FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:DYNC1LI2-NAE1 (FusionGDB2 ID:24627)

Fusion Gene Summary for DYNC1LI2-NAE1

check button Fusion gene summary
Fusion gene informationFusion gene name: DYNC1LI2-NAE1
Fusion gene ID: 24627
HgeneTgene
Gene symbol

DYNC1LI2

NAE1

Gene ID

1783

8883

Gene namedynein cytoplasmic 1 light intermediate chain 2NEDD8 activating enzyme E1 subunit 1
SynonymsDNCLI2|LIC2A-116A10.1|APPBP1|HPP1|ula-1
Cytomap

16q22.1

16q22.1

Type of geneprotein-codingprotein-coding
Descriptioncytoplasmic dynein 1 light intermediate chain 2LIC-2LIC53/55dynein light intermediate chain 2, cytosolicdynein, cytoplasmic, light intermediate polypeptide 2NEDD8-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

O43237

Q13564

Ensembl transtripts involved in fusion geneENST00000258198, ENST00000379482, 
ENST00000443351, ENST00000440564, 
ENST00000570201, 		ENST00000564040, 
ENST00000290810, ENST00000359087, 
ENST00000379463, ENST00000394074, 
Fusion gene scores* DoF score6 X 8 X 3=1447 X 8 X 4=224
# samples 89
** MAII scorelog2(8/144*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
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: DYNC1LI2 [Title/Abstract] AND NAE1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDYNC1LI2(66783100)-NAE1(66839929), # 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
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 DYNC1LI2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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.
all structure

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
ChimerDB4ESCATCGA-VR-A8Q7-01ADYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
ChimerDB4ESCATCGA-VR-A8Q7DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
ChimerDB4ESCATCGA-VR-A8Q7DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-


Top

Fusion Gene ORF analysis for DYNC1LI2-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
5CDS-intronENST00000258198ENST00000564040DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
5CDS-intronENST00000258198ENST00000564040DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
5CDS-intronENST00000379482ENST00000564040DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
5CDS-intronENST00000379482ENST00000564040DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
5CDS-intronENST00000443351ENST00000564040DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
5CDS-intronENST00000443351ENST00000564040DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
In-frameENST00000258198ENST00000290810DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000258198ENST00000290810DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
In-frameENST00000258198ENST00000359087DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000258198ENST00000359087DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
In-frameENST00000258198ENST00000379463DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000258198ENST00000379463DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
In-frameENST00000258198ENST00000394074DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000258198ENST00000394074DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
In-frameENST00000379482ENST00000290810DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000379482ENST00000290810DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
In-frameENST00000379482ENST00000359087DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000379482ENST00000359087DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
In-frameENST00000379482ENST00000379463DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000379482ENST00000379463DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
In-frameENST00000379482ENST00000394074DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000379482ENST00000394074DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
In-frameENST00000443351ENST00000290810DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000443351ENST00000290810DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
In-frameENST00000443351ENST00000359087DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000443351ENST00000359087DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
In-frameENST00000443351ENST00000379463DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000443351ENST00000379463DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
In-frameENST00000443351ENST00000394074DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000443351ENST00000394074DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
intron-3CDSENST00000440564ENST00000290810DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
intron-3CDSENST00000440564ENST00000290810DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
intron-3CDSENST00000440564ENST00000359087DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
intron-3CDSENST00000440564ENST00000359087DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
intron-3CDSENST00000440564ENST00000379463DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
intron-3CDSENST00000440564ENST00000379463DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
intron-3CDSENST00000440564ENST00000394074DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
intron-3CDSENST00000440564ENST00000394074DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
intron-3CDSENST00000570201ENST00000290810DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
intron-3CDSENST00000570201ENST00000290810DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
intron-3CDSENST00000570201ENST00000359087DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
intron-3CDSENST00000570201ENST00000359087DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
intron-3CDSENST00000570201ENST00000379463DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
intron-3CDSENST00000570201ENST00000379463DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
intron-3CDSENST00000570201ENST00000394074DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
intron-3CDSENST00000570201ENST00000394074DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
intron-intronENST00000440564ENST00000564040DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
intron-intronENST00000440564ENST00000564040DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-
intron-intronENST00000570201ENST00000564040DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
intron-intronENST00000570201ENST00000564040DYNC1LI2chr16

66783099

-NAE1chr16

66839929

-

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

Top

Fusion Genomic Features for DYNC1LI2-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.
genomic feature

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.

Top

Fusion Protein Features for DYNC1LI2-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/chr16:66783100/chr16:66839929)
- 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
DYNC1LI2

O43237

NAE1

Q13564

FUNCTION: Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in binding dynein to membranous organelles or chromosomes.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
HgeneDYNC1LI2chr16:66783099chr16:66839929ENST00000258198-31361_6899493.0Nucleotide bindingATP
HgeneDYNC1LI2chr16:66783100chr16:66839929ENST00000258198-31361_6899493.0Nucleotide bindingATP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

Fusion Gene Sequence for DYNC1LI2-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.

Top

Fusion Gene PPI Analysis for DYNC1LI2-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
TgeneNAE1chr16:66783099chr16:66839929ENST000002908101620331_344443.3333333333333535.0UBA3
TgeneNAE1chr16:66783099chr16:66839929ENST000003794631721331_344437.3333333333333529.0UBA3
TgeneNAE1chr16:66783100chr16:66839929ENST000002908101620331_344443.3333333333333535.0UBA3
TgeneNAE1chr16:66783100chr16:66839929ENST000003794631721331_344437.3333333333333529.0UBA3


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs for DYNC1LI2-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

Top

Related Diseases for DYNC1LI2-NAE1


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