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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: 16810

FusionGeneSummary for HSD17B4_COPS3

check button Fusion gene summary
Fusion gene informationFusion gene name: HSD17B4_COPS3
Fusion gene ID: 16810
HgeneTgene
Gene symbol

HSD17B4

COPS3

Gene ID

3295

8533

Gene namehydroxysteroid 17-beta dehydrogenase 4COP9 signalosome subunit 3
SynonymsDBP|MFE-2|MPF-2|PRLTS1|SDR8C1CSN3|SGN3
Cytomap

5q23.1

17p11.2

Type of geneprotein-codingprotein-coding
Descriptionperoxisomal 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 dehydrataseCOP9 signalosome complex subunit 3COP9 complex subunit 3COP9 constitutive photomorphogenic homolog subunit 3JAB1-containing signalosome subunit 3signalosome subunit 3
Modification date2018052220180523
UniProtAcc

P51659

Q9UNS2

Ensembl transtripts involved in fusion geneENST00000256216, ENST00000515320, 
ENST00000510025, ENST00000504811, 
ENST00000414835, ENST00000513628, 
ENST00000509514, ENST00000522415, 
ENST00000539941, ENST00000268717, 
ENST00000439936, 
Fusion gene scores* DoF score2 X 3 X 3=185 X 4 X 5=100
# samples 35
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HSD17B4 [Title/Abstract] AND COPS3 [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
HgeneHSD17B4

GO:0006635

fatty acid beta-oxidation

10400999

HgeneHSD17B4

GO:0008209

androgen metabolic process

7487879

HgeneHSD17B4

GO:0008210

estrogen metabolic process

7487879

HgeneHSD17B4

GO:0036111

very long-chain fatty-acyl-CoA metabolic process

9482850

HgeneHSD17B4

GO:0036112

medium-chain fatty-acyl-CoA metabolic process

9089413

TgeneCOPS3

GO:0000338

protein deneddylation

19141280


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
ChiTaRS3.1BF033554HSD17B4chr5

118865606

+COPS3chr17

17150317

-
* 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
5CDS-3UTRENST00000256216ENST00000539941HSD17B4chr5

118865606

+COPS3chr17

17150317

-
5CDS-3UTRENST00000256216ENST00000268717HSD17B4chr5

118865606

+COPS3chr17

17150317

-
5CDS-3UTRENST00000256216ENST00000439936HSD17B4chr5

118865606

+COPS3chr17

17150317

-
5CDS-3UTRENST00000515320ENST00000539941HSD17B4chr5

118865606

+COPS3chr17

17150317

-
5CDS-3UTRENST00000515320ENST00000268717HSD17B4chr5

118865606

+COPS3chr17

17150317

-
5CDS-3UTRENST00000515320ENST00000439936HSD17B4chr5

118865606

+COPS3chr17

17150317

-
5CDS-3UTRENST00000510025ENST00000539941HSD17B4chr5

118865606

+COPS3chr17

17150317

-
5CDS-3UTRENST00000510025ENST00000268717HSD17B4chr5

118865606

+COPS3chr17

17150317

-
5CDS-3UTRENST00000510025ENST00000439936HSD17B4chr5

118865606

+COPS3chr17

17150317

-
5CDS-3UTRENST00000504811ENST00000539941HSD17B4chr5

118865606

+COPS3chr17

17150317

-
5CDS-3UTRENST00000504811ENST00000268717HSD17B4chr5

118865606

+COPS3chr17

17150317

-
5CDS-3UTRENST00000504811ENST00000439936HSD17B4chr5

118865606

+COPS3chr17

17150317

-
5CDS-3UTRENST00000414835ENST00000539941HSD17B4chr5

118865606

+COPS3chr17

17150317

-
5CDS-3UTRENST00000414835ENST00000268717HSD17B4chr5

118865606

+COPS3chr17

17150317

-
5CDS-3UTRENST00000414835ENST00000439936HSD17B4chr5

118865606

+COPS3chr17

17150317

-
5CDS-3UTRENST00000513628ENST00000539941HSD17B4chr5

118865606

+COPS3chr17

17150317

-
5CDS-3UTRENST00000513628ENST00000268717HSD17B4chr5

118865606

+COPS3chr17

17150317

-
5CDS-3UTRENST00000513628ENST00000439936HSD17B4chr5

118865606

+COPS3chr17

17150317

-
5CDS-3UTRENST00000509514ENST00000539941HSD17B4chr5

118865606

+COPS3chr17

17150317

-
5CDS-3UTRENST00000509514ENST00000268717HSD17B4chr5

118865606

+COPS3chr17

17150317

-
5CDS-3UTRENST00000509514ENST00000439936HSD17B4chr5

118865606

+COPS3chr17

17150317

-
3UTR-3UTRENST00000522415ENST00000539941HSD17B4chr5

118865606

+COPS3chr17

17150317

-
3UTR-3UTRENST00000522415ENST00000268717HSD17B4chr5

118865606

+COPS3chr17

17150317

-
3UTR-3UTRENST00000522415ENST00000439936HSD17B4chr5

118865606

+COPS3chr17

17150317

-

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FusionProtFeatures for HSD17B4_COPS3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HSD17B4

P51659

COPS3

Q9UNS2

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}. Component of the COP9 signalosome complex (CSN), acomplex involved in various cellular and developmental processes.The CSN complex is an essential regulator of the ubiquitin (Ubl)conjugation pathway by mediating the deneddylation of the cullinsubunits of SCF-type E3 ligase complexes, leading to decrease theUbl ligase activity of SCF-type complexes such as SCF, CSA orDDB2. The complex is also involved in phosphorylation of p53/TP53,c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly viaits association with CK2 and PKD kinases. CSN-dependentphosphorylation of TP53 and JUN promotes and protects degradationby the Ubl system, respectively. {ECO:0000269|PubMed:11285227,ECO:0000269|PubMed:11337588, ECO:0000269|PubMed:12628923,ECO:0000269|PubMed:12732143, ECO:0000269|PubMed:9535219}.

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 HSD17B4_COPS3


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 HSD17B4_COPS3


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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RelatedDrugs for HSD17B4_COPS3


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 HSD17B4_COPS3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHSD17B4C0342870Bifunctional peroxisomal enzyme deficiency4CTD_human;ORPHANET;UNIPROT
HgeneHSD17B4C0282528Peroxisomal Disorders2CTD_human
HgeneHSD17B4C0685838Gonadal dysgenesis XX type deafness2CTD_human;ORPHANET;UNIPROT
HgeneHSD17B4C0037769West Syndrome1CTD_human
HgeneHSD17B4C0043459Zellweger Syndrome1CTD_human