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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:SLC35A2-PQBP1 (FusionGDB2 ID:HG7355TG10084)

Fusion Gene Summary for SLC35A2-PQBP1

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC35A2-PQBP1
Fusion gene ID: hg7355tg10084
HgeneTgene
Gene symbol

SLC35A2

PQBP1

Gene ID

7355

10084

Gene namesolute carrier family 35 member A2polyglutamine binding protein 1
SynonymsCDG2M|CDGX|UDP-Gal-Tr|UGALT|UGAT|UGT|UGT1|UGT2|UGTLMRX2|MRX55|MRXS3|MRXS8|NPW38|RENS1|SHS
Cytomap('SLC35A2')('PQBP1')

Xp11.23

Xp11.23

Type of geneprotein-codingprotein-coding
DescriptionUDP-galactose translocatorsolute carrier family 35 (UDP-galactose transporter), member 2solute carrier family 35 (UDP-galactose transporter), member A2polyglutamine-binding protein 138 kDa nuclear protein containing a WW domainpolyglutamine tract-binding protein 1
Modification date2020032220200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000247138, ENST00000376512, 
ENST00000376515, ENST00000376521, 
ENST00000376529, ENST00000413561, 
ENST00000445167, ENST00000452555, 
Fusion gene scores* DoF score2 X 2 X 2=86 X 7 X 3=126
# samples 27
** MAII scorelog2(2/8*10)=1.32192809488736log2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SLC35A2 [Title/Abstract] AND PQBP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSLC35A2(48760739)-PQBP1(48759786), # 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
TgenePQBP1

GO:0002218

activation of innate immune response

26046437

TgenePQBP1

GO:0002230

positive regulation of defense response to virus by host

26046437

TgenePQBP1

GO:0032481

positive regulation of type I interferon production

26046437

TgenePQBP1

GO:0051607

defense response to virus

26046437

TgenePQBP1

GO:0071360

cellular response to exogenous dsRNA

26046437



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
ChiTaRS5.0N/AAI669555SLC35A2chrX

48760739

-PQBP1chrX

48759786

-


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Fusion Gene ORF analysis for SLC35A2-PQBP1

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
intron-3UTRENST00000247138ENST00000473764SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-3UTRENST00000376512ENST00000473764SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-3UTRENST00000376515ENST00000473764SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-3UTRENST00000376521ENST00000473764SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-3UTRENST00000376529ENST00000473764SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-3UTRENST00000413561ENST00000473764SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-3UTRENST00000445167ENST00000473764SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-3UTRENST00000452555ENST00000473764SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000247138ENST00000218224SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000247138ENST00000247140SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000247138ENST00000376548SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000247138ENST00000376563SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000247138ENST00000376566SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000247138ENST00000396763SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000247138ENST00000447146SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376512ENST00000218224SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376512ENST00000247140SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376512ENST00000376548SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376512ENST00000376563SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376512ENST00000376566SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376512ENST00000396763SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376512ENST00000447146SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376515ENST00000218224SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376515ENST00000247140SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376515ENST00000376548SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376515ENST00000376563SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376515ENST00000376566SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376515ENST00000396763SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376515ENST00000447146SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376521ENST00000218224SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376521ENST00000247140SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376521ENST00000376548SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376521ENST00000376563SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376521ENST00000376566SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376521ENST00000396763SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376521ENST00000447146SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376529ENST00000218224SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376529ENST00000247140SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376529ENST00000376548SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376529ENST00000376563SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376529ENST00000376566SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376529ENST00000396763SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000376529ENST00000447146SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000413561ENST00000218224SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000413561ENST00000247140SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000413561ENST00000376548SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000413561ENST00000376563SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000413561ENST00000376566SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000413561ENST00000396763SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000413561ENST00000447146SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000445167ENST00000218224SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000445167ENST00000247140SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000445167ENST00000376548SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000445167ENST00000376563SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000445167ENST00000376566SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000445167ENST00000396763SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000445167ENST00000447146SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000452555ENST00000218224SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000452555ENST00000247140SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000452555ENST00000376548SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000452555ENST00000376563SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000452555ENST00000376566SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000452555ENST00000396763SLC35A2chrX

48760739

-PQBP1chrX

48759786

-
intron-intronENST00000452555ENST00000447146SLC35A2chrX

48760739

-PQBP1chrX

48759786

-

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 SLC35A2-PQBP1


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)


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Fusion Protein Features for SLC35A2-PQBP1


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/:48760739/:48759786)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 SLC35A2-PQBP1


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 SLC35A2-PQBP1


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 SLC35A2-PQBP1


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 SLC35A2-PQBP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLC35A2C3806688Solute carrier family 35 member A2 congenital disorder of glycosylation3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneSLC35A2C3714756Intellectual Disability2GENOMICS_ENGLAND
HgeneSLC35A2C0014544Epilepsy1GENOMICS_ENGLAND
TgeneC0796135Renpenning syndrome 115CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0025958Microcephaly3CTD_human
TgeneC1956147Microlissencephaly3CTD_human
TgeneC3853041Severe Congenital Microcephaly3CTD_human
TgeneC0018273Growth Disorders2CTD_human
TgeneC1136249Mental Retardation, X-Linked2CTD_human
TgeneC0009917Contracture1GENOMICS_ENGLAND
TgeneC0018817Atrial Septal Defects1CTD_human
TgeneC0025990Micrognathism1GENOMICS_ENGLAND
TgeneC0026838Muscle Spasticity1GENOMICS_ENGLAND
TgeneC0031192Persistent Ostium Primum1CTD_human
TgeneC0037773Spastic Paraplegia, Hereditary1CTD_human
TgeneC0240543Bulbous nose1GENOMICS_ENGLAND
TgeneC0344724Ostium secundum atrial septal defect1CTD_human
TgeneC0431368Partial agenesis of corpus callosum1GENOMICS_ENGLAND
TgeneC0751602Hereditary Autosomal Dominant Spastic Paraplegia1CTD_human
TgeneC0751603Autosomal Recessive Hereditary Spastic Paraplegia1CTD_human
TgeneC0751604Hereditary X-Linked Recessive Spastic Paraplegia1CTD_human
TgeneC0751605X-Linked, Spastic Paraplegia, Hereditary1CTD_human
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneC4553743Spasticity, CTCAE1GENOMICS_ENGLAND
TgeneC4721916HMSN Type V1CTD_human