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Fusion gene ID: 13921 |
FusionGeneSummary for FRMPD3_RBM8A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FRMPD3_RBM8A | Fusion gene ID: 13921 | Hgene | Tgene | Gene symbol | FRMPD3 | RBM8A | Gene ID | 84443 | 9939 |
| Gene name | FERM and PDZ domain containing 3 | RNA binding motif protein 8A | |
| Synonyms | - | BOV-1A|BOV-1B|BOV-1C|C1DELq21.1|DEL1q21.1|MDS014|RBM8|RBM8B|TAR|Y14|ZNRP|ZRNP1 | |
| Cytomap | Xq22.3 | 1q21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | FERM and PDZ domain-containing protein 3 | RNA-binding protein 8ABOV-1RNA binding motif protein 8BRNA-binding protein Y14binder of OVCA1-1ribonucleoprotein RBM8ribonucleoprotein RBM8A | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q5JV73 | Q9Y5S9 | |
| Ensembl transtripts involved in fusion gene | ENST00000276185, ENST00000477796, | ENST00000330165, ENST00000369307, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 1=4 |
| # samples | 3 | 3 | |
| ** MAII score | log2(3/8*10)=1.90689059560852 | log2(3/4*10)=2.90689059560852 | |
| Context | PubMed: FRMPD3 [Title/Abstract] AND RBM8A [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 |
| 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 | AI962310 | FRMPD3 | chrX | 106848223 | - | RBM8A | chr1 | 145507770 | - | ||
| ChiTaRS3.1 | AW590132 | FRMPD3 | chrX | 106848223 | - | RBM8A | chr1 | 145507770 | - |
| * 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 |
| intron-intron | ENST00000276185 | ENST00000330165 | FRMPD3 | chrX | 106848223 | - | RBM8A | chr1 | 145507770 | - |
| intron-intron | ENST00000276185 | ENST00000369307 | FRMPD3 | chrX | 106848223 | - | RBM8A | chr1 | 145507770 | - |
| intron-intron | ENST00000477796 | ENST00000330165 | FRMPD3 | chrX | 106848223 | - | RBM8A | chr1 | 145507770 | - |
| intron-intron | ENST00000477796 | ENST00000369307 | FRMPD3 | chrX | 106848223 | - | RBM8A | chr1 | 145507770 | - |
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FusionProtFeatures for FRMPD3_RBM8A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FRMPD3 | RBM8A |
| Core component of the splicing-dependent multiproteinexon junction complex (EJC) deposited at splice junctions onmRNAs. The EJC is a dynamic structure consisting of core proteinsand several peripheral nuclear and cytoplasmic associated factorsthat join the complex only transiently either during EJC assemblyor during subsequent mRNA metabolism. The EJC marks the positionof the exon-exon junction in the mature mRNA for the geneexpression machinery and the core components remain bound tospliced mRNAs throughout all stages of mRNA metabolism therebyinfluencing downstream processes including nuclear mRNA export,subcellular mRNA localization, translation efficiency andnonsense-mediated mRNA decay (NMD). The MAGOH-RBM8A heterodimerinhibits the ATPase activity of EIF4A3, thereby trapping the ATP-bound EJC core onto spliced mRNA in a stable conformation. TheMAGOH-RBM8A heterodimer interacts with the EJC key regulator PYM1leading to EJC disassembly in the cytoplasm and translationenhancement of EJC-bearing spliced mRNAs by recruiting them to theribosomal 48S preinitiation complex. Its removal from cytoplasmicmRNAs requires translation initiation from EJC-bearing splicedmRNAs. Associates preferentially with mRNAs produced by splicing.Does not interact with pre-mRNAs, introns, or mRNAs produced fromintronless cDNAs. Associates with both nuclear mRNAs and newlyexported cytoplasmic mRNAs. The MAGOH-RBM8A heterodimer is acomponent of the nonsense mediated decay (NMD) pathway. Involvedin the splicing modulation of BCL2L1/Bcl-X (and probably otherapoptotic genes); specifically inhibits formation of proapoptoticisoforms such as Bcl-X(S); the function is different from theestablished EJC assembly. {ECO:0000269|PubMed:12121612,ECO:0000269|PubMed:12718880, ECO:0000269|PubMed:12730685,ECO:0000269|PubMed:16209946, ECO:0000269|PubMed:19409878,ECO:0000269|PubMed:22203037}. |
| 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 FRMPD3_RBM8A |
| 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 FRMPD3_RBM8A |
| 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 FRMPD3_RBM8A |
| 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 FRMPD3_RBM8A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | RBM8A | C0175703 | Thrombocytopenia-Absent Radius Syndrome | 1 | CTD_human;ORPHANET |
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