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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:PAGR1-NAV3 (FusionGDB2 ID:62362)

Fusion Gene Summary for PAGR1-NAV3

check button Fusion gene summary
Fusion gene informationFusion gene name: PAGR1-NAV3
Fusion gene ID: 62362
HgeneTgene
Gene symbol

PAGR1

NAV3

Gene ID

79447

89795

Gene namePAXIP1 associated glutamate rich protein 1neuron navigator 3
SynonymsC16orf53|GAS|PA1POMFIL1|STEERIN3|unc53H3
Cytomap

16p11.2

12q21.2

Type of geneprotein-codingprotein-coding
DescriptionPAXIP1-associated glutamate-rich protein 1PAXIP1-associated protein 1PTIP-associated 1 proteinPTIP-associated protein 1glutamate-rich coactivator associated with SRC1glutamate-rich coactivator interacting with SRC1glutamate-rich coactivator interactneuron navigator 3pore membrane and/or filament interacting like protein 1unc-53 homolog 3
Modification date2020031320200313
UniProtAcc

Q9BTK6

Q8IVL0

Ensembl transtripts involved in fusion geneENST00000320330, ENST00000609618, 
ENST00000228327, ENST00000266692, 
ENST00000397909, ENST00000536525, 
ENST00000541270, ENST00000552300, 
Fusion gene scores* DoF score5 X 5 X 3=7522 X 21 X 4=1848
# samples 520
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(20/1848*10)=-3.20789285164133
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PAGR1 [Title/Abstract] AND NAV3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPAGR1(29831425)-NAV3(78183284), # 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
HgenePAGR1

GO:0033148

positive regulation of intracellular estrogen receptor signaling pathway

19039327

HgenePAGR1

GO:0045944

positive regulation of transcription by RNA polymerase II

19039327


check buttonFusion gene breakpoints across PAGR1 (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 NAV3 (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
ChiTaRS5.0N/AAA523188PAGR1chr16

29831425

+NAV3chr12

78183284

+


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Fusion Gene ORF analysis for PAGR1-NAV3

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
3UTR-intronENST00000320330ENST00000228327PAGR1chr16

29831425

+NAV3chr12

78183284

+
3UTR-intronENST00000320330ENST00000266692PAGR1chr16

29831425

+NAV3chr12

78183284

+
3UTR-intronENST00000320330ENST00000397909PAGR1chr16

29831425

+NAV3chr12

78183284

+
3UTR-intronENST00000320330ENST00000536525PAGR1chr16

29831425

+NAV3chr12

78183284

+
3UTR-intronENST00000320330ENST00000541270PAGR1chr16

29831425

+NAV3chr12

78183284

+
3UTR-intronENST00000320330ENST00000552300PAGR1chr16

29831425

+NAV3chr12

78183284

+
3UTR-intronENST00000609618ENST00000228327PAGR1chr16

29831425

+NAV3chr12

78183284

+
3UTR-intronENST00000609618ENST00000266692PAGR1chr16

29831425

+NAV3chr12

78183284

+
3UTR-intronENST00000609618ENST00000397909PAGR1chr16

29831425

+NAV3chr12

78183284

+
3UTR-intronENST00000609618ENST00000536525PAGR1chr16

29831425

+NAV3chr12

78183284

+
3UTR-intronENST00000609618ENST00000541270PAGR1chr16

29831425

+NAV3chr12

78183284

+
3UTR-intronENST00000609618ENST00000552300PAGR1chr16

29831425

+NAV3chr12

78183284

+

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 PAGR1-NAV3


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 PAGR1-NAV3


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/:29831425/:78183284)
- 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
PAGR1

Q9BTK6

NAV3

Q8IVL0

FUNCTION: Its association with the histone methyltransferase MLL2/MLL3 complex is suggesting a role in epigenetic transcriptional activation. However, in association with PAXIP1/PTIP is proposed to function at least in part independently of the MLL2/MLL3 complex. Proposed to be recruited by PAXIP1 to sites of DNA damage where the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage independently of the MLL2/MLL3 complex (PubMed:19124460). However, its function in DNA damage has been questioned (By similarity). During immunoglobulin class switching in activated B-cells is involved in transcription regulation of downstream switch regions at the immunoglobulin heavy-chain (Igh) locus independently of the MLL2/MLL3 complex (By similarity). Involved in both estrogen receptor-regulated gene transcription and estrogen-stimulated G1/S cell-cycle transition (PubMed:19039327). Acts as transcriptional cofactor for nuclear hormone receptors. Inhibits the induction properties of several steroid receptors such as NR3C1, AR and PPARG; the mechanism of inhibition appears to be gene-dependent (PubMed:23161582). {ECO:0000250|UniProtKB:Q99L02, ECO:0000269|PubMed:19039327, ECO:0000269|PubMed:19124460, ECO:0000269|PubMed:23161582, ECO:0000305}.FUNCTION: May regulate IL2 production by T-cells. May be involved in neuron regeneration. {ECO:0000269|PubMed:16166283}.

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 PAGR1-NAV3


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 PAGR1-NAV3


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 PAGR1-NAV3


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 PAGR1-NAV3


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