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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:BRK1-FANCD2 (FusionGDB2 ID:HG55845TG2177)

Fusion Gene Summary for BRK1-FANCD2

check button Fusion gene summary
Fusion gene informationFusion gene name: BRK1-FANCD2
Fusion gene ID: hg55845tg2177
HgeneTgene
Gene symbol

BRK1

FANCD2

Gene ID

55845

2177

Gene nameBRICK1 subunit of SCAR/WAVE actin nucleating complexFA complementation group D2
SynonymsC3orf10|HSPC300|MDS027|hHBrk1FA-D2|FA4|FACD|FAD|FAD2|FANCD
Cytomap('BRK1')('FANCD2')

3p25.3

3p25.3

Type of geneprotein-codingprotein-coding
Descriptionprotein BRICK1BRICK1, SCAR/WAVE actin nucleating complex subunithaematopoietic stem/progenitor cell protein 300Fanconi anemia group D2 proteinFanconi anemia complementation group D2
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000256463, ENST00000530758, 
Fusion gene scores* DoF score11 X 10 X 5=5509 X 13 X 7=819
# samples 1211
** MAII scorelog2(12/550*10)=-2.1963972128035
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/819*10)=-2.89635992811635
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BRK1 [Title/Abstract] AND FANCD2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBRK1(10157503)-FANCD2(10138010), # samples:3
Anticipated loss of major functional domain due to fusion event.BRK1-FANCD2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
BRK1-FANCD2 seems lost the major protein functional domain in Tgene partner, which is a CGC 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
HgeneBRK1

GO:0016601

Rac protein signal transduction

21107423

HgeneBRK1

GO:2000601

positive regulation of Arp2/3 complex-mediated actin nucleation

21107423

TgeneFANCD2

GO:0010332

response to gamma radiation

12874027



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
ChimerDB4ACCTCGA-OR-A5K5-01ABRK1chr3

10157503

+FANCD2chr3

10134969

+
ChimerDB4ACCTCGA-OR-A5K5-01ABRK1chr3

10157503

+FANCD2chr3

10136884

+
ChimerDB4ACCTCGA-OR-A5K5-01ABRK1chr3

10157503

-FANCD2chr3

10138010

+
ChimerDB4ACCTCGA-OR-A5K5-01ABRK1chr3

10157503

+FANCD2chr3

10138010

+
ChimerDB4ACCTCGA-OR-A5K5BRK1chr3

10157503

+FANCD2chr3

10136883

+
ChimerDB4ACCTCGA-OR-A5K5BRK1chr3

10157503

+FANCD2chr3

10138009

+


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Fusion Gene ORF analysis for BRK1-FANCD2

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-3UTRENST00000256463ENST00000383806BRK1chr3

