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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:BRIP1-CUEDC1 (FusionGDB2 ID:10288)

Fusion Gene Summary for BRIP1-CUEDC1

check button Fusion gene summary
Fusion gene informationFusion gene name: BRIP1-CUEDC1
Fusion gene ID: 10288
HgeneTgene
Gene symbol

BRIP1

CUEDC1

Gene ID

83990

404093

Gene nameBRCA1 interacting protein C-terminal helicase 1CUE domain containing 1
SynonymsBACH1|FANCJ|OF-
Cytomap

17q23.2

17q22

Type of geneprotein-codingprotein-coding
DescriptionFanconi anemia group J proteinATP-dependent RNA helicase BRIP1BRCA1-associated C-terminal helicase 1BRCA1-binding helicase-like protein BACH1BRCA1/BRCA2-associated helicase 1CUE domain-containing protein 1
Modification date2020031520200313
UniProtAcc

Q9BX63

Q9NWM3

Ensembl transtripts involved in fusion geneENST00000259008, ENST00000577598, 
ENST00000583837, 
ENST00000360238, 
ENST00000577830, ENST00000407144, 
ENST00000577840, ENST00000578357, 
Fusion gene scores* DoF score3 X 4 X 1=1215 X 12 X 6=1080
# samples 416
** MAII scorelog2(4/12*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(16/1080*10)=-2.75488750216347
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BRIP1 [Title/Abstract] AND CUEDC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBRIP1(59853762)-CUEDC1(55963240), # samples:3
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
HgeneBRIP1

GO:0006357

regulation of transcription by RNA polymerase II

14504288


check buttonFusion gene breakpoints across BRIP1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CUEDC1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4BRCATCGA-C8-A275-01ABRIP1chr17

59853762

-CUEDC1chr17

55963240

-


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Fusion Gene ORF analysis for BRIP1-CUEDC1

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-5UTRENST00000259008ENST00000360238BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5CDS-5UTRENST00000259008ENST00000577830BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5CDS-5UTRENST00000577598ENST00000360238BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5CDS-5UTRENST00000577598ENST00000577830BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5CDS-intronENST00000259008ENST00000407144BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5CDS-intronENST00000259008ENST00000577840BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5CDS-intronENST00000259008ENST00000578357BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5CDS-intronENST00000577598ENST00000407144BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5CDS-intronENST00000577598ENST00000577840BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5CDS-intronENST00000577598ENST00000578357BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5UTR-5UTRENST00000583837ENST00000360238BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5UTR-5UTRENST00000583837ENST00000577830BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5UTR-intronENST00000583837ENST00000407144BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5UTR-intronENST00000583837ENST00000577840BRIP1chr17

59853762

-CUEDC1chr17

55963240

-
5UTR-intronENST00000583837ENST00000578357BRIP1chr17

59853762

-CUEDC1chr17

55963240

-

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 BRIP1-CUEDC1


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.

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 BRIP1-CUEDC1


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/:59853762/:55963240)
- 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
BRIP1

Q9BX63

CUEDC1

Q9NWM3

FUNCTION: DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1. {ECO:0000269|PubMed:11301010, ECO:0000269|PubMed:14983014, ECO:0000269|PubMed:16116421, ECO:0000269|PubMed:16153896}.

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 BRIP1-CUEDC1


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 BRIP1-CUEDC1


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 BRIP1-CUEDC1


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 BRIP1-CUEDC1


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