Fusion partner gene information | Fusion gene name: HNRNPA2B1-DSP |
FusionPDB ID: 37069 | FusionGDB2.0 ID: 37069 | | Hgene | Tgene | Gene symbol | HNRNPA2B1 | DSP | Gene ID | 3181 | 1834 | Gene name | heterogeneous nuclear ribonucleoprotein A2/B1 | dentin sialophosphoprotein |
Synonyms | HNRNPA2|HNRNPB1|HNRPA2|HNRPA2B1|HNRPB1|IBMPFD2|RNPA2|SNRPB1 | DFNA39|DGI1|DMP3|DPP|DSP |
Cytomap | 7p15.2 | 4q22.1 |
Type of gene | protein-coding | protein-coding |
Description | heterogeneous nuclear ribonucleoproteins A2/B1HNRNPA2B1/MYC fusionepididymis secretory sperm binding proteinhnRNP A2 / hnRNP B1nuclear ribonucleoprotein particle A2 protein | dentin sialophosphoproteindeafness, autosomal dominant 39dentin phosphophoryndentin phosphoproteindentin phosphoryndentin sialoprotein |
Modification date | 20200314 | 20200313 |
UniProtAcc | P22626 Main function of 5'-partner protein: FUNCTION: Heterogeneous nuclear ribonucleoprotein (hnRNP) that associates with nascent pre-mRNAs, packaging them into hnRNP particles. The hnRNP particle arrangement on nascent hnRNA is non-random and sequence-dependent and serves to condense and stabilize the transcripts and minimize tangling and knotting. Packaging plays a role in various processes such as transcription, pre-mRNA processing, RNA nuclear export, subcellular location, mRNA translation and stability of mature mRNAs (PubMed:19099192). Forms hnRNP particles with at least 20 other different hnRNP and heterogeneous nuclear RNA in the nucleus. Involved in transport of specific mRNAs to the cytoplasm in oligodendrocytes and neurons: acts by specifically recognizing and binding the A2RE (21 nucleotide hnRNP A2 response element) or the A2RE11 (derivative 11 nucleotide oligonucleotide) sequence motifs present on some mRNAs, and promotes their transport to the cytoplasm (PubMed:10567417). Specifically binds single-stranded telomeric DNA sequences, protecting telomeric DNA repeat against endonuclease digestion (By similarity). Also binds other RNA molecules, such as primary miRNA (pri-miRNAs): acts as a nuclear 'reader' of the N6-methyladenosine (m6A) mark by specifically recognizing and binding a subset of nuclear m6A-containing pri-miRNAs. Binding to m6A-containing pri-miRNAs promotes pri-miRNA processing by enhancing binding of DGCR8 to pri-miRNA transcripts (PubMed:26321680). Involved in miRNA sorting into exosomes following sumoylation, possibly by binding (m6A)-containing pre-miRNAs (PubMed:24356509). Acts as a regulator of efficiency of mRNA splicing, possibly by binding to m6A-containing pre-mRNAs (PubMed:26321680). Plays also a role in the activation of the innate immune response (PubMed:31320558). Mechanistically, senses the presence of viral DNA in the nucleus, homodimerizes and is demethylated by JMJD6 (PubMed:31320558). In turn, translocates to the cytoplasm where it activates the TBK1-IRF3 pathway, leading to interferon alpha/beta production (PubMed:31320558). {ECO:0000250|UniProtKB:A7VJC2, ECO:0000269|PubMed:10567417, ECO:0000269|PubMed:24356509, ECO:0000269|PubMed:26321680, ECO:0000303|PubMed:19099192}.; FUNCTION: (Microbial infection) Involved in the transport of HIV-1 genomic RNA out of the nucleus, to the microtubule organizing center (MTOC), and then from the MTOC to the cytoplasm: acts by specifically recognizing and binding the A2RE (21 nucleotide hnRNP A2 response element) sequence motifs present on HIV-1 genomic RNA, and promotes its transport. {ECO:0000269|PubMed:15294897, ECO:0000269|PubMed:17004321}. | P15924 Main function of 5'-partner protein: FUNCTION: Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes. |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000356674, ENST00000354667, ENST00000476233, | ENST00000379802, ENST00000418664, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 43 X 37 X 14=22274 | 22 X 19 X 10=4180 |
# samples | 50 | 26 |
** MAII score | log2(50/22274*10)=-5.47728875772656 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(26/4180*10)=-4.00691941393979 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Fusion gene context | PubMed: HNRNPA2B1 [Title/Abstract] AND DSP [Title/Abstract] AND fusion [Title/Abstract] |
Fusion neoantigen context | PubMed: HNRNPA2B1 [Title/Abstract] AND DSP [Title/Abstract] AND neoantigen [Title/Abstract] |
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | HNRNPA2B1(26231467)-DSP(7575528), # samples:1
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Anticipated loss of major functional domain due to fusion event. | HNRNPA2B1-DSP seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. HNRNPA2B1-DSP seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. HNRNPA2B1-DSP seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. HNRNPA2B1-DSP seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
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