10157503

+FANCD2chr3

10134969

+
5CDS-3UTRENST00000256463ENST00000383806BRK1chr3

10157503

+FANCD2chr3

10136884

+
5CDS-3UTRENST00000256463ENST00000383806BRK1chr3

10157503

+FANCD2chr3

10138010

+
5CDS-3UTRENST00000256463ENST00000383806BRK1chr3

10157503

+FANCD2chr3

10136883

+
5CDS-3UTRENST00000256463ENST00000383806BRK1chr3

10157503

+FANCD2chr3

10138009

+
5CDS-3UTRENST00000256463ENST00000419585BRK1chr3

10157503

+FANCD2chr3

10134969

+
5CDS-3UTRENST00000256463ENST00000419585BRK1chr3

10157503

+FANCD2chr3

10136884

+
5CDS-3UTRENST00000256463ENST00000419585BRK1chr3

10157503

+FANCD2chr3

10138010

+
5CDS-3UTRENST00000256463ENST00000419585BRK1chr3

10157503

+FANCD2chr3

10136883

+
5CDS-3UTRENST00000256463ENST00000419585BRK1chr3

10157503

+FANCD2chr3

10138009

+
5CDS-3UTRENST00000530758ENST00000383806BRK1chr3

10157503

+FANCD2chr3

10134969

+
5CDS-3UTRENST00000530758ENST00000383806BRK1chr3

10157503

+FANCD2chr3

10136884

+
5CDS-3UTRENST00000530758ENST00000383806BRK1chr3

10157503

+FANCD2chr3

10138010

+
5CDS-3UTRENST00000530758ENST00000383806BRK1chr3

10157503

+FANCD2chr3

10136883

+
5CDS-3UTRENST00000530758ENST00000383806BRK1chr3

10157503

+FANCD2chr3

10138009

+
5CDS-3UTRENST00000530758ENST00000419585BRK1chr3

10157503

+FANCD2chr3

10134969

+
5CDS-3UTRENST00000530758ENST00000419585BRK1chr3

10157503

+FANCD2chr3

10136884

+
5CDS-3UTRENST00000530758ENST00000419585BRK1chr3

10157503

+FANCD2chr3

10138010

+
5CDS-3UTRENST00000530758ENST00000419585BRK1chr3

10157503

+FANCD2chr3

10136883

+
5CDS-3UTRENST00000530758ENST00000419585BRK1chr3

10157503

+FANCD2chr3

10138009

+
5CDS-intronENST00000256463ENST00000431693BRK1chr3

10157503

+FANCD2chr3

10134969

+
5CDS-intronENST00000256463ENST00000431693BRK1chr3

10157503

+FANCD2chr3

10136884

+
5CDS-intronENST00000256463ENST00000431693BRK1chr3

10157503

+FANCD2chr3

10138010

+
5CDS-intronENST00000256463ENST00000431693BRK1chr3

10157503

+FANCD2chr3

10136883

+
5CDS-intronENST00000256463ENST00000431693BRK1chr3

10157503

+FANCD2chr3

10138009

+
5CDS-intronENST00000256463ENST00000438741BRK1chr3

10157503

+FANCD2chr3

10134969

+
5CDS-intronENST00000256463ENST00000438741BRK1chr3

10157503

+FANCD2chr3

10136884

+
5CDS-intronENST00000256463ENST00000438741BRK1chr3

10157503

+FANCD2chr3

10138010

+
5CDS-intronENST00000256463ENST00000438741BRK1chr3

10157503

+FANCD2chr3

10136883

+
5CDS-intronENST00000256463ENST00000438741BRK1chr3

10157503

+FANCD2chr3

10138009

+
5CDS-intronENST00000530758ENST00000431693BRK1chr3

10157503

+FANCD2chr3

10134969

+
5CDS-intronENST00000530758ENST00000431693BRK1chr3

10157503

+FANCD2chr3

10136884

+
5CDS-intronENST00000530758ENST00000431693BRK1chr3

10157503

+FANCD2chr3

10138010

+
5CDS-intronENST00000530758ENST00000431693BRK1chr3

10157503

+FANCD2chr3

10136883

+
5CDS-intronENST00000530758ENST00000431693BRK1chr3

10157503

+FANCD2chr3

10138009

+
5CDS-intronENST00000530758ENST00000438741BRK1chr3

10157503

+FANCD2chr3

10134969

+
5CDS-intronENST00000530758ENST00000438741BRK1chr3

10157503

+FANCD2chr3

10136884

+
5CDS-intronENST00000530758ENST00000438741BRK1chr3

10157503

+FANCD2chr3

10138010

+
5CDS-intronENST00000530758ENST00000438741BRK1chr3

10157503

+FANCD2chr3

10136883

+
5CDS-intronENST00000530758ENST00000438741BRK1chr3

10157503

+FANCD2chr3

10138009

+
Frame-shiftENST00000256463ENST00000287647BRK1chr3

10157503

+FANCD2chr3

