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Fusion gene ID: 10325 |
FusionGeneSummary for DNM2_RELB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DNM2_RELB | Fusion gene ID: 10325 | Hgene | Tgene | Gene symbol | DNM2 | RELB | Gene ID | 1785 | 5971 |
| Gene name | dynamin 2 | RELB proto-oncogene, NF-kB subunit | |
| Synonyms | CMT2M|CMTDI1|CMTDIB|DI-CMTB|DYN2|DYNII|LCCS5 | I-REL|IMD53|IREL|REL-B | |
| Cytomap | 19p13.2 | 19q13.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | dynamin-2dynamin II | transcription factor RelBv-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)v-rel reticuloendotheliosis viral oncogene homolog B, nuclear factor of kappa light polypeptide gen | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P50570 | Q01201 | |
| Ensembl transtripts involved in fusion gene | ENST00000585892, ENST00000314646, ENST00000359692, ENST00000389253, ENST00000355667, ENST00000408974, ENST00000591819, | ENST00000221452, ENST00000540120, ENST00000505236, | |
| Fusion gene scores | * DoF score | 27 X 13 X 12=4212 | 2 X 2 X 2=8 |
| # samples | 31 | 3 | |
| ** MAII score | log2(31/4212*10)=-3.76416531575148 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/8*10)=1.90689059560852 | |
| Context | PubMed: DNM2 [Title/Abstract] AND RELB [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 | DNM2 | GO:1903526 | negative regulation of membrane tubulation | 18388313 |
| 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 |
| TCGA | RV | LIHC | TCGA-ZS-A9CF-02A | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| TCGA | RV | LIHC | TCGA-ZS-A9CF-01A | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| * 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 |
| Frame-shift | ENST00000585892 | ENST00000221452 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| Frame-shift | ENST00000585892 | ENST00000540120 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| Frame-shift | ENST00000585892 | ENST00000505236 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| Frame-shift | ENST00000314646 | ENST00000221452 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| Frame-shift | ENST00000314646 | ENST00000540120 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| Frame-shift | ENST00000314646 | ENST00000505236 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| Frame-shift | ENST00000359692 | ENST00000221452 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| Frame-shift | ENST00000359692 | ENST00000540120 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| Frame-shift | ENST00000359692 | ENST00000505236 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| Frame-shift | ENST00000389253 | ENST00000221452 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| Frame-shift | ENST00000389253 | ENST00000540120 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| Frame-shift | ENST00000389253 | ENST00000505236 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| Frame-shift | ENST00000355667 | ENST00000221452 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| Frame-shift | ENST00000355667 | ENST00000540120 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| Frame-shift | ENST00000355667 | ENST00000505236 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| Frame-shift | ENST00000408974 | ENST00000221452 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| Frame-shift | ENST00000408974 | ENST00000540120 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| Frame-shift | ENST00000408974 | ENST00000505236 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| intron-3CDS | ENST00000591819 | ENST00000221452 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| intron-3CDS | ENST00000591819 | ENST00000540120 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
| intron-3CDS | ENST00000591819 | ENST00000505236 | DNM2 | chr19 | 10829079 | + | RELB | chr19 | 45537502 | + |
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FusionProtFeatures for DNM2_RELB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DNM2 | RELB |
