![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 27980 |
FusionGeneSummary for POLR2H_DTX3L |
![]() |
Fusion gene information | Fusion gene name: POLR2H_DTX3L | Fusion gene ID: 27980 | Hgene | Tgene | Gene symbol | POLR2H | DTX3L | Gene ID | 5437 | 151636 |
Gene name | RNA polymerase II subunit H | deltex E3 ubiquitin ligase 3L | |
Synonyms | RPABC3|RPB17|RPB8 | BBAP|RNF143 | |
Cytomap | 3q27.1 | 3q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | DNA-directed RNA polymerases I, II, and III subunit RPABC3DNA-directed RNA polymerase II subunit HDNA-directed RNA polymerases I, II, and III 17.1 kDa polypeptideRPB8 homologpolymerase (RNA) II (DNA directed) polypeptide Hpolymerase (RNA) II subunit | 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 | P52434 | Q8TDB6 | |
Ensembl transtripts involved in fusion gene | ENST00000456318, ENST00000438240, ENST00000460083, ENST00000430783, ENST00000443489, ENST00000452961, ENST00000296223, ENST00000429568, | ENST00000296161, ENST00000383661, | |
Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 4 X 5 X 1=20 |
# samples | 3 | 5 | |
** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). 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: POLR2H [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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | POLR2H | GO:0006366 | transcription by RNA polymerase II | 9852112 |
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 | BF001934 | POLR2H | chr3 | 184086046 | - | DTX3L | chr3 | 122292177 | - |
* 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 |
5CDS-3UTR | ENST00000456318 | ENST00000296161 | POLR2H | chr3 | 184086046 | - | DTX3L | chr3 | 122292177 | - |
5CDS-intron | ENST00000456318 | ENST00000383661 | POLR2H | chr3 | 184086046 | - | DTX3L | chr3 | 122292177 | - |
5CDS-3UTR | ENST00000438240 | ENST00000296161 | POLR2H | chr3 | 184086046 | - | DTX3L | chr3 | 122292177 | - |
5CDS-intron | ENST00000438240 | ENST00000383661 | POLR2H | chr3 | 184086046 | - | DTX3L | chr3 | 122292177 | - |
intron-3UTR | ENST00000460083 | ENST00000296161 | POLR2H | chr3 | 184086046 | - | DTX3L | chr3 | 122292177 | - |
intron-intron | ENST00000460083 | ENST00000383661 | POLR2H | chr3 | 184086046 | - | DTX3L | chr3 | 122292177 | - |
5CDS-3UTR | ENST00000430783 | ENST00000296161 | POLR2H | chr3 | 184086046 | - | DTX3L | chr3 | 122292177 | - |
5CDS-intron | ENST00000430783 | ENST00000383661 | POLR2H | chr3 | 184086046 | - | DTX3L | chr3 | 122292177 | - |
5CDS-3UTR | ENST00000443489 | ENST00000296161 | POLR2H | chr3 | 184086046 | - | DTX3L | chr3 | 122292177 | - |
5CDS-intron | ENST00000443489 | ENST00000383661 | POLR2H | chr3 | 184086046 | - | DTX3L | chr3 | 122292177 | - |
5CDS-3UTR | ENST00000452961 | ENST00000296161 | POLR2H | chr3 | 184086046 | - | DTX3L | chr3 | 122292177 | - |
5CDS-intron | ENST00000452961 | ENST00000383661 | POLR2H | chr3 | 184086046 | - | DTX3L | chr3 | 122292177 | - |
5CDS-3UTR | ENST00000296223 | ENST00000296161 | POLR2H | chr3 | 184086046 | - | DTX3L | chr3 | 122292177 | - |
5CDS-intron | ENST00000296223 | ENST00000383661 | POLR2H | chr3 | 184086046 | - | DTX3L | chr3 | 122292177 | - |
5CDS-3UTR | ENST00000429568 | ENST00000296161 | POLR2H | chr3 | 184086046 | - | DTX3L | chr3 | 122292177 | - |
5CDS-intron | ENST00000429568 | ENST00000383661 | POLR2H | chr3 | 184086046 | - | DTX3L | chr3 | 122292177 | - |
Top |
FusionProtFeatures for POLR2H_DTX3L |
![]() |
Hgene | Tgene |
POLR2H | DTX3L |
DNA-dependent RNA polymerase catalyzes the transcriptionof DNA into RNA using the four ribonucleoside triphosphates assubstrates. Common component of RNA polymerases I, II and IIIwhich synthesize ribosomal RNA precursors, mRNA precursors andmany functional non-coding RNAs, and small RNAs, such as 5S rRNAand tRNAs, respectively. {ECO:0000269|PubMed:9852112}. | 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 |
Top |
FusionGeneSequence for POLR2H_DTX3L |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for POLR2H_DTX3L |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for POLR2H_DTX3L |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for POLR2H_DTX3L |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |