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Fusion gene ID: 4048 |
FusionGeneSummary for BCL6_RHOH |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BCL6_RHOH | Fusion gene ID: 4048 | Hgene | Tgene | Gene symbol | BCL6 | RHOH | Gene ID | 604 | 399 |
| Gene name | B cell CLL/lymphoma 6 | ras homolog family member H | |
| Synonyms | BCL5|BCL6A|LAZ3|ZBTB27|ZNF51 | ARHH|TTF | |
| Cytomap | 3q27.3 | 4p14 | |
| Type of gene | protein-coding | protein-coding | |
| Description | B-cell lymphoma 6 proteinB-cell lymphoma 5 proteinB-cell lymphoma 6 protein transcriptBCL-5BCL-6cys-his2 zinc finger transcription factorlymphoma-associated zinc finger gene on chromosome 3protein LAZ-3zinc finger and BTB domain-containing protein | rho-related GTP-binding protein RhoHGTP-binding protein TTFTTF, translocation three fourras homolog gene family, member H | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P41182 | Q15669 | |
| Ensembl transtripts involved in fusion gene | ENST00000406870, ENST00000232014, ENST00000450123, ENST00000496823, | ENST00000505618, ENST00000381799, ENST00000514143, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 2 X 2 X 2=8 |
| # samples | 4 | 2 | |
| ** MAII score | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: BCL6 [Title/Abstract] AND RHOH [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 | BCL6 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 11929873|15577913 |
| Hgene | BCL6 | GO:0006974 | cellular response to DNA damage stimulus | 15577913 |
| Hgene | BCL6 | GO:0030308 | negative regulation of cell growth | 10490843 |
| Hgene | BCL6 | GO:0043065 | positive regulation of apoptotic process | 10490843 |
| Tgene | RHOH | GO:0043124 | negative regulation of I-kappaB kinase/NF-kappaB signaling | 11809807 |
| 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 | LD | DLBC | TCGA-G8-6906-01A | BCL6 | chr3 | 187463198 | - | RHOH | chr4 | 40244334 | + |
| * 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 |
| 5UTR-5UTR | ENST00000406870 | ENST00000505618 | BCL6 | chr3 | 187463198 | - | RHOH | chr4 | 40244334 | + |
| 5UTR-5UTR | ENST00000406870 | ENST00000381799 | BCL6 | chr3 | 187463198 | - | RHOH | chr4 | 40244334 | + |
| 5UTR-intron | ENST00000406870 | ENST00000514143 | BCL6 | chr3 | 187463198 | - | RHOH | chr4 | 40244334 | + |
| intron-5UTR | ENST00000232014 | ENST00000505618 | BCL6 | chr3 | 187463198 | - | RHOH | chr4 | 40244334 | + |
| intron-5UTR | ENST00000232014 | ENST00000381799 | BCL6 | chr3 | 187463198 | - | RHOH | chr4 | 40244334 | + |
| intron-intron | ENST00000232014 | ENST00000514143 | BCL6 | chr3 | 187463198 | - | RHOH | chr4 | 40244334 | + |
| intron-5UTR | ENST00000450123 | ENST00000505618 | BCL6 | chr3 | 187463198 | - | RHOH | chr4 | 40244334 | + |
| intron-5UTR | ENST00000450123 | ENST00000381799 | BCL6 | chr3 | 187463198 | - | RHOH | chr4 | 40244334 | + |
| intron-intron | ENST00000450123 | ENST00000514143 | BCL6 | chr3 | 187463198 | - | RHOH | chr4 | 40244334 | + |
| 5UTR-5UTR | ENST00000496823 | ENST00000505618 | BCL6 | chr3 | 187463198 | - | RHOH | chr4 | 40244334 | + |
| 5UTR-5UTR | ENST00000496823 | ENST00000381799 | BCL6 | chr3 | 187463198 | - | RHOH | chr4 | 40244334 | + |
| 5UTR-intron | ENST00000496823 | ENST00000514143 | BCL6 | chr3 | 187463198 | - | RHOH | chr4 | 40244334 | + |
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FusionProtFeatures for BCL6_RHOH |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BCL6 | RHOH |
| Transcriptional repressor mainly required for germinalcenter (GC) formation and antibody affinity maturation which hasdifferent mechanisms of action specific to the lineage andbiological functions. Forms complexes with different corepressorsand histone deacetylases to repress the transcriptional expressionof different subsets of target genes. Represses its target genesby binding directly to the DNA sequence 5'-TTCCTAGAA-3' (BCL6-binding site) or indirectly by repressing the transcriptionalactivity of transcription factors. In GC B-cells, represses genesthat function in differentiation, inflammation, apoptosis and cellcycle control, also autoregulates its transcriptional expressionand up-regulates, indirectly, the expression of some genesimportant for GC