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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:UNC13D-FBF1 (FusionGDB2 ID:96819)

Fusion Gene Summary for UNC13D-FBF1

check button Fusion gene summary
Fusion gene informationFusion gene name: UNC13D-FBF1
Fusion gene ID: 96819
HgeneTgene
Gene symbol

UNC13D

FBF1

Gene ID

201294

85302

Gene nameunc-13 homolog DFas binding factor 1
SynonymsFHL3|HLH3|HPLH3|Munc13-4Alb|FBF-1
Cytomap

17q25.1

17q25.1

Type of geneprotein-codingprotein-coding
Descriptionprotein unc-13 homolog Dfas-binding factor 1Fas (TNFRSF6) binding factor 1Fas binding protein 1albatrossprotein albatross
Modification date2020032820200320
UniProtAcc.

Q8TES7

Ensembl transtripts involved in fusion geneENST00000207549, ENST00000412096, 
ENST00000587504, 		ENST00000586631, 
ENST00000588478, ENST00000319129, 
ENST00000389570, ENST00000586717, 
Fusion gene scores* DoF score6 X 9 X 7=3782 X 4 X 3=24
# samples 84
** MAII scorelog2(8/378*10)=-2.24031432933371
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: UNC13D [Title/Abstract] AND FBF1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointUNC13D(73838514)-FBF1(73919719), # samples:2
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

check buttonFusion gene breakpoints across UNC13D (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across FBF1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4LUSCTCGA-94-8491-01AUNC13Dchr17

73838514

-FBF1chr17

73919719

-
ChimerDB4LUSCTCGA-94-8491UNC13Dchr17

73838514

-FBF1chr17

73919719

-
ChimerDB4LUSCTCGA-94-8491UNC13Dchr17

73838514

-FBF1chr17

73919722

-
ChimerDB4UCSTCGA-N5-A4RJ-01AUNC13Dchr17

73826109

-FBF1chr17

73914350

-
ChimerDB4UCSTCGA-N5-A4RJUNC13Dchr17

73824038

-FBF1chr17

73914350

-


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Fusion Gene ORF analysis for UNC13D-FBF1

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-intronENST00000207549ENST00000586631UNC13Dchr17

