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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:BCORL1-UTP14A (FusionGDB2 ID:HG63035TG10813)

Fusion Gene Summary for BCORL1-UTP14A

check button Fusion gene summary
Fusion gene informationFusion gene name: BCORL1-UTP14A
Fusion gene ID: hg63035tg10813
HgeneTgene
Gene symbol

BCORL1

UTP14A

Gene ID

63035

10813

Gene nameBCL6 corepressor like 1UTP14A small subunit processome component
SynonymsBCoR-L1|CXorf10|SHUVERNYCO16|SDCCAG16|Utp14|dJ537K23.3
Cytomap('BCORL1')('UTP14A')

Xq26.1

Xq26.1

Type of geneprotein-codingprotein-coding
DescriptionBCL-6 corepressor-like protein 1BCoR-like protein 1U3 small nucleolar RNA-associated protein 14 homolog AUTP14, U3 small nucleolar ribonucleoprotein, homolog AUTP14A small subunit (SSU) processome componentantigen NY-CO-16serologically defined colon cancer antigen 16
Modification date2020031320200313
UniProtAcc

Q5H9F3

.
Ensembl transtripts involved in fusion geneENST00000218147, ENST00000303743, 
ENST00000359304, ENST00000540052, 
ENST00000607874, 
Fusion gene scores* DoF score3 X 2 X 3=183 X 2 X 3=18
# samples 33
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BCORL1 [Title/Abstract] AND UTP14A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBCORL1(129173257)-UTP14A(129041343), # samples:3
Anticipated loss of major functional domain due to fusion event.BCORL1-UTP14A seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
BCORL1-UTP14A seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
BCORL1-UTP14A seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
BCORL1-UTP14A seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
BCORL1-UTP14A seems lost the major protein functional domain in Tgene partner, which is a essential 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


check button Fusion gene information
* 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
ChimerDB4PCPGTCGA-WB-A820-01ABCORL1chrX

129173257

-UTP14AchrX

129041343

+
ChimerDB4PCPGTCGA-WB-A820-01ABCORL1chrX

129173257

+UTP14AchrX

129041343

+


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Fusion Gene ORF analysis for BCORL1-UTP14A

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-5UTRENST00000218147ENST00000371051BCORL1chrX

129173257

+UTP14AchrX

129041343

+
5CDS-5UTRENST00000303743ENST00000371051BCORL1chrX

129173257

+UTP14AchrX

129041343

+
5CDS-5UTRENST00000359304ENST00000371051BCORL1chrX

129173257

+UTP14AchrX

129041343

+
5CDS-5UTRENST00000540052ENST00000371051BCORL1chrX

129173257

+UTP14AchrX

129041343

+
5CDS-intronENST00000218147ENST00000371042BCORL1chrX

129173257

+UTP14AchrX

129041343

+
5CDS-intronENST00000218147ENST00000498179BCORL1chrX

129173257

+UTP14AchrX

129041343

+
5CDS-intronENST00000303743ENST00000371042BCORL1chrX

129173257

+UTP14AchrX

129041343

+
5CDS-intronENST00000303743ENST00000498179BCORL1chrX

129173257

+UTP14AchrX

129041343

+
5CDS-intronENST00000359304ENST00000371042BCORL1chrX

129173257

+UTP14AchrX

129041343

+
5CDS-intronENST00000359304ENST00000498179BCORL1chrX

129173257

+UTP14AchrX

129041343

+
5CDS-intronENST00000540052ENST00000371042BCORL1chrX

129173257

+UTP14AchrX

129041343

+
5CDS-intronENST00000540052ENST00000498179BCORL1chrX

129173257

+UTP14AchrX

129041343

+
Frame-shiftENST00000218147ENST00000394422BCORL1chrX

129173257

+UTP14AchrX

129041343

+
Frame-shiftENST00000218147ENST00000425117BCORL1chrX

129173257

+UTP14AchrX

129041343

+
Frame-shiftENST00000303743ENST00000394422BCORL1chrX

129173257

+UTP14AchrX

129041343

+
Frame-shiftENST00000303743ENST00000425117BCORL1chrX

129173257

+UTP14AchrX

129041343

+
Frame-shiftENST00000359304ENST00000394422BCORL1chrX

129173257

+UTP14AchrX

129041343

+
Frame-shiftENST00000359304ENST00000425117BCORL1chrX

129173257

+UTP14AchrX

129041343

+
Frame-shiftENST00000540052ENST00000394422BCORL1chrX

129173257

+UTP14AchrX

129041343

+
Frame-shiftENST00000540052ENST00000425117BCORL1chrX

129173257

+UTP14AchrX

129041343

+
intron-3CDSENST00000607874ENST00000394422BCORL1chrX

129173257

+UTP14AchrX

129041343

+
intron-3CDSENST00000607874ENST00000425117BCORL1chrX

129173257

+UTP14AchrX

129041343

+
intron-5UTRENST00000607874ENST00000371051BCORL1chrX

129173257

+UTP14AchrX

129041343

+
intron-intronENST00000607874ENST00000371042BCORL1chrX

129173257

+UTP14AchrX

129041343

+
intron-intronENST00000607874ENST00000498179BCORL1chrX

129173257

+UTP14AchrX

129041343

+

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 BCORL1-UTP14A


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)
BCORL1chrX129173257+UTP14AchrX129041342+2.08E-081
BCORL1chrX129173257+UTP14AchrX129041342+2.08E-081


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.
genomic feature of top 1%

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Fusion Protein Features for BCORL1-UTP14A


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/:129173257/:129041343)
- 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
BCORL1

Q5H9F3

.
FUNCTION: Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor. {ECO:0000269|PubMed:17379597}.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 BCORL1-UTP14A


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 BCORL1-UTP14A


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 BCORL1-UTP14A


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 BCORL1-UTP14A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBCORL1C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneBCORL1C0027708Nephroblastoma1CTD_human
HgeneBCORL1C0233514Abnormal behavior1GENOMICS_ENGLAND
HgeneBCORL1C2930471Bilateral Wilms Tumor1CTD_human