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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:NAE1-NAE1 (FusionGDB2 ID:57139)

Fusion Gene Summary for NAE1-NAE1

check button Fusion gene summary
Fusion gene informationFusion gene name: NAE1-NAE1
Fusion gene ID: 57139
HgeneTgene
Gene symbol

NAE1

NAE1

Gene ID

8883

8883

Gene nameNEDD8 activating enzyme E1 subunit 1NEDD8 activating enzyme E1 subunit 1
SynonymsA-116A10.1|APPBP1|HPP1|ula-1A-116A10.1|APPBP1|HPP1|ula-1
Cytomap

16q22.1

16q22.1

Type of geneprotein-codingprotein-coding
DescriptionNEDD8-activating enzyme E1 regulatory subunitAPP-BP1NEDD8-activating enzyme E1 subunitamyloid beta precursor protein binding protein 1, 59kDaamyloid beta precursor protein-binding protein 1, 59 kDaamyloid beta precursor protein-binding protein 1, 59kNEDD8-activating enzyme E1 regulatory subunitAPP-BP1NEDD8-activating enzyme E1 subunitamyloid beta precursor protein binding protein 1, 59kDaamyloid beta precursor protein-binding protein 1, 59 kDaamyloid beta precursor protein-binding protein 1, 59k
Modification date2020031320200313
UniProtAcc

Q13564

Q13564

Ensembl transtripts involved in fusion geneENST00000290810, ENST00000359087, 
ENST00000379463, ENST00000394074, 
ENST00000564040, 
ENST00000290810, 
ENST00000359087, ENST00000379463, 
ENST00000394074, ENST00000564040, 
Fusion gene scores* DoF score3 X 4 X 1=127 X 8 X 4=224
# samples 49
** MAII scorelog2(4/12*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(9/224*10)=-1.31550182572793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NAE1 [Title/Abstract] AND NAE1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNAE1(66847498)-NAE1(66847472), # samples:1
NAE1(66850555)-NAE1(66852462), # 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
HgeneNAE1

GO:0033314

mitotic DNA replication checkpoint

10722740

HgeneNAE1

GO:0042981

regulation of apoptotic process

14557245

HgeneNAE1

GO:0043523

regulation of neuron apoptotic process

10722740

HgeneNAE1

GO:0045116

protein neddylation

10207026|12740388

HgeneNAE1

GO:0051402

neuron apoptotic process

14557245

TgeneNAE1

GO:0033314

mitotic DNA replication checkpoint

10722740

TgeneNAE1

GO:0042981

regulation of apoptotic process

14557245

TgeneNAE1

GO:0043523

regulation of neuron apoptotic process

10722740

TgeneNAE1

GO:0045116

protein neddylation

10207026|12740388

TgeneNAE1

GO:0051402

neuron apoptotic process

14557245


check buttonFusion gene breakpoints across NAE1 (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 NAE1 (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/AAA165566NAE1chr16

66847498

-NAE1chr16

66847472

+
ChiTaRS5.0N/ABI042477NAE1chr16

66850555

-NAE1chr16

66852462

+


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Fusion Gene ORF analysis for NAE1-NAE1

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-3CDSENST00000290810ENST00000290810NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-3CDSENST00000290810ENST00000359087NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-3CDSENST00000290810ENST00000379463NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-3CDSENST00000290810ENST00000394074NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-3CDSENST00000359087ENST00000290810NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-3CDSENST00000359087ENST00000359087NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-3CDSENST00000359087ENST00000379463NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-3CDSENST00000359087ENST00000394074NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-3CDSENST00000379463ENST00000290810NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-3CDSENST00000379463ENST00000359087NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-3CDSENST00000379463ENST00000379463NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-3CDSENST00000379463ENST00000394074NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-3CDSENST00000394074ENST00000290810NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-3CDSENST00000394074ENST00000359087NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-3CDSENST00000394074ENST00000379463NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-3CDSENST00000394074ENST00000394074NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-3CDSENST00000564040ENST00000290810NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-3CDSENST00000564040ENST00000359087NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-3CDSENST00000564040ENST00000379463NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-3CDSENST00000564040ENST00000394074NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-intronENST00000290810ENST00000290810NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000290810ENST00000359087NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000290810ENST00000379463NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000290810ENST00000394074NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000290810ENST00000564040NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000290810ENST00000564040NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-intronENST00000359087ENST00000290810NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000359087ENST00000359087NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000359087ENST00000379463NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000359087ENST00000394074NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000359087ENST00000564040NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000359087ENST00000564040NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-intronENST00000379463ENST00000290810NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000379463ENST00000359087NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000379463ENST00000379463NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000379463ENST00000394074NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000379463ENST00000564040NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000379463ENST00000564040NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-intronENST00000394074ENST00000290810NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000394074ENST00000359087NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000394074ENST00000379463NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000394074ENST00000394074NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000394074ENST00000564040NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000394074ENST00000564040NAE1chr16

66850555

-NAE1chr16

66852462

+
intron-intronENST00000564040ENST00000290810NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000564040ENST00000359087NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000564040ENST00000379463NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000564040ENST00000394074NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000564040ENST00000564040NAE1chr16

66847498

-NAE1chr16

66847472

+
intron-intronENST00000564040ENST00000564040NAE1chr16

66850555

-NAE1chr16

66852462

+

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 NAE1-NAE1


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 NAE1-NAE1


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/:66847498/:66847472)
- 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
NAE1

Q13564

NAE1

Q13564

FUNCTION: Regulatory subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M. Necessary for cell cycle progression through the S-M checkpoint. Overexpression of NAE1 causes apoptosis through deregulation of NEDD8 conjugation. {ECO:0000269|PubMed:10207026, ECO:0000269|PubMed:10722740, ECO:0000269|PubMed:12740388}.FUNCTION: Regulatory subunit of the dimeric UBA3-NAE1 E1 enzyme. E1 activates NEDD8 by first adenylating its C-terminal glycine residue with ATP, thereafter linking this residue to the side chain of the catalytic cysteine, yielding a NEDD8-UBA3 thioester and free AMP. E1 finally transfers NEDD8 to the catalytic cysteine of UBE2M. Necessary for cell cycle progression through the S-M checkpoint. Overexpression of NAE1 causes apoptosis through deregulation of NEDD8 conjugation. {ECO:0000269|PubMed:10207026, ECO:0000269|PubMed:10722740, ECO:0000269|PubMed:12740388}.

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 NAE1-NAE1


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 NAE1-NAE1


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 NAE1-NAE1


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 NAE1-NAE1


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