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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:FIG4-HS3ST5 (FusionGDB2 ID:30407)

Fusion Gene Summary for FIG4-HS3ST5

check button Fusion gene summary
Fusion gene informationFusion gene name: FIG4-HS3ST5
Fusion gene ID: 30407
HgeneTgene
Gene symbol

FIG4

HS3ST5

Gene ID

9896

222537

Gene nameFIG4 phosphoinositide 5-phosphataseheparan sulfate-glucosamine 3-sulfotransferase 5
SynonymsALS11|BTOP|CMT4J|KIAA0274|SAC3|YVS|dJ249I4.13-OST-5|3OST5|HS3OST5|NBLA04021
Cytomap

6q21

6q21-q22.1

Type of geneprotein-codingprotein-coding
Descriptionpolyphosphoinositide phosphataseFIG4 homolog, SAC domain containing lipid phosphataseFIG4 homolog, SAC1 domain containing lipid phosphataseFIG4 homolog, SAC1 lipid phosphatase domain containingSAC domain-containing protein 3Sac domain-containing inosheparan sulfate glucosamine 3-O-sulfotransferase 5h3-OST-5heparan sulfate (glucosamine) 3-O-sulfotransferase 5heparan sulfate 3-O-sulfotransferase 5heparan sulfate 3-OST-5heparan sulfate D-glucosaminyl 3-O-sulfotransferase 5
Modification date2020032820200313
UniProtAcc

Q92562

Q8IZT8

Ensembl transtripts involved in fusion geneENST00000230124, ENST00000441478, 
ENST00000368941, 
ENST00000312719, 
ENST00000411826, ENST00000441954, 
Fusion gene scores* DoF score8 X 8 X 5=3203 X 3 X 3=27
# samples 93
** MAII scorelog2(9/320*10)=-1.83007499855769
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FIG4 [Title/Abstract] AND HS3ST5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFIG4(110086364)-HS3ST5(114549942), # 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
TgeneHS3ST5

GO:0006477

protein sulfation

12138164

TgeneHS3ST5

GO:0015015

heparan sulfate proteoglycan biosynthetic process, enzymatic modification

12138164

TgeneHS3ST5

GO:0046596

regulation of viral entry into host cell

12138164

TgeneHS3ST5

GO:0050819

negative regulation of coagulation

12138164


check buttonFusion gene breakpoints across FIG4 (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 HS3ST5 (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
ChimerDB4LIHCTCGA-2Y-A9HA-01AFIG4chr6

110086364

-HS3ST5chr6

114549942

-


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Fusion Gene ORF analysis for FIG4-HS3ST5

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-5UTRENST00000230124ENST00000312719FIG4chr6

110086364

-HS3ST5chr6

114549942

-
5CDS-5UTRENST00000441478ENST00000312719FIG4chr6

110086364

-HS3ST5chr6

114549942

-
5CDS-intronENST00000230124ENST00000411826FIG4chr6

110086364

-HS3ST5chr6

114549942

-
5CDS-intronENST00000230124ENST00000441954FIG4chr6

110086364

-HS3ST5chr6

114549942

-
5CDS-intronENST00000441478ENST00000411826FIG4chr6

110086364

-HS3ST5chr6

114549942

-
5CDS-intronENST00000441478ENST00000441954FIG4chr6

110086364

-HS3ST5chr6

114549942

-
intron-5UTRENST00000368941ENST00000312719FIG4chr6

110086364

-HS3ST5chr6

114549942

-
intron-intronENST00000368941ENST00000411826FIG4chr6

110086364

-HS3ST5chr6

114549942

-
intron-intronENST00000368941ENST00000441954FIG4chr6

110086364

-HS3ST5chr6

114549942

-

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 FIG4-HS3ST5


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)

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 FIG4-HS3ST5


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/:110086364/:114549942)
- 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
FIG4

Q92562

HS3ST5

Q8IZT8

FUNCTION: The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). In vitro, hydrolyzes all three D5-phosphorylated polyphosphoinositide substrates in the order PtdIns(4,5)P2 > PtdIns(3,5)P2 > PtdIns(3,4,5)P3. Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes. {ECO:0000269|PubMed:17556371}.FUNCTION: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan. Catalyzes the rate limiting step in the biosynthesis of heparan sulfate (HSact). This modification is a crucial step in the biosynthesis of anticoagulant heparan sulfate as it completes the structure of the antithrombin pentasaccharide binding site. Also generates GlcUA-GlcNS or IdoUA-GlcNS and IdoUA2S-GlcNH2. The substrate-specific O-sulfation generates an enzyme-modified heparan sulfate which acts as a binding receptor to Herpes simplex virus-1 (HSV-1) and permits its entry. {ECO:0000269|PubMed:12138164}.

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 FIG4-HS3ST5


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 FIG4-HS3ST5


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 FIG4-HS3ST5


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 FIG4-HS3ST5


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