10134969

+
Frame-shiftENST00000256463ENST00000287647BRK1chr3

10157503

+FANCD2chr3

10136884

+
Frame-shiftENST00000256463ENST00000287647BRK1chr3

10157503

+FANCD2chr3

10138010

+
Frame-shiftENST00000256463ENST00000287647BRK1chr3

10157503

+FANCD2chr3

10136883

+
Frame-shiftENST00000256463ENST00000287647BRK1chr3

10157503

+FANCD2chr3

10138009

+
Frame-shiftENST00000256463ENST00000383807BRK1chr3

10157503

+FANCD2chr3

10134969

+
Frame-shiftENST00000256463ENST00000383807BRK1chr3

10157503

+FANCD2chr3

10136884

+
Frame-shiftENST00000256463ENST00000383807BRK1chr3

10157503

+FANCD2chr3

10138010

+
Frame-shiftENST00000256463ENST00000383807BRK1chr3

10157503

+FANCD2chr3

10136883

+
Frame-shiftENST00000256463ENST00000383807BRK1chr3

10157503

+FANCD2chr3

10138009

+
Frame-shiftENST00000530758ENST00000287647BRK1chr3

10157503

+FANCD2chr3

10134969

+
Frame-shiftENST00000530758ENST00000287647BRK1chr3

10157503

+FANCD2chr3

10136884

+
Frame-shiftENST00000530758ENST00000287647BRK1chr3

10157503

+FANCD2chr3

10138010

+
Frame-shiftENST00000530758ENST00000287647BRK1chr3

10157503

+FANCD2chr3

10136883

+
Frame-shiftENST00000530758ENST00000287647BRK1chr3

10157503

+FANCD2chr3

10138009

+
Frame-shiftENST00000530758ENST00000383807BRK1chr3

10157503

+FANCD2chr3

10134969

+
Frame-shiftENST00000530758ENST00000383807BRK1chr3

10157503

+FANCD2chr3

10136884

+
Frame-shiftENST00000530758ENST00000383807BRK1chr3

10157503

+FANCD2chr3

10138010

+
Frame-shiftENST00000530758ENST00000383807BRK1chr3

10157503

+FANCD2chr3

10136883

+
Frame-shiftENST00000530758ENST00000383807BRK1chr3

10157503

+FANCD2chr3

10138009

+

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 BRK1-FANCD2


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)
BRK1chr310157503+FANCD2chr310136883+0.0009306880.9990694
BRK1chr310157503+FANCD2chr310136883+0.0009306880.9990694
BRK1chr310157503+FANCD2chr310138009+0.0002019930.999798
BRK1chr310157503+FANCD2chr310138009+0.0002019930.999798
BRK1chr310157503+FANCD2chr310134968+8.58E-060.9999914
BRK1chr310157503+FANCD2chr310136883+0.0009306880.9990694
BRK1chr310157503+FANCD2chr310136883+0.0009306880.9990694
BRK1chr310157503+FANCD2chr310138009+0.0002019930.999798
BRK1chr310157503+FANCD2chr310138009+0.0002019930.999798
BRK1chr310157503+FANCD2chr310134968+8.58E-060.9999914


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 BRK1-FANCD2


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/:10157503/:10138010)
- 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 BRK1-FANCD2


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 BRK1-FANCD2


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 BRK1-FANCD2


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 BRK1-FANCD2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0015625Fanconi Anemia4CTD_human;GENOMICS_ENGLAND
TgeneC3160738FANCONI ANEMIA, COMPLEMENTATION GROUP D24CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0023418leukemia1CGI;GENOMICS_ENGLAND
TgeneC0023465Acute monocytic leukemia1GENOMICS_ENGLAND
TgeneC0023467Leukemia, Myelocytic, Acute1CGI;GENOMICS_ENGLAND
TgeneC0030312Pancytopenia1GENOMICS_ENGLAND
TgeneC0265219Miller Dieker syndrome1GENOMICS_ENGLAND
TgeneC1855710Bone marrow hypocellularity1GENOMICS_ENGLAND
TgeneC2239176Liver carcinoma1CTD_human
TgeneC3463824MYELODYSPLASTIC SYNDROME1GENOMICS_ENGLAND
TgeneC4228778Abnormality of radial ray1GENOMICS_ENGLAND