73838514

-FBF1chr17

73919719

-
5CDS-intronENST00000207549ENST00000586631UNC13Dchr17

73838514

-FBF1chr17

73919722

-
5CDS-intronENST00000207549ENST00000586631UNC13Dchr17

73826109

-FBF1chr17

73914350

-
5CDS-intronENST00000207549ENST00000588478UNC13Dchr17

73838514

-FBF1chr17

73919719

-
5CDS-intronENST00000207549ENST00000588478UNC13Dchr17

73838514

-FBF1chr17

73919722

-
5CDS-intronENST00000207549ENST00000588478UNC13Dchr17

73826109

-FBF1chr17

73914350

-
5CDS-intronENST00000412096ENST00000586631UNC13Dchr17

73838514

-FBF1chr17

73919719

-
5CDS-intronENST00000412096ENST00000586631UNC13Dchr17

73838514

-FBF1chr17

73919722

-
5CDS-intronENST00000412096ENST00000586631UNC13Dchr17

73826109

-FBF1chr17

73914350

-
5CDS-intronENST00000412096ENST00000588478UNC13Dchr17

73838514

-FBF1chr17

73919719

-
5CDS-intronENST00000412096ENST00000588478UNC13Dchr17

73838514

-FBF1chr17

73919722

-
5CDS-intronENST00000412096ENST00000588478UNC13Dchr17

73826109

-FBF1chr17

73914350

-
5UTR-3CDSENST00000587504ENST00000319129UNC13Dchr17

73838514

-FBF1chr17

73919719

-
5UTR-3CDSENST00000587504ENST00000319129UNC13Dchr17

73838514

-FBF1chr17

73919722

-
5UTR-3CDSENST00000587504ENST00000389570UNC13Dchr17

73838514

-FBF1chr17

73919719

-
5UTR-3CDSENST00000587504ENST00000389570UNC13Dchr17

73838514

-FBF1chr17

73919722

-
5UTR-3CDSENST00000587504ENST00000586717UNC13Dchr17

73838514

-FBF1chr17

73919719

-
5UTR-3CDSENST00000587504ENST00000586717UNC13Dchr17

73838514

-FBF1chr17

73919722

-
5UTR-intronENST00000587504ENST00000586631UNC13Dchr17

73838514

-FBF1chr17

73919719

-
5UTR-intronENST00000587504ENST00000586631UNC13Dchr17

73838514

-FBF1chr17

73919722

-
5UTR-intronENST00000587504ENST00000588478UNC13Dchr17

73838514

-FBF1chr17

73919719

-
5UTR-intronENST00000587504ENST00000588478UNC13Dchr17

73838514

-FBF1chr17

73919722

-
In-frameENST00000207549ENST00000319129UNC13Dchr17

73838514

-FBF1chr17

73919719

-
In-frameENST00000207549ENST00000319129UNC13Dchr17

73838514

-FBF1chr17

73919722

-
In-frameENST00000207549ENST00000319129UNC13Dchr17

73826109

-FBF1chr17

73914350

-
In-frameENST00000207549ENST00000389570UNC13Dchr17

73838514

-FBF1chr17

73919719

-
In-frameENST00000207549ENST00000389570UNC13Dchr17

73838514

-FBF1chr17

73919722

-
In-frameENST00000207549ENST00000389570UNC13Dchr17

73826109

-FBF1chr17

73914350

-
In-frameENST00000207549ENST00000586717UNC13Dchr17

73838514

-FBF1chr17

73919719

-
In-frameENST00000207549ENST00000586717UNC13Dchr17

73838514

-FBF1chr17

73919722

-
In-frameENST00000207549ENST00000586717UNC13Dchr17

73826109

-FBF1chr17

73914350

-
In-frameENST00000412096ENST00000319129UNC13Dchr17

73838514

-FBF1chr17

73919719

-
In-frameENST00000412096ENST00000319129UNC13Dchr17

73838514

-FBF1chr17

73919722

-
In-frameENST00000412096ENST00000319129UNC13Dchr17

73826109

-FBF1chr17

73914350

-
In-frameENST00000412096ENST00000389570UNC13Dchr17

73838514

-FBF1chr17

73919719

-
In-frameENST00000412096ENST00000389570UNC13Dchr17

73838514

-FBF1chr17

73919722

-
In-frameENST00000412096ENST00000389570UNC13Dchr17

73826109

-FBF1chr17

73914350

-
In-frameENST00000412096ENST00000586717UNC13Dchr17

73838514

-FBF1chr17

73919719

-
In-frameENST00000412096ENST00000586717UNC13Dchr17

73838514

-FBF1chr17

73919722

-
In-frameENST00000412096ENST00000586717UNC13Dchr17

73826109

-FBF1chr17

73914350

-
intron-3CDSENST00000207549ENST00000319129UNC13Dchr17

73824038

-FBF1chr17

73914350

-
intron-3CDSENST00000207549ENST00000389570UNC13Dchr17

73824038

-FBF1chr17

73914350

-
intron-3CDSENST00000207549ENST00000586717UNC13Dchr17

73824038

-FBF1chr17

73914350

-
intron-3CDSENST00000412096ENST00000319129UNC13Dchr17

73824038

-FBF1chr17

73914350

-
intron-3CDSENST00000412096ENST00000389570UNC13Dchr17

73824038

-FBF1chr17

73914350

-
intron-3CDSENST00000412096ENST00000586717UNC13Dchr17

73824038

-FBF1chr17

73914350

-
intron-3CDSENST00000587504ENST00000319129UNC13Dchr17

73826109

-FBF1chr17

73914350

-
intron-3CDSENST00000587504ENST00000319129UNC13Dchr17

