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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:NAV1-CEP164 (FusionGDB2 ID:57320)

Fusion Gene Summary for NAV1-CEP164

check button Fusion gene summary
Fusion gene informationFusion gene name: NAV1-CEP164
Fusion gene ID: 57320
HgeneTgene
Gene symbol

NAV1

CEP164

Gene ID

89796

22897

Gene nameneuron navigator 1centrosomal protein 164
SynonymsPOMFIL3|STEERIN1|UNC53H1NPHP15
Cytomap

1q32.1

11q23.3

Type of geneprotein-codingprotein-coding
Descriptionneuron navigator 1pore membrane and/or filament interacting like protein 3unc-53 homolog 1centrosomal protein of 164 kDacentrosomal protein 164kDa
Modification date2020031320200320
UniProtAcc

Q8NEY1

Q9UPV0

Ensembl transtripts involved in fusion geneENST00000367295, ENST00000295624, 
ENST00000367296, ENST00000367297, 
ENST00000367300, ENST00000367302, 
ENST00000469130, 
ENST00000278935, 
ENST00000533706, 
Fusion gene scores* DoF score13 X 10 X 5=6504 X 5 X 4=80
# samples 145
** MAII scorelog2(14/650*10)=-2.21501289097085
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NAV1 [Title/Abstract] AND CEP164 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNAV1(201709204)-CEP164(117209281), # 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 buttonFusion gene breakpoints across NAV1 (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 CEP164 (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
ChimerDB4KIRPTCGA-B9-4113NAV1chr1

201709204

+CEP164chr11

117209281

+


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Fusion Gene ORF analysis for NAV1-CEP164

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-5UTRENST00000367295ENST00000278935NAV1chr1

201709204

+CEP164chr11

117209281

+
5CDS-intronENST00000367295ENST00000533706NAV1chr1

201709204

+CEP164chr11

117209281

+
intron-5UTRENST00000295624ENST00000278935NAV1chr1

201709204

+CEP164chr11

117209281

+
intron-5UTRENST00000367296ENST00000278935NAV1chr1

201709204

+CEP164chr11

117209281

+
intron-5UTRENST00000367297ENST00000278935NAV1chr1

201709204

+CEP164chr11

117209281

+
intron-5UTRENST00000367300ENST00000278935NAV1chr1

201709204

+CEP164chr11

117209281

+
intron-5UTRENST00000367302ENST00000278935NAV1chr1

201709204

+CEP164chr11

117209281

+
intron-5UTRENST00000469130ENST00000278935NAV1chr1

201709204

+CEP164chr11

117209281

+
intron-intronENST00000295624ENST00000533706NAV1chr1

201709204

+CEP164chr11

117209281

+
intron-intronENST00000367296ENST00000533706NAV1chr1

201709204

+CEP164chr11

117209281

+
intron-intronENST00000367297ENST00000533706NAV1chr1

201709204

+CEP164chr11

117209281

+
intron-intronENST00000367300ENST00000533706NAV1chr1

201709204

+CEP164chr11

117209281

+
intron-intronENST00000367302ENST00000533706NAV1chr1

201709204

+CEP164chr11

117209281

+
intron-intronENST00000469130ENST00000533706NAV1chr1

201709204

+CEP164chr11

117209281

+

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 NAV1-CEP164


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)
NAV1chr1201709204+CEP164chr11117209281+0.83381420.16618575
NAV1chr1201709204+CEP164chr11117209281+0.83381420.16618575

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 NAV1-CEP164


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/:201709204/:117209281)
- 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
NAV1

Q8NEY1

CEP164

Q9UPV0

FUNCTION: May be involved in neuronal migration. {ECO:0000250}.FUNCTION: Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1. {ECO:0000269|PubMed:17954613, ECO:0000269|PubMed:18283122, ECO:0000269|PubMed:23348840}.

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 NAV1-CEP164


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 NAV1-CEP164


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 NAV1-CEP164


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 NAV1-CEP164


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