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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:NAV2-NDUFAF2 (FusionGDB2 ID:57345)

Fusion Gene Summary for NAV2-NDUFAF2

check button Fusion gene summary
Fusion gene informationFusion gene name: NAV2-NDUFAF2
Fusion gene ID: 57345
HgeneTgene
Gene symbol

NAV2

NDUFAF2

Gene ID

89797

91942

Gene nameneuron navigator 2NADH:ubiquinone oxidoreductase complex assembly factor 2
SynonymsHELAD1|POMFIL2|RAINB1|STEERIN2|UNC53H2B17.2L|MC1DN10|MMTN|NDUFA12L|mimitin
Cytomap

11p15.1

5q12.1

Type of geneprotein-codingprotein-coding
Descriptionneuron navigator 2helicase, APC down-regulated 1pore membrane and/or filament-interacting-like protein 2retinoic acid inducible gene in neuroblastoma 1steerin-2unc-53 homolog 2NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2Myc-induced mitochondrial proteinNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2NADH dehydrogenase (ubiquinone) complex I, assembly factor 2NADH dehydrogenase 1
Modification date2020031320200313
UniProtAcc

Q8IVL1

Q8N183

Ensembl transtripts involved in fusion geneENST00000360655, ENST00000311043, 
ENST00000349880, ENST00000396085, 
ENST00000396087, ENST00000527559, 
ENST00000533917, ENST00000534229, 
ENST00000540292, 		ENST00000512623, 
ENST00000511107, ENST00000296597, 
Fusion gene scores* DoF score16 X 19 X 6=182413 X 7 X 9=819
# samples 1915
** MAII scorelog2(19/1824*10)=-3.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/819*10)=-2.44890095114513
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NAV2 [Title/Abstract] AND NDUFAF2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNAV2(19372574)-NDUFAF2(60368951), # samples:1
NAV2(19372574)-NDUFAF2(60368952), # samples:1
Anticipated loss of major functional domain due to fusion event.NAV2-NDUFAF2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
* 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 NAV2 (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 NDUFAF2 (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
ChimerDB4Non-CancerTCGA-HU-A4GP-11ANAV2chr11

19372574

+NDUFAF2chr5

60368951

+
ChimerDB4Non-CancerTCGA-HU-A4GP-11ANAV2chr11

19372574

+NDUFAF2chr5

60368952

+


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Fusion Gene ORF analysis for NAV2-NDUFAF2

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-3UTRENST00000360655ENST00000512623NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
5CDS-3UTRENST00000360655ENST00000512623NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
5CDS-intronENST00000360655ENST00000511107NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
5CDS-intronENST00000360655ENST00000511107NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
Frame-shiftENST00000360655ENST00000296597NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
Frame-shiftENST00000360655ENST00000296597NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-3CDSENST00000311043ENST00000296597NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-3CDSENST00000311043ENST00000296597NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-3CDSENST00000349880ENST00000296597NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-3CDSENST00000349880ENST00000296597NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-3CDSENST00000396085ENST00000296597NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-3CDSENST00000396085ENST00000296597NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-3CDSENST00000396087ENST00000296597NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-3CDSENST00000396087ENST00000296597NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-3CDSENST00000527559ENST00000296597NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-3CDSENST00000527559ENST00000296597NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-3CDSENST00000533917ENST00000296597NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-3CDSENST00000533917ENST00000296597NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-3CDSENST00000534229ENST00000296597NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-3CDSENST00000534229ENST00000296597NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-3CDSENST00000540292ENST00000296597NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-3CDSENST00000540292ENST00000296597NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-3UTRENST00000311043ENST00000512623NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-3UTRENST00000311043ENST00000512623NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-3UTRENST00000349880ENST00000512623NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-3UTRENST00000349880ENST00000512623NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-3UTRENST00000396085ENST00000512623NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-3UTRENST00000396085ENST00000512623NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-3UTRENST00000396087ENST00000512623NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-3UTRENST00000396087ENST00000512623NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-3UTRENST00000527559ENST00000512623NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-3UTRENST00000527559ENST00000512623NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-3UTRENST00000533917ENST00000512623NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-3UTRENST00000533917ENST00000512623NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-3UTRENST00000534229ENST00000512623NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-3UTRENST00000534229ENST00000512623NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-3UTRENST00000540292ENST00000512623NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-3UTRENST00000540292ENST00000512623NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-intronENST00000311043ENST00000511107NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-intronENST00000311043ENST00000511107NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-intronENST00000349880ENST00000511107NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-intronENST00000349880ENST00000511107NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-intronENST00000396085ENST00000511107NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-intronENST00000396085ENST00000511107NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-intronENST00000396087ENST00000511107NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-intronENST00000396087ENST00000511107NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-intronENST00000527559ENST00000511107NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-intronENST00000527559ENST00000511107NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-intronENST00000533917ENST00000511107NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-intronENST00000533917ENST00000511107NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-intronENST00000534229ENST00000511107NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-intronENST00000534229ENST00000511107NAV2chr11

19372574

+NDUFAF2chr5

60368952

+
intron-intronENST00000540292ENST00000511107NAV2chr11

19372574

+NDUFAF2chr5

60368951

+
intron-intronENST00000540292ENST00000511107NAV2chr11

19372574

+NDUFAF2chr5

60368952

+

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 NAV2-NDUFAF2


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)
NAV2chr1119372574+NDUFAF2chr560368951+2.68E-070.99999976
NAV2chr1119372574+NDUFAF2chr560368951+2.68E-070.99999976

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 NAV2-NDUFAF2


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/:19372574/:60368951)
- 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
NAV2

Q8IVL1

NDUFAF2

Q8N183

FUNCTION: Possesses 3' to 5' helicase activity and exonuclease activity. Involved in neuronal development, specifically in the development of different sensory organs. {ECO:0000269|PubMed:12214280, ECO:0000269|PubMed:15158073}.FUNCTION: Acts as a molecular chaperone for mitochondrial complex I assembly (PubMed:16200211, PubMed:19384974). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:16200211, PubMed:27626371). {ECO:0000269|PubMed:16200211, ECO:0000269|PubMed:19384974, ECO:0000269|PubMed:27626371}.

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 NAV2-NDUFAF2


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 NAV2-NDUFAF2


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 NAV2-NDUFAF2


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 NAV2-NDUFAF2


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