reactions, such as AICDA, through the repressionof microRNAs expression, like miR155. An important function is toallow GC B-cells to proliferate very rapidly in response to T-celldependent antigens and tolerate the physiological DNA breaksrequired for immunglobulin class switch recombination and somatichypermutation without inducing a p53/TP53-dependent apoptoticresponse. In follicular helper CD4(+) T-cells (T(FH) cells),promotes the expression of T(FH)-related genes but inhibits thedifferentiation of T(H)1, T(H)2 and T(H)17 cells. Also requiredfor the establishment and maintenance of immunological memory forboth T- and B-cells. Suppresses macrophage proliferation throughcompetition with STAT5 for STAT-binding motifs binding on certaintarget genes, such as CCL2 and CCND2. In response to genotoxicstress, controls cell cycle arrest in GC B-cells in both p53/TP53-dependedent and -independent manners. Besides, also controlsneurogenesis through the alteration of the composition of NOTCH-dependent transcriptional complexes at selective NOTCH targets,such as HES5, including the recruitment of the deacetylase SIRT1and resulting in an epigenetic silencing leading to neuronaldifferentiation. {ECO:0000269|PubMed:10981963,ECO:0000269|PubMed:12402037, ECO:0000269|PubMed:12414651,ECO:0000269|PubMed:12504096, ECO:0000269|PubMed:15454082,ECO:0000269|PubMed:15577913, ECO:0000269|PubMed:16142238,ECO:0000269|PubMed:17828269, ECO:0000269|PubMed:18212045,ECO:0000269|PubMed:18280243, ECO:0000269|PubMed:22113614,ECO:0000269|PubMed:23166356, ECO:0000269|PubMed:23911289,ECO:0000269|PubMed:9649500}. | Negative regulator of hematopoietic progenitor cellproliferation, survival and migration. Critical regulator ofthymocyte development and T-cell antigen receptor (TCR) signalingby mediating recruitment and activation of ZAP70. Required forphosphorylation of CD3Z, membrane translocation of ZAP70 andsubsequent activation of the ZAP70-mediated pathways. Essentialfor efficient beta-selection and positive selection by promotingthe ZAP70-dependent phosphorylation of the LAT signalosome duringpre-TCR and TCR signaling. Crucial for thymocyte maturation duringDN3 to DN4 transition and during positive selection. Playscritical roles in mast cell function by facilitatingphosphorylation of SYK in Fc epsilon RI-mediated signaltransduction. Essential for the phosphorylation of LAT, LCP2,PLCG1 and PLCG2 and for Ca(2+) mobilization in mast cells (Bysimilarity). Binds GTP but lacks intrinsic GTPase activity and isresistant to Rho-specific GTPase-activating proteins. Inhibits theactivation of NF-kappa-B by TNF and IKKB and the activation ofCRK/p38 by TNF. Inhibits activities of RAC1, RHOA and CDC42.Negatively regulates leukotriene production in neutrophils.{ECO:0000250, ECO:0000269|PubMed:11809807,ECO:0000269|PubMed:19414807}. |
| 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 BCL6_RHOH |
| 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 BCL6_RHOH |
| 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 |
| BCL6 | HDAC5, HDAC4, HDAC7, BCOR, NCOR2, NCOR1, HDAC1, IRF4, SIN3A, JUN, JUND, JUNB, ZBTB7A, PML, ZBTB16, BACH2, SPI1, BCL6B, EP300, HDAC2, MTA3, MBD3, CHD3, CREBBP, EBF1, HDAC9, PPARGC1A, HNF1A, YY1, E2F3, BCL11A, ATF7, POU2F3, SMARCA4, HELZ2, KDM2A, KMT2B, TRAF3IP3, ZNF443, ZMYND8, SAE1, DDX6, ERCC5, PARP12, LSM1, OSBPL1A, MAPK8IP3, MED23, WNT16, TNFRSF8, ARNT2, LPAR2, EPHB6, NKRF, SMO, LPAR4, PRKD3, PIKFYVE, EIF2AK3, DROSHA, EHMT1, IDI2, TRIB3, SPTLC2, PCDH9, PANX3, CSMD1, ARHGAP35, PPAP2B, SENP7, EIF4ENIF1, CACNA1A, WNK4, DNAH9, KIF13B, HSF4, WDR35, UTP6, OLA1, FBXO11, CDK19, CDK8, MED6, MED17, FOXM1, PIN1, HBEGF, HSP90AA1, NACC1, BCL6, PATZ1, RUNX1T1, CTBP1, RAF1, CUL3, PELI1, AES, KIFC3, SIAH1, TRAF1, BLZF1, ZBTB7B, CUTC, LIMS3, TP53, TWIST1, CTNNB1, IL32, PRKCE, ZBTB17, USP7, HDAC3, CARKD | RHOH | LRIF1, UTP14A, ARHGDIA, ARHGDIB, ARHGDIG |
| - 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 BCL6_RHOH |
| 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 BCL6_RHOH |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BCL6 | C0024305 | Lymphoma, Non-Hodgkin | 1 | CTD_human |
| Hgene | BCL6 | C0079772 | T-Cell Lymphoma | 1 | CTD_human |
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