENST00000343455ENST00000256216DICER1chr14

95623567

-HSD17B4chr5

118872118

+
5UTR-3CDSENST00000343455ENST00000414835DICER1chr14

95623567

-HSD17B4chr5

118872118

+
5UTR-3CDSENST00000343455ENST00000504811DICER1chr14

95623567

-HSD17B4chr5

118872118

+
5UTR-3CDSENST00000343455ENST00000509514DICER1chr14

95623567

-HSD17B4chr5

118872118

+
5UTR-3CDSENST00000343455ENST00000510025DICER1chr14

95623567

-HSD17B4chr5

118872118

+
5UTR-3CDSENST00000343455ENST00000513628DICER1chr14

95623567

-HSD17B4chr5

118872118

+
5UTR-3CDSENST00000343455ENST00000515320DICER1chr14

95623567

-HSD17B4chr5

118872118

+
5UTR-3UTRENST00000343455ENST00000522415DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000393063ENST00000256216DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000393063ENST00000414835DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000393063ENST00000504811DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000393063ENST00000509514DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000393063ENST00000510025DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000393063ENST00000513628DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000393063ENST00000515320DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000526495ENST00000256216DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000526495ENST00000414835DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000526495ENST00000504811DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000526495ENST00000509514DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000526495ENST00000510025DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000526495ENST00000513628DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000526495ENST00000515320DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527414ENST00000256216DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527414ENST00000414835DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527414ENST00000504811DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527414ENST00000509514DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527414ENST00000510025DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527414ENST00000513628DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527414ENST00000515320DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527416ENST00000256216DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527416ENST00000414835DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527416ENST00000504811DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527416ENST00000509514DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527416ENST00000510025DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527416ENST00000513628DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527416ENST00000515320DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000541352ENST00000256216DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000541352ENST00000414835DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000541352ENST00000504811DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000541352ENST00000509514DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000541352ENST00000510025DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000541352ENST00000513628DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000541352ENST00000515320DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000556045ENST00000256216DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000556045ENST00000414835DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000556045ENST00000504811DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000556045ENST00000509514DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000556045ENST00000510025DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000556045ENST00000513628DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000556045ENST00000515320DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3UTRENST00000393063ENST00000522415DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3UTRENST00000526495ENST00000522415DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3UTRENST00000527414ENST00000522415DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3UTRENST00000527416ENST00000522415DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3UTRENST00000541352ENST00000522415DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3UTRENST00000556045ENST00000522415DICER1chr14

95623567

-HSD17B4chr5

118872118

+

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)

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

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Fusion Genomic Features for DICER1-HSD17B4


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)
DICER1chr1495623566-HSD17B4chr5118872117+4.50E-050.99995506
DICER1chr1495623566-HSD17B4chr5118872117+4.50E-050.99995506

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.

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.
genomic feature of top 1%

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Fusion Protein Features for DICER1-HSD17B4


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/:95623567/:118872118)
- 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

HSD17B4

P51659

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: Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from straight-chain, 2-methyl-branched-chain fatty acids bile acid intermediates. With EHHADH, catalyzes the hydration of trans-2-enoyl-CoA and the dehydrogenation of 3-hydroxyacyl-CoA, but with opposite chiral specificity (PubMed:10671535). {ECO:0000269|PubMed:10671535, ECO:0000269|PubMed:15060085, ECO:0000269|PubMed:8902629, ECO:0000269|PubMed:9089413}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for DICER1-HSD17B4


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.

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Fusion Gene PPI Analysis for DICER1-HSD17B4


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 DICER1-HSD17B4


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 DICER1-HSD17B4


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