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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:OAS1-RPH3A (FusionGDB2 ID:61261)

Fusion Gene Summary for OAS1-RPH3A

check button Fusion gene summary
Fusion gene informationFusion gene name: OAS1-RPH3A
Fusion gene ID: 61261
HgeneTgene
Gene symbol

OAS1

RPH3A

Gene ID

4938

22895

Gene name2'-5'-oligoadenylate synthetase 1rabphilin 3A
SynonymsE18/E16|IFI-4|OIAS|OIASI-
Cytomap

12q24.13

12q24.13

Type of geneprotein-codingprotein-coding
Description2'-5'-oligoadenylate synthase 1(2-5')oligo(A) synthase 12',5'-oligo A synthetase 12'-5'-oligoadenylate synthetase 1, 40/46kDa2'-5'-oligoisoadenylate synthetase 12-5A synthase 12-5A synthetase 1E16 (2'-5') oligo A synthetaserabphilin-3Aexophilin-1rabphilin 3A homolog
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000202917, ENST00000445409, 
ENST00000452357, ENST00000551241, 
ENST00000553185, 		ENST00000549913, 
ENST00000389385, ENST00000415485, 
ENST00000420983, ENST00000447659, 
ENST00000543106, ENST00000548866, 
ENST00000551052, 
Fusion gene scores* DoF score3 X 4 X 2=247 X 7 X 5=245
# samples 47
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: OAS1 [Title/Abstract] AND RPH3A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointOAS1(113349040)-RPH3A(113307564), # 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
HgeneOAS1

GO:0009615

response to virus

18931074

HgeneOAS1

GO:0045071

negative regulation of viral genome replication

18931074


check buttonFusion gene breakpoints across OAS1 (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 RPH3A (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
ChimerDB4CESCTCGA-VS-A9UB-01AOAS1chr12

113349040

-RPH3Achr12

113307564

+
ChimerDB4CESCTCGA-VS-A9UB-01AOAS1chr12

113349040

+RPH3Achr12

113307564

+


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Fusion Gene ORF analysis for OAS1-RPH3A

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-3UTRENST00000202917ENST00000549913OAS1chr12

113349040

+RPH3Achr12

113307564

+
5CDS-3UTRENST00000445409ENST00000549913OAS1chr12

113349040

+RPH3Achr12

113307564

+
5CDS-3UTRENST00000452357ENST00000549913OAS1chr12

113349040

+RPH3Achr12

113307564

+
5CDS-3UTRENST00000551241ENST00000549913OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000202917ENST00000389385OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000202917ENST00000415485OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000202917ENST00000420983OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000202917ENST00000447659OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000202917ENST00000543106OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000202917ENST00000548866OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000202917ENST00000551052OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000445409ENST00000389385OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000445409ENST00000415485OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000445409ENST00000420983OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000445409ENST00000447659OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000445409ENST00000543106OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000445409ENST00000548866OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000445409ENST00000551052OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000452357ENST00000389385OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000452357ENST00000415485OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000452357ENST00000420983OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000452357ENST00000447659OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000452357ENST00000543106OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000452357ENST00000548866OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000452357ENST00000551052OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000551241ENST00000389385OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000551241ENST00000415485OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000551241ENST00000420983OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000551241ENST00000447659OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000551241ENST00000543106OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000551241ENST00000548866OAS1chr12

113349040

+RPH3Achr12

113307564

+
Frame-shiftENST00000551241ENST00000551052OAS1chr12

113349040

+RPH3Achr12

113307564

+
intron-3CDSENST00000553185ENST00000389385OAS1chr12

113349040

+RPH3Achr12

113307564

+
intron-3CDSENST00000553185ENST00000415485OAS1chr12

113349040

+RPH3Achr12

113307564

+
intron-3CDSENST00000553185ENST00000420983OAS1chr12

113349040

+RPH3Achr12

113307564

+
intron-3CDSENST00000553185ENST00000447659OAS1chr12

113349040

+RPH3Achr12

113307564

+
intron-3CDSENST00000553185ENST00000543106OAS1chr12

113349040

+RPH3Achr12

113307564

+
intron-3CDSENST00000553185ENST00000548866OAS1chr12

113349040

+RPH3Achr12

113307564

+
intron-3CDSENST00000553185ENST00000551052OAS1chr12

113349040

+RPH3Achr12

113307564

+
intron-3UTRENST00000553185ENST00000549913OAS1chr12

113349040

+RPH3Achr12

113307564

+

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 OAS1-RPH3A


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)
OAS1chr12113349040+RPH3Achr12113307563+7.54E-050.99992454
OAS1chr12113349040+RPH3Achr12113307563+7.54E-050.99992454

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.
genomic feature of top 1%

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Fusion Protein Features for OAS1-RPH3A


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/:113349040/:113307564)
- 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 OAS1-RPH3A


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 OAS1-RPH3A


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 OAS1-RPH3A


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 OAS1-RPH3A


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