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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:SLIT3-HSD17B4 (FusionGDB2 ID:83088)

Fusion Gene Summary for SLIT3-HSD17B4

check button Fusion gene summary
Fusion gene informationFusion gene name: SLIT3-HSD17B4
Fusion gene ID: 83088
HgeneTgene
Gene symbol

SLIT3

HSD17B4

Gene ID

6586

3295

Gene nameslit guidance ligand 3hydroxysteroid 17-beta dehydrogenase 4
SynonymsMEGF5|SLIL2|SLIT1|Slit-3|slit2DBP|MFE-2|MPF-2|PRLTS1|SDR8C1
Cytomap

5q34-q35.1

5q23.1

Type of geneprotein-codingprotein-coding
Descriptionslit homolog 3 proteinmultiple EGF-like domains protein 5multiple epidermal growth factor-like domains protein 5slit homolog 3peroxisomal 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 date2020031320200327
UniProtAcc.

P51659

Ensembl transtripts involved in fusion geneENST00000519560, ENST00000332966, 
ENST00000404867, ENST00000521130, 
ENST00000256216, ENST00000515320, 
ENST00000510025, ENST00000504811, 
ENST00000414835, ENST00000513628, 
ENST00000509514, ENST00000522415, 
Fusion gene scores* DoF score9 X 6 X 5=27016 X 15 X 12=2880
# samples 819
** MAII scorelog2(8/270*10)=-1.75488750216347
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: SLIT3 [Title/Abstract] AND HSD17B4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSLIT3(168310270)-HSD17B4(118792010), # samples:3
Anticipated loss of major functional domain due to fusion event.SLIT3-HSD17B4 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism 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
HgeneSLIT3

GO:0007411

axon guidance

11748139

HgeneSLIT3

GO:0021834

chemorepulsion involved in embryonic olfactory bulb interneuron precursor migration

11748139

HgeneSLIT3

GO:0048846

axon extension involved in axon guidance

16840550

HgeneSLIT3

GO:0050919

negative chemotaxis

11748139

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 SLIT3 (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
ChimerDB4BRCATCGA-EW-A1P0-01ASLIT3chr5

168310270

-HSD17B4chr5

118792010

+
ChimerDB4BRCATCGA-EW-A1P0-01ASLIT3chr5

168310270

-HSD17B4chr5

118792010

+
ChimerDB4BRCATCGA-EW-A1P0-01ASLIT3chr5

168310270

-HSD17B4chr5

118792010

+


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Fusion Gene ORF analysis for SLIT3-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
Frame-shiftENST00000519560ENST00000256216SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-intronENST00000519560ENST00000515320SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-5UTRENST00000519560ENST00000510025SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-5UTRENST00000519560ENST00000504811SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-5UTRENST00000519560ENST00000414835SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-intronENST00000519560ENST00000513628SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-intronENST00000519560ENST00000509514SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-intronENST00000519560ENST00000522415SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
Frame-shiftENST00000332966ENST00000256216SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-intronENST00000332966ENST00000515320SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-5UTRENST00000332966ENST00000510025SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-5UTRENST00000332966ENST00000504811SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-5UTRENST00000332966ENST00000414835SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-intronENST00000332966ENST00000513628SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-intronENST00000332966ENST00000509514SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-intronENST00000332966ENST00000522415SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
Frame-shiftENST00000404867ENST00000256216SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-intronENST00000404867ENST00000515320SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-5UTRENST00000404867ENST00000510025SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-5UTRENST00000404867ENST00000504811SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-5UTRENST00000404867ENST00000414835SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-intronENST00000404867ENST00000513628SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-intronENST00000404867ENST00000509514SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
5CDS-intronENST00000404867ENST00000522415SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
intron-3CDSENST00000521130ENST00000256216SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
intron-intronENST00000521130ENST00000515320SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
intron-5UTRENST00000521130ENST00000510025SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
intron-5UTRENST00000521130ENST00000504811SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
intron-5UTRENST00000521130ENST00000414835SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
intron-intronENST00000521130ENST00000513628SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
intron-intronENST00000521130ENST00000509514SLIT3chr5

168310270

-HSD17B4chr5

118792010

+
intron-intronENST00000521130ENST00000522415SLIT3chr5

168310270

-HSD17B4chr5

118792010

+

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 SLIT3-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)
SLIT3chr5168310269-HSD17B4chr5118792009+3.87E-050.9999614
SLIT3chr5168310269-HSD17B4chr5118792009+3.87E-050.9999614

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.

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Fusion Protein Features for SLIT3-HSD17B4


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

P51659

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: 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 SLIT3-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 SLIT3-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 SLIT3-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
TgeneHSD17B4P51659DB00157NADHSmall moleculeApproved|Nutraceutical
TgeneHSD17B4P51659DB00157NADHSmall moleculeApproved|Nutraceutical
TgeneHSD17B4P51659DB00157NADHSmall moleculeApproved|Nutraceutical

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Related Diseases for SLIT3-HSD17B4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLIT3C0004238Atrial Fibrillation2CTD_human
HgeneSLIT3C0235480Paroxysmal atrial fibrillation2CTD_human
HgeneSLIT3C2585653Persistent atrial fibrillation2CTD_human
HgeneSLIT3C3468561familial atrial fibrillation2CTD_human
HgeneSLIT3C0019284Diaphragmatic Hernia1CTD_human
HgeneSLIT3C0036341Schizophrenia1PSYGENET
HgeneSLIT3C0041696Unipolar Depression1PSYGENET
HgeneSLIT3C1269683Major Depressive Disorder1PSYGENET
TgeneHSD17B4C0342870Bifunctional peroxisomal enzyme deficiency12CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneHSD17B4C0685838Gonadal dysgenesis XX type deafness10CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneHSD17B4C0282525Adrenoleukodystrophy, Neonatal2CTD_human
TgeneHSD17B4C0282526Hyperpipecolic Acidemia2CTD_human
TgeneHSD17B4C0282528Peroxisomal Disorders2CTD_human
TgeneHSD17B4C0751708Peroxisomal Dysfunction, General2CTD_human
TgeneHSD17B4C0751709Peroxisomal Dysfunction, Multiple2CTD_human
TgeneHSD17B4C0751710Peroxisomal Dysfunction, Single2CTD_human
TgeneHSD17B4C4551721PERRAULT SYNDROME 12GENOMICS_ENGLAND;UNIPROT
TgeneHSD17B4C0037769West Syndrome1CTD_human
TgeneHSD17B4C0043459Zellweger Syndrome1CTD_human
TgeneHSD17B4C0393698Cryptogenic Infantile Spasms1CTD_human
TgeneHSD17B4C0393699Symptomatic Infantile Spasms1CTD_human
TgeneHSD17B4C0546878Nodding spasm1CTD_human
TgeneHSD17B4C0553558Jackknife Seizures1CTD_human
TgeneHSD17B4C0684276Hypsarrhythmia1CTD_human
TgeneHSD17B4C0751594Zellweger-Like Syndrome1CTD_human
TgeneHSD17B4C1384666hearing impairment1GENOMICS_ENGLAND
TgeneHSD17B4C1527306spasmus nutans1CTD_human
TgeneHSD17B4C1527366Salaam Seizures1CTD_human
TgeneHSD17B4C3658299Zellweger Spectrum1CTD_human