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Fusion gene ID: 42516 |
FusionGeneSummary for ZBTB46_MAFB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ZBTB46_MAFB | Fusion gene ID: 42516 | Hgene | Tgene | Gene symbol | ZBTB46 | MAFB | Gene ID | 140685 | 9935 |
| Gene name | zinc finger and BTB domain containing 46 | MAF bZIP transcription factor B | |
| Synonyms | BTBD4|BZEL|RINZF|ZNF340|dJ583P15.7|dJ583P15.8 | DURS3|KRML|MCTO | |
| Cytomap | 20q13.33 | 20q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | zinc finger and BTB domain-containing protein 46BTB (POZ) domain containing 4BTB-ZF protein expressed in effector lymphocytesBTB/POZ domain-containing protein 4zinc finger protein 340 | transcription factor MafBKreisler maf-related leucine zipper homologMAFB/Kreisler basic region/leucine zipper transcription factorv-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q86UZ6 | Q9Y5Q3 | |
| Ensembl transtripts involved in fusion gene | ENST00000245663, ENST00000395104, ENST00000302995, ENST00000480766, | ENST00000373313, ENST00000396967, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 1 X 1 X 1=1 |
| # samples | 1 | 1 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ZBTB46 [Title/Abstract] AND MAFB [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 |
| Tgene | MAFB | GO:0045647 | negative regulation of erythrocyte differentiation | 8620536 |
| 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 | CD699168 | ZBTB46 | chr20 | 62375756 | + | MAFB | chr20 | 39315012 | - |
| * 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-3UTR | ENST00000245663 | ENST00000373313 | ZBTB46 | chr20 | 62375756 | + | MAFB | chr20 | 39315012 | - |
| intron-intron | ENST00000245663 | ENST00000396967 | ZBTB46 | chr20 | 62375756 | + | MAFB | chr20 | 39315012 | - |
| intron-3UTR | ENST00000395104 | ENST00000373313 | ZBTB46 | chr20 | 62375756 | + | MAFB | chr20 | 39315012 | - |
| intron-intron | ENST00000395104 | ENST00000396967 | ZBTB46 | chr20 | 62375756 | + | MAFB | chr20 | 39315012 | - |
| intron-3UTR | ENST00000302995 | ENST00000373313 | ZBTB46 | chr20 | 62375756 | + | MAFB | chr20 | 39315012 | - |
| intron-intron | ENST00000302995 | ENST00000396967 | ZBTB46 | chr20 | 62375756 | + | MAFB | chr20 | 39315012 | - |
| intron-3UTR | ENST00000480766 | ENST00000373313 | ZBTB46 | chr20 | 62375756 | + | MAFB | chr20 | 39315012 | - |
| intron-intron | ENST00000480766 | ENST00000396967 | ZBTB46 | chr20 | 62375756 | + | MAFB | chr20 | 39315012 | - |
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FusionProtFeatures for ZBTB46_MAFB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ZBTB46 | MAFB |
| Function as a transcriptional repressor for PRDM1.{ECO:0000250}. | Acts as a transcriptional activator or repressor(PubMed:27181683). Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcriptionof erythroid-specific genes in myeloid cells. Required formonocytic, macrophage, osteoclast, podocyte and islet beta celldifferentiation. Involved in renal tubule survival and F4/80maturation. Activates the insulin and glucagon promoters. Togetherwith PAX6, transactivates weakly the glucagon gene promoterthrough the G1 element. SUMO modification controls itstranscriptional activity and ability to specify macrophage fate.Binds element G1 on the glucagon promoter (By similarity).Involved either as an oncogene or as a tumor suppressor, dependingon the cell context. {ECO:0000250|UniProtKB:P54841,ECO:0000269|PubMed:19143053, ECO:0000269|PubMed:27181683}. |
| 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 ZBTB46_MAFB |
| 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 ZBTB46_MAFB |
| 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 ZBTB46_MAFB |
| 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 ZBTB46_MAFB |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | MAFB | C0008924 | Cleft Lip | 1 | CTD_human |
| Tgene | MAFB | C2674705 | Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy | 1 | ORPHANET;UNIPROT |
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