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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:BCLAF1-LGALSL (FusionGDB2 ID:HG9774TG29094)

Fusion Gene Summary for BCLAF1-LGALSL

check button Fusion gene summary
Fusion gene informationFusion gene name: BCLAF1-LGALSL
Fusion gene ID: hg9774tg29094
HgeneTgene
Gene symbol

BCLAF1

LGALSL

Gene ID

9774

29094

Gene nameBCL2 associated transcription factor 1galectin like
SynonymsBTF|bK211L9.1GRP|HSPC159
Cytomap('BCLAF1')('LGALSL')

6q23.3

2p14

Type of geneprotein-codingprotein-coding
Descriptionbcl-2-associated transcription factor 1BCLAF1 and THRAP3 family member 1galectin-related proteingalectin-like proteinlectin galactoside-binding-like proteinlectin, galactoside binding like
Modification date2020031520200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000353331, ENST00000527536, 
ENST00000527759, ENST00000530767, 
ENST00000531224, ENST00000031135, 
ENST00000392348, ENST00000529917, 
Fusion gene scores* DoF score10 X 7 X 4=2802 X 2 X 2=8
# samples 102
** MAII scorelog2(10/280*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: BCLAF1 [Title/Abstract] AND LGALSL [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBCLAF1(136610851)-LGALSL(64682478), # 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
HgeneBCLAF1

GO:0043065

positive regulation of apoptotic process

10330179

HgeneBCLAF1

GO:0045892

negative regulation of transcription, DNA-templated

10330179



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
ChimerDB4Non-CancerERR315425BCLAF1chr6

136610851

-LGALSLchr2

64682478

+


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Fusion Gene ORF analysis for BCLAF1-LGALSL

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
5UTR-3CDSENST00000353331ENST00000238875BCLAF1chr6

136610851

-LGALSLchr2

64682478

+
5UTR-3CDSENST00000353331ENST00000409537BCLAF1chr6

136610851

-LGALSLchr2

64682478

+
5UTR-3CDSENST00000527536ENST00000238875BCLAF1chr6

136610851

-LGALSLchr2

64682478

+
5UTR-3CDSENST00000527536ENST00000409537BCLAF1chr6

136610851

-LGALSLchr2

64682478

+
5UTR-3CDSENST00000527759ENST00000238875BCLAF1chr6

136610851

-LGALSLchr2

64682478

+
5UTR-3CDSENST00000527759ENST00000409537BCLAF1chr6

136610851

-LGALSLchr2

64682478

+
5UTR-3CDSENST00000530767ENST00000238875BCLAF1chr6

136610851

-LGALSLchr2

64682478

+
5UTR-3CDSENST00000530767ENST00000409537BCLAF1chr6

136610851

-LGALSLchr2

64682478

+
5UTR-3CDSENST00000531224ENST00000238875BCLAF1chr6

136610851

-LGALSLchr2

64682478

+
5UTR-3CDSENST00000531224ENST00000409537BCLAF1chr6

136610851

-LGALSLchr2

64682478

+
intron-3CDSENST00000031135ENST00000238875BCLAF1chr6

136610851

-LGALSLchr2

64682478

+
intron-3CDSENST00000031135ENST00000409537BCLAF1chr6

136610851

-LGALSLchr2

64682478

+
intron-3CDSENST00000392348ENST00000238875BCLAF1chr6

136610851

-LGALSLchr2

64682478

+
intron-3CDSENST00000392348ENST00000409537BCLAF1chr6

136610851

-LGALSLchr2

64682478

+
intron-3CDSENST00000529917ENST00000238875BCLAF1chr6

136610851

-LGALSLchr2

64682478

+
intron-3CDSENST00000529917ENST00000409537BCLAF1chr6

136610851

-LGALSLchr2

64682478

+

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 BCLAF1-LGALSL


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)
BCLAF1chr6136610850-LGALSLchr264682477+0.98772370.012276269
BCLAF1chr6136610850-LGALSLchr264682477+0.98772370.012276269


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 BCLAF1-LGALSL


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/:136610851/:64682478)
- 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 BCLAF1-LGALSL


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 BCLAF1-LGALSL


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 BCLAF1-LGALSL


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 BCLAF1-LGALSL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBCLAF1C0149925Small cell carcinoma of lung1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human