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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:PRR5L-ITPA (FusionGDB2 ID:69185)

Fusion Gene Summary for PRR5L-ITPA

check button Fusion gene summary
Fusion gene informationFusion gene name: PRR5L-ITPA
Fusion gene ID: 69185
HgeneTgene
Gene symbol

PRR5L

ITPA

Gene ID

79899

3704

Gene nameproline rich 5 likeinosine triphosphatase
SynonymsPROTOR2C20orf37|HLC14-06-P|ITPase|My049|NTPase|dJ794I6.3
Cytomap

11p13-p12

20p13

Type of geneprotein-codingprotein-coding
Descriptionproline-rich protein 5-likeProtein observed with Rictor-2protor-2inosine triphosphate pyrophosphataseepididymis secretory sperm binding proteininosine triphosphatase (nucleoside triphosphate pyrophosphatase)inosine triphosphate pyrophosphohydrolasenon-canonical purine NTP pyrophosphatasenon-standard purine NTP pyr
Modification date2020032020200320
UniProtAcc.

Q9BY32

Ensembl transtripts involved in fusion geneENST00000311599, ENST00000378867, 
ENST00000527487, ENST00000530639, 
ENST00000389693, 		ENST00000380113, 
ENST00000399838, ENST00000455664, 
ENST00000483354, 
Fusion gene scores* DoF score3 X 3 X 3=277 X 6 X 6=252
# samples 38
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(8/252*10)=-1.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PRR5L [Title/Abstract] AND ITPA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPRR5L(36424928)-ITPA(3202487), # 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
HgenePRR5L

GO:0038203

TORC2 signaling

22609986


check buttonFusion gene breakpoints across PRR5L (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 ITPA (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
ChimerDB4UCECTCGA-AJ-A3NF-01APRR5Lchr11

36424928

-ITPAchr20

3202487

+
ChimerDB4UCECTCGA-AJ-A3NF-01APRR5Lchr11

36424928

+ITPAchr20

3202487

+


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Fusion Gene ORF analysis for PRR5L-ITPA

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-3UTRENST00000311599ENST00000380113PRR5Lchr11

36424928

+ITPAchr20

3202487

+
5CDS-3UTRENST00000311599ENST00000399838PRR5Lchr11

36424928

+ITPAchr20

3202487

+
5CDS-3UTRENST00000311599ENST00000455664PRR5Lchr11

36424928

+ITPAchr20

3202487

+
5CDS-3UTRENST00000311599ENST00000483354PRR5Lchr11

36424928

+ITPAchr20

3202487

+
5CDS-3UTRENST00000378867ENST00000380113PRR5Lchr11

36424928

+ITPAchr20

3202487

+
5CDS-3UTRENST00000378867ENST00000399838PRR5Lchr11

36424928

+ITPAchr20

3202487

+
5CDS-3UTRENST00000378867ENST00000455664PRR5Lchr11

36424928

+ITPAchr20

3202487

+
5CDS-3UTRENST00000378867ENST00000483354PRR5Lchr11

36424928

+ITPAchr20

3202487

+
5CDS-3UTRENST00000527487ENST00000380113PRR5Lchr11

36424928

+ITPAchr20

3202487

+
5CDS-3UTRENST00000527487ENST00000399838PRR5Lchr11

36424928

+ITPAchr20

3202487

+
5CDS-3UTRENST00000527487ENST00000455664PRR5Lchr11

36424928

+ITPAchr20

3202487

+
5CDS-3UTRENST00000527487ENST00000483354PRR5Lchr11

36424928

+ITPAchr20

3202487

+
5CDS-3UTRENST00000530639ENST00000380113PRR5Lchr11

36424928

+ITPAchr20

3202487

+
5CDS-3UTRENST00000530639ENST00000399838PRR5Lchr11

36424928

+ITPAchr20

3202487

+
5CDS-3UTRENST00000530639ENST00000455664PRR5Lchr11

36424928

+ITPAchr20

3202487

+
5CDS-3UTRENST00000530639ENST00000483354PRR5Lchr11

36424928

+ITPAchr20

3202487

+
intron-3UTRENST00000389693ENST00000380113PRR5Lchr11

36424928

+ITPAchr20

3202487

+
intron-3UTRENST00000389693ENST00000399838PRR5Lchr11

36424928

+ITPAchr20

3202487

+
intron-3UTRENST00000389693ENST00000455664PRR5Lchr11

36424928

+ITPAchr20

3202487

+
intron-3UTRENST00000389693ENST00000483354PRR5Lchr11

36424928

+ITPAchr20

3202487

+

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 PRR5L-ITPA


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)
PRR5Lchr1136424928+ITPAchr203202486+9.27E-050.99990726
PRR5Lchr1136424928+ITPAchr203202486+9.27E-050.99990726

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 PRR5L-ITPA


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/:36424928/:3202487)
- 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
.ITPA

Q9BY32

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: Pyrophosphatase that hydrolyzes the non-canonical purine nucleotides inosine triphosphate (ITP), deoxyinosine triphosphate (dITP) as well as 2'-deoxy-N-6-hydroxylaminopurine triposphate (dHAPTP) and xanthosine 5'-triphosphate (XTP) to their respective monophosphate derivatives. The enzyme does not distinguish between the deoxy- and ribose forms. Probably excludes non-canonical purines from RNA and DNA precursor pools, thus preventing their incorporation into RNA and DNA and avoiding chromosomal lesions. {ECO:0000255|HAMAP-Rule:MF_03148, ECO:0000269|PubMed:17090528}.

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 PRR5L-ITPA


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 PRR5L-ITPA


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 PRR5L-ITPA


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 PRR5L-ITPA


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