73824038

-FBF1chr17

73914350

-
intron-3CDSENST00000587504ENST00000389570UNC13Dchr17

73826109

-FBF1chr17

73914350

-
intron-3CDSENST00000587504ENST00000389570UNC13Dchr17

73824038

-FBF1chr17

73914350

-
intron-3CDSENST00000587504ENST00000586717UNC13Dchr17

73826109

-FBF1chr17

73914350

-
intron-3CDSENST00000587504ENST00000586717UNC13Dchr17

73824038

-FBF1chr17

73914350

-
intron-intronENST00000207549ENST00000586631UNC13Dchr17

73824038

-FBF1chr17

73914350

-
intron-intronENST00000207549ENST00000588478UNC13Dchr17

73824038

-FBF1chr17

73914350

-
intron-intronENST00000412096ENST00000586631UNC13Dchr17

73824038

-FBF1chr17

73914350

-
intron-intronENST00000412096ENST00000588478UNC13Dchr17

73824038

-FBF1chr17

73914350

-
intron-intronENST00000587504ENST00000586631UNC13Dchr17

73826109

-FBF1chr17

73914350

-
intron-intronENST00000587504ENST00000586631UNC13Dchr17

73824038

-FBF1chr17

73914350

-
intron-intronENST00000587504ENST00000588478UNC13Dchr17

73826109

-FBF1chr17

73914350

-
intron-intronENST00000587504ENST00000588478UNC13Dchr17

73824038

-FBF1chr17

73914350

-

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 UNC13D-FBF1


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.
genomic feature

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 UNC13D-FBF1


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/chr17:73838514/chr17:73919719)
- 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
.FBF1

Q8TES7

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: Keratin-binding protein required for epithelial cell polarization. Involved in apical junction complex (AJC) assembly via its interaction with PARD3. Required for ciliogenesis. {ECO:0000269|PubMed:18838552, ECO:0000269|PubMed:23348840}.

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
HgeneUNC13Dchr17:73826109chr17:73914350ENST00000207549-3032557_6779841091.0DomainMHD1
HgeneUNC13Dchr17:73826109chr17:73914350ENST00000207549-3032788_8959841091.0DomainMHD2
HgeneUNC13Dchr17:73826109chr17:73914350ENST00000207549-303292_2399841091.0DomainC2 1
HgeneUNC13Dchr17:73826109chr17:73914350ENST00000412096-3033557_6779841143.0DomainMHD1
HgeneUNC13Dchr17:73826109chr17:73914350ENST00000412096-3033788_8959841143.0DomainMHD2
HgeneUNC13Dchr17:73826109chr17:73914350ENST00000412096-303392_2399841143.0DomainC2 1
TgeneFBF1chr17:73826109chr17:73914350ENST000003191291829773_8706971134.0Coiled coilOntology_term=ECO:0000255
TgeneFBF1chr17:73826109chr17:73914350ENST000005867171829773_8706981134.0Coiled coilOntology_term=ECO:0000255
TgeneFBF1chr17:73838514chr17:73919719ENST000003191291129577_7273081134.0Coiled coilOntology_term=ECO:0000255
TgeneFBF1chr17:73838514chr17:73919719ENST000003191291129773_8703081134.0Coiled coilOntology_term=ECO:0000255
TgeneFBF1chr17:73838514chr17:73919719ENST000005867171129577_7273081134.0Coiled coilOntology_term=ECO:0000255
TgeneFBF1chr17:73838514chr17:73919719ENST000005867171129773_8703081134.0Coiled coilOntology_term=ECO:0000255
TgeneFBF1chr17:73838514chr17:73919722ENST000003191291129577_7273081134.0Coiled coilOntology_term=ECO:0000255
TgeneFBF1chr17:73838514chr17:73919722ENST000003191291129773_8703081134.0Coiled coilOntology_term=ECO:0000255
TgeneFBF1chr17:73838514chr17:73919722ENST000005867171129577_7273081134.0Coiled coilOntology_term=ECO:0000255
TgeneFBF1chr17:73838514chr17:73919722ENST000005867171129773_8703081134.0Coiled coilOntology_term=ECO:0000255
TgeneFBF1chr17:73826109chr17:73914350ENST000003191291829999_10456971134.0Compositional biasNote=Gln-rich
TgeneFBF1chr17:73826109chr17:73914350ENST000005867171829999_10456981134.0Compositional biasNote=Gln-rich
TgeneFBF1chr17:73838514chr17:73919719ENST000003191291129999_10453081134.0Compositional biasNote=Gln-rich
TgeneFBF1chr17:73838514chr17:73919719ENST000005867171129999_10453081134.0Compositional biasNote=Gln-rich
TgeneFBF1chr17:73838514chr17:73919722ENST000003191291129999_10453081134.0Compositional biasNote=Gln-rich
TgeneFBF1chr17:73838514chr17:73919722ENST000005867171129999_10453081134.0Compositional biasNote=Gln-rich

