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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:RRM1-PPFIBP2 (FusionGDB2 ID:77844)

Fusion Gene Summary for RRM1-PPFIBP2

check button Fusion gene summary
Fusion gene informationFusion gene name: RRM1-PPFIBP2
Fusion gene ID: 77844
HgeneTgene
Gene symbol

RRM1

PPFIBP2

Gene ID

6240

8495

Gene nameribonucleotide reductase catalytic subunit M1PPFIA binding protein 2
SynonymsR1|RIR1|RR1Cclp1
Cytomap

11p15.4

11p15.4

Type of geneprotein-codingprotein-coding
Descriptionribonucleoside-diphosphate reductase large subunitribonucleoside-diphosphate reductase subunit M1ribonucleotide reductase M1 polypeptideribonucleotide reductase, R1 subunitliprin-beta-2PTPRF interacting protein, binding protein 2 (liprin beta 2)liprin beta 2protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 2
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000300738, ENST00000423050, 
ENST00000534285, ENST00000537197, 
ENST00000528470, 		ENST00000299492, 
ENST00000533792, ENST00000528883, 
ENST00000530181, ENST00000530582, 
Fusion gene scores* DoF score6 X 5 X 2=607 X 7 X 3=147
# samples 77
** MAII scorelog2(7/60*10)=0.222392421336448
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(7/147*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RRM1 [Title/Abstract] AND PPFIBP2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRRM1(4116260)-PPFIBP2(7647039), # samples:1
Anticipated loss of major functional domain due to fusion event.RRM1-PPFIBP2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
RRM1-PPFIBP2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target 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

check buttonFusion gene breakpoints across RRM1 (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 PPFIBP2 (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-A8-A08G-01ARRM1chr11

4116260

+PPFIBP2chr11

7647039

-


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Fusion Gene ORF analysis for RRM1-PPFIBP2

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
Frame-shiftENST00000300738ENST00000299492RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
Frame-shiftENST00000300738ENST00000533792RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
Frame-shiftENST00000300738ENST00000528883RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
Frame-shiftENST00000300738ENST00000530181RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
5CDS-intronENST00000300738ENST00000530582RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
5UTR-3CDSENST00000423050ENST00000299492RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
5UTR-3CDSENST00000423050ENST00000533792RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
5UTR-3CDSENST00000423050ENST00000528883RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
5UTR-3CDSENST00000423050ENST00000530181RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
5UTR-intronENST00000423050ENST00000530582RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
intron-3CDSENST00000534285ENST00000299492RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
intron-3CDSENST00000534285ENST00000533792RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
intron-3CDSENST00000534285ENST00000528883RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
intron-3CDSENST00000534285ENST00000530181RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
intron-intronENST00000534285ENST00000530582RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
intron-3CDSENST00000537197ENST00000299492RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
intron-3CDSENST00000537197ENST00000533792RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
intron-3CDSENST00000537197ENST00000528883RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
intron-3CDSENST00000537197ENST00000530181RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
intron-intronENST00000537197ENST00000530582RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
intron-3CDSENST00000528470ENST00000299492RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
intron-3CDSENST00000528470ENST00000533792RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
intron-3CDSENST00000528470ENST00000528883RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
intron-3CDSENST00000528470ENST00000530181RRM1chr11

4116260

+PPFIBP2chr11

7647039

-
intron-intronENST00000528470ENST00000530582RRM1chr11

4116260

+PPFIBP2chr11

7647039

-

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 RRM1-PPFIBP2


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 RRM1-PPFIBP2


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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 RRM1-PPFIBP2


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 RRM1-PPFIBP2


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 RRM1-PPFIBP2


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 RRM1-PPFIBP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRRM1C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneRRM1C0011999Diastematomyelia1CTD_human
HgeneRRM1C0027794Neural Tube Defects1CTD_human
HgeneRRM1C0027806Neurenteric Cyst1CTD_human
HgeneRRM1C0080218Tethered Cord Syndrome1CTD_human
HgeneRRM1C0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneRRM1C0152234Iniencephaly1CTD_human
HgeneRRM1C0152426Craniorachischisis1CTD_human
HgeneRRM1C0206686Adrenocortical carcinoma1CTD_human
HgeneRRM1C0235874Disease Exacerbation1CTD_human
HgeneRRM1C0266453Exencephaly1CTD_human
HgeneRRM1C0344479Spinal Cord Myelodysplasia1CTD_human
HgeneRRM1C0702169Acrania1CTD_human
HgeneRRM1C2239176Liver carcinoma1CTD_human
TgenePPFIBP2C0033578Prostatic Neoplasms1CTD_human
TgenePPFIBP2C0376358Malignant neoplasm of prostate1CTD_human
TgenePPFIBP2C2931456Prostate cancer, familial1CTD_human
TgenePPFIBP2C4722327PROSTATE CANCER, HEREDITARY, 11CTD_human