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Fusion gene ID: 9577 |
FusionGeneSummary for DDX21_BEX2 |
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Fusion gene information | Fusion gene name: DDX21_BEX2 | Fusion gene ID: 9577 | Hgene | Tgene | Gene symbol | DDX21 | BEX2 | Gene ID | 54606 | 84707 |
Gene name | DEAD-box helicase 56 | brain expressed X-linked 2 | |
Synonyms | DDX21|DDX26|NOH61 | BEX1|DJ79P11.1 | |
Cytomap | 7p13 | Xq22.2 | |
Type of gene | protein-coding | protein-coding | |
Description | probable ATP-dependent RNA helicase DDX5661-kd nucleolar helicaseATP-dependent 61 kDa nucleolar RNA helicaseDEAD (Asp-Glu-Ala-Asp) box helicase 56DEAD (Asp-Glu-Ala-Asp) box polypeptide 56DEAD box protein 21DEAD box protein 56DEAD-box RNA helicasen | protein BEX2brain-expressed X-linked protein 2hBex2 | |
Modification date | 20180522 | 20180519 | |
UniProtAcc | Q9NR30 | Q9BXY8 | |
Ensembl transtripts involved in fusion gene | ENST00000354185, | ENST00000372677, ENST00000536889, ENST00000372674, | |
Fusion gene scores | * DoF score | 6 X 7 X 2=84 | 1 X 1 X 1=1 |
# samples | 7 | 1 | |
** MAII score | log2(7/84*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: DDX21 [Title/Abstract] AND BEX2 [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 |
Tgene | BEX2 | GO:0042981 | regulation of apoptotic process | 19711341 |
Tgene | BEX2 | GO:0051726 | regulation of cell cycle | 19711341 |
![]() (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 | AW379411 | DDX21 | chr10 | 70742402 | - | BEX2 | chrX | 102564533 | - |
* 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 |
Frame-shift | ENST00000354185 | ENST00000372677 | DDX21 | chr10 | 70742402 | - | BEX2 | chrX | 102564533 | - |
In-frame | ENST00000354185 | ENST00000536889 | DDX21 | chr10 | 70742402 | - | BEX2 | chrX | 102564533 | - |
Frame-shift | ENST00000354185 | ENST00000372674 | DDX21 | chr10 | 70742402 | - | BEX2 | chrX | 102564533 | - |
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FusionProtFeatures for DDX21_BEX2 |
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Hgene | Tgene |
DDX21 | BEX2 |
RNA helicase that acts as a sensor of thetranscriptional status of both RNA polymerase (Pol) I and II:promotes ribosomal RNA (rRNA) processing and transcription frompolymerase II (Pol II) (PubMed:25470060). Binds various RNAs, suchas rRNAs, snoRNAs, 7SK and, at lower extent, mRNAs(PubMed:25470060). In the nucleolus, localizes to rDNA locus,where it directly binds rRNAs and snoRNAs, and promotes rRNAtranscription, processing and modification. Required for rRNA 2'-O-methylation, possibly by promoting the recruitment of late-acting snoRNAs SNORD56 and SNORD58 with pre-ribosomal complexes(PubMed:25470060, PubMed:25477391). In the nucleoplasm, binds 7SKRNA and is recruited to the promoters of Pol II-transcribed genes:acts by facilitating the release of P-TEFb from inhibitory 7SKsnRNP in a manner that is dependent on its helicase activity,thereby promoting transcription of its target genes(PubMed:25470060). Functions as cofactor for JUN-activatedtranscription: required for phosphorylation of JUN at 'Ser-77'(PubMed:11823437, PubMed:25260534). Can unwind double-stranded RNA(helicase) and can fold or introduce a secondary structure to asingle-stranded RNA (foldase) (PubMed:9461305). Involved in rRNAprocessing (PubMed:14559904, PubMed:18180292). May bind tospecific miRNA hairpins (PubMed:28431233).{ECO:0000269|PubMed:11823437, ECO:0000269|PubMed:14559904,ECO:0000269|PubMed:18180292, ECO:0000269|PubMed:25260534,ECO:0000269|PubMed:25470060, ECO:0000269|PubMed:25477391,ECO:0000269|PubMed:28431233, ECO:0000269|PubMed:9461305}. | Regulator of mitochondrial apoptosis and G1 cell cyclein breast cancer. Protects the breast cancer cells againstmitochondrial apoptosis and this effect is mediated through themodulation of BCL2 protein family, which involves the positiveregulation of anti-apoptotic member BCL2 and the negativeregulation of pro-apoptotic members BAD, BAK1 and PUMA. Requiredfor the normal cell cycle progression during G1 in breast cancercells through the regulation of CCND1 and CDKN1A. Regulates thelevel of PP2A regulatory subunit B and PP2A phosphatase activity.{ECO:0000269|PubMed:19711341}. |
![]() * 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 DDX21_BEX2 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
>In-frame_DDX21_ENST00000354185_chr10_70742402_-_BEX2_ENST00000536889_chrX_102564533_-_0aa |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_DDX21_ENST00000354185_chr10_70742402_-_BEX2_ENST00000536889_chrX_102564533_-_0nt |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_DDX21_ENST00000354185_chr10_70742402_-_BEX2_ENST00000536889_chrX_102564533_-_0nt |
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FusionGenePPI for DDX21_BEX2 |
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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 DDX21_BEX2 |
![]() (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 DDX21_BEX2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |