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Fusion gene ID: 24164 |
FusionGeneSummary for NFATC2_DTX3L |
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Fusion gene information | Fusion gene name: NFATC2_DTX3L | Fusion gene ID: 24164 | Hgene | Tgene | Gene symbol | NFATC2 | DTX3L | Gene ID | 4773 | 151636 |
Gene name | nuclear factor of activated T cells 2 | deltex E3 ubiquitin ligase 3L | |
Synonyms | NFAT1|NFATP | BBAP|RNF143 | |
Cytomap | 20q13.2 | 3q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | nuclear 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 fact | E3 ubiquitin-protein ligase DTX3LB-lymphoma- and BAL-associated proteinRING-type E3 ubiquitin transferase DTX3Ldeltex 3 like, E3 ubiquitin ligasedeltex 3-likerhysin-2rhysin2 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q13469 | Q8TDB6 | |
Ensembl transtripts involved in fusion gene | ENST00000371564, ENST00000396009, ENST00000609943, ENST00000610033, ENST00000414705, ENST00000609507, | ENST00000296161, ENST00000383661, | |
Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 4 X 5 X 1=20 |
# samples | 3 | 5 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | NFATC2 | GO:0016477 | cell migration | 21871017 |
Hgene | NFATC2 | GO:0045893 | positive regulation of transcription, DNA-templated | 15790681 |
Hgene | NFATC2 | GO:1905064 | negative regulation of vascular smooth muscle cell differentiation | 23853098 |
Tgene | DTX3L | GO:0010390 | histone monoubiquitination | 19818714|28525742 |
Tgene | DTX3L | GO:0070936 | protein K48-linked ubiquitination | 26479788 |
Tgene | DTX3L | GO:1901666 | positive regulation of NAD+ ADP-ribosyltransferase activity | 28525742 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BF850139 | NFATC2 | chr20 | 50154054 | + | DTX3L | chr3 | 122288489 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3CDS | ENST00000371564 | ENST00000296161 | NFATC2 | chr20 | 50154054 | + | DTX3L | chr3 | 122288489 | + |
intron-intron | ENST00000371564 | ENST00000383661 | NFATC2 | chr20 | 50154054 | + | DTX3L | chr3 | 122288489 | + |
intron-3CDS | ENST00000396009 | ENST00000296161 | NFATC2 | chr20 | 50154054 | + | DTX3L | chr3 | 122288489 | + |
intron-intron | ENST00000396009 | ENST00000383661 | NFATC2 | chr20 | 50154054 | + | DTX3L | chr3 | 122288489 | + |
intron-3CDS | ENST00000609943 | ENST00000296161 | NFATC2 | chr20 | 50154054 | + | DTX3L | chr3 | 122288489 | + |
intron-intron | ENST00000609943 | ENST00000383661 | NFATC2 | chr20 | 50154054 | + | DTX3L | chr3 | 122288489 | + |
intron-3CDS | ENST00000610033 | ENST00000296161 | NFATC2 | chr20 | 50154054 | + | DTX3L | chr3 | 122288489 | + |
intron-intron | ENST00000610033 | ENST00000383661 | NFATC2 | chr20 | 50154054 | + | DTX3L | chr3 | 122288489 | + |
intron-3CDS | ENST00000414705 | ENST00000296161 | NFATC2 | chr20 | 50154054 | + | DTX3L | chr3 | 122288489 | + |
intron-intron | ENST00000414705 | ENST00000383661 | NFATC2 | chr20 | 50154054 | + | DTX3L | chr3 | 122288489 | + |
intron-3CDS | ENST00000609507 | ENST00000296161 | NFATC2 | chr20 | 50154054 | + | DTX3L | chr3 | 122288489 | + |
intron-intron | ENST00000609507 | ENST00000383661 | NFATC2 | chr20 | 50154054 | + | DTX3L | chr3 | 122288489 | + |
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FusionProtFeatures for NFATC2_DTX3L |
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Hgene | Tgene |
NFATC2 | DTX3L |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for NFATC2_DTX3L |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for NFATC2_DTX3L |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for NFATC2_DTX3L |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | NFATC2 | C0027765 | nervous system disorder | 1 | CTD_human |