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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 10775

FusionGeneSummary for DYNC1LI2_NAE1

check button Fusion gene summary
Fusion gene informationFusion gene name: DYNC1LI2_NAE1
Fusion gene ID: 10775
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 date2018052320180523
UniProtAcc

O43237

Q13564

Ensembl transtripts involved in fusion geneENST00000258198, ENST00000379482, 
ENST00000443351, ENST00000570201, 
ENST00000440564, 
ENST00000359087, 
ENST00000290810, ENST00000379463, 
ENST00000394074, ENST00000564040, 
Fusion gene scores* DoF score4 X 4 X 2=323 X 4 X 2=24
# samples 44
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DYNC1LI2 [Title/Abstract] AND NAE1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVESCATCGA-VR-A8Q7-01ADYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
In-frameENST00000258198ENST00000359087DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000258198ENST00000290810DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000258198ENST00000379463DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000258198ENST00000394074DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
5CDS-intronENST00000258198ENST00000564040DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000379482ENST00000359087DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000379482ENST00000290810DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000379482ENST00000379463DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000379482ENST00000394074DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
5CDS-intronENST00000379482ENST00000564040DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000443351ENST00000359087DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000443351ENST00000290810DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000443351ENST00000379463DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
In-frameENST00000443351ENST00000394074DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
5CDS-intronENST00000443351ENST00000564040DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
intron-3CDSENST00000570201ENST00000359087DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
intron-3CDSENST00000570201ENST00000290810DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
intron-3CDSENST00000570201ENST00000379463DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
intron-3CDSENST00000570201ENST00000394074DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
intron-intronENST00000570201ENST00000564040DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
intron-3CDSENST00000440564ENST00000359087DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
intron-3CDSENST00000440564ENST00000290810DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
intron-3CDSENST00000440564ENST00000379463DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
intron-3CDSENST00000440564ENST00000394074DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-
intron-intronENST00000440564ENST00000564040DYNC1LI2chr16

66783100

-NAE1chr16

66839929

-

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FusionProtFeatures for DYNC1LI2_NAE1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DYNC1LI2

O43237

NAE1

Q13564

Acts as one of several non-catalytic accessorycomponents of the cytoplasmic dynein 1 complex that are thought tobe involved in linking dynein to cargos and to adapter proteinsthat regulate dynein function. Cytoplasmic dynein 1 acts as amotor for the intracellular retrograde motility of vesicles andorganelles along microtubules. May play a role in binding dyneinto membranous organelles or chromosomes. Regulatory subunit of the dimeric UBA3-NAE1 E1 enzyme.E1 activates NEDD8 by first adenylating its C-terminal glycineresidue with ATP, thereafter linking this residue to the sidechain of the catalytic cysteine, yielding a NEDD8-UBA3 thioesterand free AMP. E1 finally transfers NEDD8 to the catalytic cysteineof UBE2M. Necessary for cell cycle progression through the S-Mcheckpoint. Overexpression of NAE1 causes apoptosis throughderegulation 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
HgeneDYNC1LI2chr16:66783100chr16:66839929ENST00000258198-31361_6899493Nucleotide bindingATP

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


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FusionGeneSequence for DYNC1LI2_NAE1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
DYNC1LI2DMTN, ELAVL1, CUL3, APP, DYNC1H1, DYNC1LI1, DYNLT1, DYNLT3, DYNC1I2, DYNLRB1, FLNA, PRUNE2, DYNLL1, EIF3K, GNB2L1, HNRNPA2B1, RPSA, NMT1, RPS23, RPS26, RPS5, YBX1, TRIM58, C2CD2, CLUH, NTRK1, NINL, NIN, SNW1, CDC5L, DYNC1I1, PCBP4NAE1UBE2M, UBQLN4, APP, UBA3, TRIP12, UIMC1, NEDD8, TP53BP2, ALG8, SREBF2, APEX1, CAPN2, DCPS, MCTS1, MSN, ATIC, CAMK1D, NUCB2, PAFAH1B2, PDIA4, PROSC, RAP1GDS1, TATDN1, TUFM, NSFL1C, PAPSS1, PCYT2, PPP1R2, TXNRD1, XPO1, PINK1, UBE2F, ZBTB44, EXOC6, NUDCD3, PLOD1, UBA5, XRCC6, NTRK1, KRAS


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
TgeneNAE1chr16:66783100chr16:66839929ENST00000290810-1620331_344443535UBA3
TgeneNAE1chr16:66783100chr16:66839929ENST00000379463-1721331_344437529UBA3


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


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RelatedDrugs for DYNC1LI2_NAE1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for DYNC1LI2_NAE1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDYNC1LI2C0043094Weight Gain1CTD_human