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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 9974

FusionGeneSummary for DICER1_HSD17B4

check button Fusion gene summary
Fusion gene informationFusion gene name: DICER1_HSD17B4
Fusion gene ID: 9974
HgeneTgene
Gene symbol

DICER1

HSD17B4

Gene ID

23405

3295

Gene namedicer 1, ribonuclease IIIhydroxysteroid 17-beta dehydrogenase 4
SynonymsDCR1|Dicer|Dicer1e|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 date2018052320180522
UniProtAcc

Q9UPY3

P51659

Ensembl transtripts involved in fusion geneENST00000343455, ENST00000526495, 
ENST00000393063, ENST00000527416, 
ENST00000527414, ENST00000556045, 
ENST00000541352, 
ENST00000256216, 
ENST00000515320, ENST00000510025, 
ENST00000504811, ENST00000414835, 
ENST00000513628, ENST00000509514, 
ENST00000522415, 
Fusion gene scores* DoF score8 X 5 X 6=2404 X 2 X 3=24
# samples 94
** MAII scorelog2(9/240*10)=-1.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

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

Functional or gene categories assigned by FusionGDB annotation
* 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: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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDUCECTCGA-SL-A6JA-01ADICER1chr14

95623567

-HSD17B4chr5

118872118

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-3CDSENST00000343455ENST00000515320DICER1chr14

95623567

-HSD17B4chr5

118872118

+
5UTR-3CDSENST00000343455ENST00000510025DICER1chr14

95623567

-HSD17B4chr5

118872118

+
5UTR-3CDSENST00000343455ENST00000504811DICER1chr14

95623567

-HSD17B4chr5

118872118

+
5UTR-3CDSENST00000343455ENST00000414835DICER1chr14

95623567

-HSD17B4chr5

118872118

+
5UTR-3CDSENST00000343455ENST00000513628DICER1chr14

95623567

-HSD17B4chr5

118872118

+
5UTR-3CDSENST00000343455ENST00000509514DICER1chr14

95623567

-HSD17B4chr5

118872118

+
5UTR-3UTRENST00000343455ENST00000522415DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000526495ENST00000256216DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000526495ENST00000515320DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000526495ENST00000510025DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000526495ENST00000504811DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000526495ENST00000414835DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000526495ENST00000513628DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000526495ENST00000509514DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3UTRENST00000526495ENST00000522415DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000393063ENST00000256216DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000393063ENST00000515320DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000393063ENST00000510025DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000393063ENST00000504811DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000393063ENST00000414835DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000393063ENST00000513628DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000393063ENST00000509514DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3UTRENST00000393063ENST00000522415DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527416ENST00000256216DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527416ENST00000515320DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527416ENST00000510025DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527416ENST00000504811DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527416ENST00000414835DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527416ENST00000513628DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527416ENST00000509514DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3UTRENST00000527416ENST00000522415DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527414ENST00000256216DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527414ENST00000515320DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527414ENST00000510025DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527414ENST00000504811DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527414ENST00000414835DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527414ENST00000513628DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000527414ENST00000509514DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3UTRENST00000527414ENST00000522415DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000556045ENST00000256216DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000556045ENST00000515320DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000556045ENST00000510025DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000556045ENST00000504811DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000556045ENST00000414835DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000556045ENST00000513628DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000556045ENST00000509514DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3UTRENST00000556045ENST00000522415DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000541352ENST00000256216DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000541352ENST00000515320DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000541352ENST00000510025DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000541352ENST00000504811DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000541352ENST00000414835DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000541352ENST00000513628DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3CDSENST00000541352ENST00000509514DICER1chr14

95623567

-HSD17B4chr5

118872118

+
intron-3UTRENST00000541352ENST00000522415DICER1chr14

95623567

-HSD17B4chr5

118872118

+

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FusionProtFeatures for DICER1_HSD17B4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DICER1

Q9UPY3

HSD17B4

P51659

Double-stranded RNA (dsRNA) endoribonuclease playing acentral role in short dsRNA-mediated post-transcriptional genesilencing. Cleaves naturally occurring long dsRNAs and shorthairpin pre-microRNAs (miRNA) into fragments of twenty-one totwenty-three nucleotides with 3' overhang of two nucleotides,producing respectively short interfering RNAs (siRNA) and maturemicroRNAs. SiRNAs and miRNAs serve as guide to direct the RNA-induced silencing complex (RISC) to complementary RNAs to degradethem or prevent their translation. Gene silencing mediated bysiRNAs, also called RNA interference, controls the elimination oftranscripts from mobile and repetitive DNA elements of the genomebut also the degradation of exogenous RNA of viral origin forinstance. The miRNA pathway on the other side is a mean tospecifically 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, ECO:0000269|PubMed:19219043}. Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. {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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FusionGeneSequence for DICER1_HSD17B4


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
DICER1AGO1, AGO3, AGO4, PIWIL4, PIWIL3, PIWIL2, AGO2, USP49, DHX58, EIF2AK2, PIWIL1, SIRT7, DHX9, CUL3, ALB, NOS2, GEMIN4, CALCOCO2, TARBP2, MMS19, NPM1, HDAC11, DDX20, SMN1, DICER1, PRKAB2, ALOX5, CUL4A, FBXL14, TRIM71, MTFR2, GNL2, GTPBP4, MTFR1, MYSM1, NOC3L, POP1, PRKRA, STAU2, AURKA, CCDC8, ZMAT3, RPS2, MEMO1, PNKD, SFRP4, ILF2, AAMP, FOXD4L6, PRG2, USP7, KALRN, NTRK1, CEP19, HNRNPD, RAP1B, SORT1, MAD2L2, SYNCRIP, TIMM13, SGTB, ACTR5, USF1, CRY2, TRMT2A, ADAMTS4, CPA6, TRIM41, STRBP, KIAA1683, RPL15, CFAP20, INO80B, TRIM25HSD17B4UBA5, UBC, NDRG1, MYC, GRB2, SNCA, ACAA1, SCP2, CAT, GRHPR, SSBP1, FIS1, GNB2L1, VAMP2, PEX5, PEX14, ADRB2, CASP9, BAK1, CDK7, MAPK8, HECW2, STAU1, CUL7, CCDC8, DECR1, EEF2, IDH1, NTRK1, SCARNA22, RPGRIP1, FOS, HNRNPD, HNRNPU, SORT1, RACGAP1, NF2, CDC73, PPM1A, DUSP22, DUSP4, IKZF1, DLD, DLST, PDHA1, SDHA


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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RelatedDrugs for DICER1_HSD17B4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for DICER1_HSD17B4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDICER1C0036341Schizophrenia2PSYGENET
HgeneDICER1C0014175Endometriosis1CTD_human
HgeneDICER1C0028960Oligospermia1CTD_human
HgeneDICER1C0302859Euthyroid Goiter1ORPHANET;UNIPROT
HgeneDICER1C1266144Pleuropulmonary blastoma1CTD_human;HPO;ORPHANET;UNIPROT
TgeneHSD17B4C0342870Bifunctional peroxisomal enzyme deficiency4CTD_human;ORPHANET;UNIPROT
TgeneHSD17B4C0282528Peroxisomal Disorders2CTD_human
TgeneHSD17B4C0685838Gonadal dysgenesis XX type deafness2CTD_human;ORPHANET;UNIPROT
TgeneHSD17B4C0037769West Syndrome1CTD_human
TgeneHSD17B4C0043459Zellweger Syndrome1CTD_human