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneUNC13Dchr17:73826109chr17:73914350ENST00000207549-3032910_10359841091.0DomainC2 2
HgeneUNC13Dchr17:73826109chr17:73914350ENST00000412096-3033910_10359841143.0DomainC2 2
HgeneUNC13Dchr17:73838514chr17:73919719ENST00000207549-632557_6771891091.0DomainMHD1
HgeneUNC13Dchr17:73838514chr17:73919719ENST00000207549-632788_8951891091.0DomainMHD2
HgeneUNC13Dchr17:73838514chr17:73919719ENST00000207549-632910_10351891091.0DomainC2 2
HgeneUNC13Dchr17:73838514chr17:73919719ENST00000207549-63292_2391891091.0DomainC2 1
HgeneUNC13Dchr17:73838514chr17:73919719ENST00000412096-633557_6771891143.0DomainMHD1
HgeneUNC13Dchr17:73838514chr17:73919719ENST00000412096-633788_8951891143.0DomainMHD2
HgeneUNC13Dchr17:73838514chr17:73919719ENST00000412096-633910_10351891143.0DomainC2 2
HgeneUNC13Dchr17:73838514chr17:73919719ENST00000412096-63392_2391891143.0DomainC2 1
HgeneUNC13Dchr17:73838514chr17:73919722ENST00000207549-632557_6771891091.0DomainMHD1
HgeneUNC13Dchr17:73838514chr17:73919722ENST00000207549-632788_8951891091.0DomainMHD2
HgeneUNC13Dchr17:73838514chr17:73919722ENST00000207549-632910_10351891091.0DomainC2 2
HgeneUNC13Dchr17:73838514chr17:73919722ENST00000207549-63292_2391891091.0DomainC2 1
HgeneUNC13Dchr17:73838514chr17:73919722ENST00000412096-633557_6771891143.0DomainMHD1
HgeneUNC13Dchr17:73838514chr17:73919722ENST00000412096-633788_8951891143.0DomainMHD2
HgeneUNC13Dchr17:73838514chr17:73919722ENST00000412096-633910_10351891143.0DomainC2 2
HgeneUNC13Dchr17:73838514chr17:73919722ENST00000412096-63392_2391891143.0DomainC2 1
TgeneFBF1chr17:73826109chr17:73914350ENST000003191291829577_7276971134.0Coiled coilOntology_term=ECO:0000255
TgeneFBF1chr17:73826109chr17:73914350ENST000005867171829577_7276981134.0Coiled coilOntology_term=ECO:0000255


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Fusion Gene Sequence for UNC13D-FBF1


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 UNC13D-FBF1


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
HgeneUNC13Dchr17:73826109chr17:73914350ENST00000207549-3032240_543984.66666666666661091.0RAB27A
HgeneUNC13Dchr17:73826109chr17:73914350ENST00000412096-3033240_543984.66666666666661143.0RAB27A


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneUNC13Dchr17:73838514chr17:73919719ENST00000207549-632240_543189.666666666666661091.0RAB27A
HgeneUNC13Dchr17:73838514chr17:73919719ENST00000412096-633240_543189.666666666666661143.0RAB27A
HgeneUNC13Dchr17:73838514chr17:73919722ENST00000207549-632240_543189.666666666666661091.0RAB27A
HgeneUNC13Dchr17:73838514chr17:73919722ENST00000412096-633240_543189.666666666666661143.0RAB27A


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 UNC13D-FBF1


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 UNC13D-FBF1


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