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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: 24164

FusionGeneSummary for NFATC2_DTX3L

check button Fusion gene summary
Fusion gene informationFusion gene name: NFATC2_DTX3L
Fusion gene ID: 24164
HgeneTgene
Gene symbol

NFATC2

DTX3L

Gene ID

4773

151636

Gene namenuclear factor of activated T cells 2deltex E3 ubiquitin ligase 3L
SynonymsNFAT1|NFATPBBAP|RNF143
Cytomap

20q13.2

3q21.1

Type of geneprotein-codingprotein-coding
Descriptionnuclear factor of activated T-cells, cytoplasmic 2NF-ATc2NFAT pre-existing subunitNFAT transcription complex, preexisting componentT cell transcription factor NFAT1nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2nuclear factE3 ubiquitin-protein ligase DTX3LB-lymphoma- and BAL-associated proteinRING-type E3 ubiquitin transferase DTX3Ldeltex 3 like, E3 ubiquitin ligasedeltex 3-likerhysin-2rhysin2
Modification date2018052320180519
UniProtAcc

Q13469

Q8TDB6

Ensembl transtripts involved in fusion geneENST00000371564, ENST00000396009, 
ENST00000609943, ENST00000610033, 
ENST00000414705, ENST00000609507, 
ENST00000296161, ENST00000383661, 
Fusion gene scores* DoF score4 X 4 X 3=484 X 5 X 1=20
# samples 35
** MAII scorelog2(3/48*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/20*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NFATC2 [Title/Abstract] AND DTX3L [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneNFATC2

GO:0016477

cell migration

21871017

HgeneNFATC2

GO:0045893

positive regulation of transcription, DNA-templated

15790681

HgeneNFATC2

GO:1905064

negative regulation of vascular smooth muscle cell differentiation

23853098

TgeneDTX3L

GO:0010390

histone monoubiquitination

19818714|28525742

TgeneDTX3L

GO:0070936

protein K48-linked ubiquitination

26479788

TgeneDTX3L

GO:1901666

positive regulation of NAD+ ADP-ribosyltransferase activity

28525742


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
ChiTaRS3.1BF850139NFATC2chr20

50154054

+DTX3Lchr3

122288489

+
* 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
intron-3CDSENST00000371564ENST00000296161NFATC2chr20

50154054

+DTX3Lchr3

122288489

+
intron-intronENST00000371564ENST00000383661NFATC2chr20

50154054

+DTX3Lchr3

122288489

+
intron-3CDSENST00000396009ENST00000296161NFATC2chr20

50154054

+DTX3Lchr3

122288489

+
intron-intronENST00000396009ENST00000383661NFATC2chr20

50154054

+DTX3Lchr3

122288489

+
intron-3CDSENST00000609943ENST00000296161NFATC2chr20

50154054

+DTX3Lchr3

122288489

+
intron-intronENST00000609943ENST00000383661NFATC2chr20

50154054

+DTX3Lchr3

122288489

+
intron-3CDSENST00000610033ENST00000296161NFATC2chr20

50154054

+DTX3Lchr3

122288489

+
intron-intronENST00000610033ENST00000383661NFATC2chr20

50154054

+DTX3Lchr3

122288489

+
intron-3CDSENST00000414705ENST00000296161NFATC2chr20

50154054

+DTX3Lchr3

122288489

+
intron-intronENST00000414705ENST00000383661NFATC2chr20

50154054

+DTX3Lchr3

122288489

+
intron-3CDSENST00000609507ENST00000296161NFATC2chr20

50154054

+DTX3Lchr3

122288489

+
intron-intronENST00000609507ENST00000383661NFATC2chr20

50154054

+DTX3Lchr3

122288489

+

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FusionProtFeatures for NFATC2_DTX3L


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NFATC2

Q13469

DTX3L

Q8TDB6

E3 ubiquitin-protein ligase which, in association withADP-ribosyltransferase PARP9, plays a role in DNA damage repairand in interferon-mediated antiviral responses (PubMed:12670957,PubMed:19818714, PubMed:26479788, PubMed:23230272).Monoubiquitinates several histones, including histone H2A, H2B, H3and H4 (PubMed:28525742). In response to DNA damage, mediatesmonoubiquitination of 'Lys-91' of histone H4 (H4K91ub1)(PubMed:19818714). The exact role of H4K91ub1 in DNA damageresponse is still unclear but it may function as a licensingsignal for additional histone H4 post-translational modificationssuch as H4 'Lys-20' methylation (H4K20me) (PubMed:19818714).PARP1-dependent PARP9-DTX3L-mediated ubiquitination promotes therapid and specific recruitment of 53BP1/TP53BP1, UIMC1/RAP80, andBRCA1 to DNA damage sites (PubMed:23230272). By monoubiquitinatinghistone H2B HIST1H2BH/H2BJ and thereby promoting chromatinremodeling, positively regulates STAT1-dependent interferon-stimulated gene transcription and thus STAT1-mediated control ofviral replication (PubMed:26479788). Independently of itscatalytic activity, promotes the sorting of chemokine receptorCXCR4 from early endosome to lysosome following CXCL12 stimulationby reducing E3 ligase ITCH activity and thus ITCH-mediatedubiquitination of endosomal sorting complex required for transportESCRT-0 components HGS and STAM (PubMed:24790097). In addition,required for the recruitment of HGS and STAM to early endosomes(PubMed:24790097). In association with PARP9, plays a role inantiviral responses by mediating 'Lys-48'-linked ubiquitination ofencephalomyocarditis virus (EMCV) and human rhinovirus (HRV) C3proteases and thus promoting their proteosomal-mediateddegradation (PubMed:26479788). {ECO:0000269|PubMed:12670957,ECO:0000269|PubMed:19818714, ECO:0000269|PubMed:23230272,ECO:0000269|PubMed:24790097, ECO:0000269|PubMed:26479788,ECO:0000269|PubMed:28525742}.

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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FusionGeneSequence for NFATC2_DTX3L


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 NFATC2_DTX3L


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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RelatedDrugs for NFATC2_DTX3L


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 NFATC2_DTX3L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNFATC2C0027765nervous system disorder1CTD_human