| Microtubule-associated force-producing protein involvedin producing microtubule bundles and able to bind and hydrolyzeGTP. Plays a role in the regulation of neuron morphology, axongrowth and formation of neuronal growth cones (By similarity).Plays an important role in vesicular trafficking processes, inparticular endocytosis. Involved in cytokinesis (PubMed:12498685).Regulates maturation of apoptotic cell corpse-containingphagosomes by recruiting PIK3C3 to the phagosome membrane (Bysimilarity). {ECO:0000250|UniProtKB:P39052,ECO:0000250|UniProtKB:P39054, ECO:0000269|PubMed:12498685}. | NF-kappa-B is a pleiotropic transcription factor whichis present in almost all cell types and is involved in manybiological processed such as inflammation, immunity,differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-likedomain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50,REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA oftheir target genes and the individual dimers have distinctpreferences for different kappa-B sites that they can bind withdistinguishable affinity and specificity. Different dimercombinations act as transcriptional activators or repressors,respectively. NF-kappa-B is controlled by various mechanisms ofpost-translational modification and subcellularcompartmentalization as well as by interactions with othercofactors or corepressors. NF-kappa-B complexes are held in thecytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activationpathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs)in response to different activators, subsequently degraded thusliberating the active NF-kappa-B complex which translocates to thenucleus. NF-kappa-B heterodimeric RelB-p50 and RelB-p52 complexesare transcriptional activators. RELB neither associates with DNAnor with RELA/p65 or REL. Stimulates promoter activity in thepresence of NFKB2/p49. As a member of the NUPR1/RELB/IER3 survivalpathway, may provide pancreatic ductal adenocarcinoma withremarkable resistance to cell stress, such as starvation orgemcitabine treatment. Regulates the circadian clock by repressingthe transcriptional activator activity of the CLOCK-ARNTL/BMAL1heterodimer in a CRY1/CRY2 independent manner. Increasedrepression of the heterodimer is seen in the presence ofNFKB2/p52. Is required for both T and B lymphocyte maturation andfunction (PubMed:26385063). {ECO:0000269|PubMed:1732739,ECO:0000269|PubMed:22565310, ECO:0000269|PubMed:26385063,ECO:0000269|PubMed:7925301, ECO:0000269|PubMed:8441398}. |
| 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 DNM2_RELB |
| 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 DNM2_RELB |
| 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 |
| DNM2 | SHANK1, SHANK2, SNX9, PDE6G, DDX39B, FER, EPS15, RUVBL2, MEPCE, RPAP2, GTF2E2, PACSIN1, PACSIN2, PACSIN3, TRIP10, PSTPIP1, FCHSD1, WIPI2, HMGB1, DNM1, RPS2, ATXN3, ZBTB16, MAN1B1, CCT7, RWDD2B, CCDC90B, DYNC1I1, TYK2, TIAM2, ITSN1, GDF9, SPRY2, ITSN2, SIRT7, SH3KBP1, CD2AP, AMPH, SH3GL2, SRC, GRB2, SHC1, APP, PICALM, RBMS1, SLC30A5, CTTN, FN1, VCAM1, PEX14, MANEA, KCNN3, ITGA4, AHI1, MPP6, FBXO6, FNBP1L, FNBP1, WBP4, EGFR, STAU1, DNM3, SCN2B, LYPD6, HTR6, BIN1, GBE1, GGA1, PTPN13, RPE, RTCB, NTRK1, OFD1, FGFR1OP, CNTRL, FBF1, NPHP1, DCTN1, RPGR, TCTN1, XRCC6, HNRNPD, PLK1, PML, BUB3, RHOU, SNW1, CDC5L, PTPN11, PIK3R1, PDGFRA, SNX18, GYPB, TMEM9B, TBC1D15, ZBBX, RBM3, DNALI1, TRIM25, TES | RELB | NFKB1, NFKB2, ACTL6A, BCL7A, HDAC6, KPNA2, KPNA6, RELA, DPF2, SMARCA4, SMARCC1, SMARCC2, SMARCE1, SMARCB1, USP11, BCL3, NFKBIA, EHMT2, CBX3, DAXX, YY1, EZH2, SUZ12, RAC1, MALT1, COMMD1, COMMD2, COMMD4, COMMD5, COMMD8, COMMD9, COMMD10, GSK3B, DNMT1, CTSL, CDK1, MT1M, MTAP, UQCRFS1, BUD31, NEK6, REL, XPO1, STAT3, NFKBIE, TNIP2, CTBS, SMARCD2, SMARCD1, SMARCA2, KLHL20, SMARCD3 |
| - 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 DNM2_RELB |
| 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 DNM2_RELB |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DNM2 | C1834558 | Myopathy, Centronuclear, Autosomal Dominant | 9 | CTD_human;ORPHANET;UNIPROT |
| Hgene | DNM2 | C1847902 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) | 4 | CTD_human;ORPHANET;UNIPROT |
| Hgene | DNM2 | C0752282 | Congenital Structural Myopathy | 1 | CTD_human |
| Hgene | DNM2 | C3809272 | LETHAL CONGENITAL CONTRACTURE SYNDROME 5 | 1 | ORPHANET;UNIPROT |
| Tgene | RELB | C0018843 | Heat Stroke | 1 | CTD_human |
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