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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:PNMA5-PPP1R18 (FusionGDB2 ID:HG114824TG170954)

Fusion Gene Summary for PNMA5-PPP1R18

check button Fusion gene summary
Fusion gene informationFusion gene name: PNMA5-PPP1R18
Fusion gene ID: hg114824tg170954
HgeneTgene
Gene symbol

PNMA5

PPP1R18

Gene ID

114824

170954

Gene namePNMA family member 5protein phosphatase 1 regulatory subunit 18
Synonyms-HKMT1098|KIAA1949
Cytomap('PNMA5')('PPP1R18')

Xq28

6p21.33

Type of geneprotein-codingprotein-coding
Descriptionparaneoplastic antigen-like protein 5paraneoplastic Ma antigen family member 5tumor antigen BJ-HCC-25phostensinprotein phosphatase 1 F-actin cytoskeleton targeting subunit
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000361887, ENST00000439251, 
ENST00000452693, ENST00000535214, 
ENST00000361887, ENST00000439251, 
ENST00000452693, ENST00000535214, 
Fusion gene scores* DoF score2 X 2 X 2=87 X 8 X 5=280
# samples 29
** MAII scorelog2(2/8*10)=1.32192809488736log2(9/280*10)=-1.63742992061529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PNMA5 [Title/Abstract] AND PPP1R18 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPNMA5(152159705)-PPP1R18(30644531), # 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


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
ChiTaRS5.0N/ABX390177PNMA5chrX

152159705

-PPP1R18chr6

30644531

-


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Fusion Gene ORF analysis for PNMA5-PPP1R18

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
intron-3UTRENST00000361887ENST00000274853PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-3UTRENST00000361887ENST00000399199PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-3UTRENST00000439251ENST00000274853PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-3UTRENST00000439251ENST00000399199PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-3UTRENST00000452693ENST00000274853PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-3UTRENST00000452693ENST00000399199PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-3UTRENST00000535214ENST00000274853PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-3UTRENST00000535214ENST00000399199PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-5UTRENST00000361887ENST00000488324PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-5UTRENST00000439251ENST00000488324PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-5UTRENST00000452693ENST00000488324PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-5UTRENST00000535214ENST00000488324PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000383573PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000400554PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000412189PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000435006PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000435929PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000437121PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000438815PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000438945PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000443517PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000444206PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000449705PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000451544PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000455935PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000465704PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000472334PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000487859PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000491628PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000492746PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000493833PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000498031PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000548255PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000550073PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000551034PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000551049PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000551784PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000361887ENST00000552716PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000383573PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000400554PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000412189PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000435006PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000435929PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000437121PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000438815PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000438945PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000443517PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000444206PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000449705PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000451544PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000455935PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000465704PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000472334PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000487859PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000491628PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000492746PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000493833PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000498031PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000548255PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000550073PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000551034PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000551049PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000551784PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000439251ENST00000552716PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000383573PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000400554PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000412189PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000435006PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000435929PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000437121PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000438815PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000438945PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000443517PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000444206PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000449705PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000451544PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000455935PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000465704PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000472334PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000487859PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000491628PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000492746PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000493833PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000498031PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000548255PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000550073PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000551034PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000551049PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000551784PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000452693ENST00000552716PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000383573PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000400554PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000412189PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000435006PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000435929PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000437121PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000438815PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000438945PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000443517PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000444206PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000449705PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000451544PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000455935PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000465704PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000472334PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000487859PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000491628PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000492746PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000493833PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000498031PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000548255PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000550073PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000551034PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000551049PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000551784PNMA5chrX

152159705

-PPP1R18chr6

30644531

-
intron-intronENST00000535214ENST00000552716PNMA5chrX

152159705

-PPP1R18chr6

30644531

-

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 PNMA5-PPP1R18


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)


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Fusion Protein Features for PNMA5-PPP1R18


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/:152159705/:30644531)
- 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 PNMA5-PPP1R18


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 PNMA5-PPP1R18


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 PNMA5-PPP1R18


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 PNMA5-PPP1R18


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human