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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:CREBRF-NRDE2 (FusionGDB2 ID:19406)

Fusion Gene Summary for CREBRF-NRDE2

check button Fusion gene summary
Fusion gene informationFusion gene name: CREBRF-NRDE2
Fusion gene ID: 19406
HgeneTgene
Gene symbol

CREBRF

NRDE2

Gene ID

153222

55051

Gene nameCREB3 regulatory factorNRDE-2, necessary for RNA interference, domain containing
SynonymsC5orf41|LRFC14orf102
Cytomap

5q35.1

14q32.11

Type of geneprotein-codingprotein-coding
DescriptionCREB3 regulatory factorUPF0474 protein C5orf41adult retina proteinluman recruitment factorluman-recruiting factorluman/CREB3 recruitment factornuclear exosome regulator NRDE2UPF0614 protein C14orf102protein NRDE2 homolog
Modification date2020031320200313
UniProtAcc

Q8IUR6

Q9H7Z3

Ensembl transtripts involved in fusion geneENST00000296953, ENST00000520420, 
ENST00000522692, ENST00000540014, 
ENST00000517882, 
ENST00000354366, 
ENST00000357904, ENST00000557106, 
Fusion gene scores* DoF score5 X 3 X 3=453 X 3 X 2=18
# samples 53
** MAII scorelog2(5/45*10)=0.15200309344505
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: CREBRF [Title/Abstract] AND NRDE2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCREBRF(172483482)-NRDE2(90752836), # 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
HgeneCREBRF

GO:0045944

positive regulation of transcription by RNA polymerase II

16940180


check buttonFusion gene breakpoints across CREBRF (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 NRDE2 (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
ChimerDB4STADTCGA-CD-8527-01ACREBRFchr5

172483482

+NRDE2chr14

90752836

-


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Fusion Gene ORF analysis for CREBRF-NRDE2

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-3CDSENST00000296953ENST00000354366CREBRFchr5

172483482

+NRDE2chr14

90752836

-
5UTR-3CDSENST00000296953ENST00000357904CREBRFchr5

172483482

+NRDE2chr14

90752836

-
5UTR-3CDSENST00000520420ENST00000354366CREBRFchr5

172483482

+NRDE2chr14

90752836

-
5UTR-3CDSENST00000520420ENST00000357904CREBRFchr5

172483482

+NRDE2chr14

90752836

-
5UTR-3CDSENST00000522692ENST00000354366CREBRFchr5

172483482

+NRDE2chr14

90752836

-
5UTR-3CDSENST00000522692ENST00000357904CREBRFchr5

172483482

+NRDE2chr14

90752836

-
5UTR-3CDSENST00000540014ENST00000354366CREBRFchr5

172483482

+NRDE2chr14

90752836

-
5UTR-3CDSENST00000540014ENST00000357904CREBRFchr5

172483482

+NRDE2chr14

90752836

-
5UTR-intronENST00000296953ENST00000557106CREBRFchr5

172483482

+NRDE2chr14

90752836

-
5UTR-intronENST00000520420ENST00000557106CREBRFchr5

172483482

+NRDE2chr14

90752836

-
5UTR-intronENST00000522692ENST00000557106CREBRFchr5

172483482

+NRDE2chr14

90752836

-
5UTR-intronENST00000540014ENST00000557106CREBRFchr5

172483482

+NRDE2chr14

90752836

-
intron-3CDSENST00000517882ENST00000354366CREBRFchr5

172483482

+NRDE2chr14

90752836

-
intron-3CDSENST00000517882ENST00000357904CREBRFchr5

172483482

+NRDE2chr14

90752836

-
intron-intronENST00000517882ENST00000557106CREBRFchr5

172483482

+NRDE2chr14

90752836

-

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 CREBRF-NRDE2


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 CREBRF-NRDE2


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/:172483482/:90752836)
- 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
CREBRF

Q8IUR6

NRDE2

Q9H7Z3

FUNCTION: Acts as a negative regulator of the endoplasmic reticulum stress response or unfolded protein response (UPR). Represses the transcriptional activity of CREB3 during the UPR. Recruits CREB3 into nuclear foci. {ECO:0000269|PubMed:18391022}.FUNCTION: Protein of the nuclear speckles that regulates RNA degradation and export from the nucleus through its interaction with MTREX an essential factor directing various RNAs to exosomal degradation (PubMed:30842217). Changes the conformation of MTREX, precluding its association with the nuclear exosome and interaction with proteins required for its function in RNA exosomal degradation (PubMed:30842217). Negatively regulates, for instance, the degradation of mRNAs and lncRNAs by inhibiting their MTREX-mediated recruitment to nuclear exosome (PubMed:30842217). By preventing the degradation of RNAs in the nucleus, it promotes their export to the cytoplasm (PubMed:30842217). U5 snRNP-associated RNA splicing factor which is required for efficient splicing of CEP131 pre-mRNA and plays an important role in centrosome maturation, integrity and function during mitosis (PubMed:30538148). Suppresses intron retention in a subset of pre-mRNAs containing short, GC-rich introns with relatively weak 5' and 3' splice sites (PubMed:30538148). Plays a role in DNA damage response (PubMed:29902117). {ECO:0000269|PubMed:29902117, ECO:0000269|PubMed:30538148, ECO:0000269|PubMed:30842217}.

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 CREBRF-NRDE2


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 CREBRF-NRDE2


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 CREBRF-NRDE2


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 CREBRF-NRDE2


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