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Fusion gene ID: 10670 |
FusionGeneSummary for DTX3L_HLA-DRB5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DTX3L_HLA-DRB5 | Fusion gene ID: 10670 | Hgene | Tgene | Gene symbol | DTX3L | HLA-DRB5 | Gene ID | 151636 | 3127 |
| Gene name | deltex E3 ubiquitin ligase 3L | major histocompatibility complex, class II, DR beta 5 | |
| Synonyms | BBAP|RNF143 | - | |
| Cytomap | 3q21.1 | 6p21.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase DTX3LB-lymphoma- and BAL-associated proteinRING-type E3 ubiquitin transferase DTX3Ldeltex 3 like, E3 ubiquitin ligasedeltex 3-likerhysin-2rhysin2 | major histocompatibility complex, class II, DR beta 5DR beta-5HLA class II histocompatibility antigen, DR-5 beta chainMHC class II antigen DRB5 | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q8TDB6 | Q30154 | |
| Ensembl transtripts involved in fusion gene | ENST00000296161, ENST00000383661, | ENST00000374975, | |
| Fusion gene scores | * DoF score | 4 X 5 X 2=40 | 3 X 4 X 1=12 |
| # samples | 6 | 5 | |
| ** MAII score | log2(6/40*10)=0.584962500721156 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/12*10)=2.05889368905357 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: DTX3L [Title/Abstract] AND HLA-DRB5 [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | DTX3L | GO:0010390 | histone monoubiquitination | 19818714|28525742 |
| Hgene | DTX3L | GO:0070936 | protein K48-linked ubiquitination | 26479788 |
| Hgene | DTX3L | GO:1901666 | positive regulation of NAD+ ADP-ribosyltransferase activity | 28525742 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | AX748303 | DTX3L | chr3 | 122293268 | + | HLA-DRB5 | chr6 | 32485331 | - | ||
| ChiTaRS3.1 | AK093782 | DTX3L | chr3 | 122293268 | + | HLA-DRB5 | chr6 | 32485331 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 3UTR-3UTR | ENST00000296161 | ENST00000374975 | DTX3L | chr3 | 122293268 | + | HLA-DRB5 | chr6 | 32485331 | - |
| intron-3UTR | ENST00000383661 | ENST00000374975 | DTX3L | chr3 | 122293268 | + | HLA-DRB5 | chr6 | 32485331 | - |
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FusionProtFeatures for DTX3L_HLA-DRB5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DTX3L | HLA-DRB5 |
| 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}. |
| Retention 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 . * 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 DTX3L_HLA-DRB5 |
| 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 DTX3L_HLA-DRB5 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for DTX3L_HLA-DRB5 |
| Drugs targeting genes involved in this fusion gene. (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 DTX3L_HLA-DRB5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | HLA-DRB5 | C0020517 | Hypersensitivity | 1 | CTD_human |
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