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Fusion gene ID: 42814 |
FusionGeneSummary for ZFP36L1_SMG6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ZFP36L1_SMG6 | Fusion gene ID: 42814 | Hgene | Tgene | Gene symbol | ZFP36L1 | SMG6 | Gene ID | 677 | 23293 |
| Gene name | ZFP36 ring finger protein like 1 | SMG6, nonsense mediated mRNA decay factor | |
| Synonyms | BRF1|Berg36|ERF-1|ERF1|RNF162B|TIS11B|cMG1 | C17orf31|EST1A|SMG-6|hSMG5/7a | |
| Cytomap | 14q24.1 | 17p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mRNA decay activator protein ZFP36L1EGF-response factor 1TPA-induced sequence 11bZFP36-like 1butyrate response factor 1early response factor Berg36zinc finger protein 36, C3H type-like 1zinc finger protein 36, C3H1 type-like 1zinc finger protein, | telomerase-binding protein EST1AEST1 telomerase component homolog Aever shorter telomeres 1Asmg-6 homolog, nonsense mediated mRNA decay factortelomerase subunit EST1A | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q07352 | Q86US8 | |
| Ensembl transtripts involved in fusion gene | ENST00000555997, ENST00000439696, ENST00000336440, ENST00000408913, | ENST00000544865, ENST00000263073, ENST00000354901, ENST00000536871, ENST00000573166, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 8 X 6 X 5=240 |
| # samples | 3 | 8 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/240*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ZFP36L1 [Title/Abstract] AND SMG6 [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 | ZFP36L1 | GO:0000165 | MAPK cascade | 18326031|20166898 |
| Hgene | ZFP36L1 | GO:0009611 | response to wounding | 27182009 |
| Hgene | ZFP36L1 | GO:0010468 | regulation of gene expression | 20166898 |
| Hgene | ZFP36L1 | GO:0014065 | phosphatidylinositol 3-kinase signaling | 15538381 |
| Hgene | ZFP36L1 | GO:0031440 | regulation of mRNA 3'-end processing | 21832157 |
| Hgene | ZFP36L1 | GO:0032869 | cellular response to insulin stimulus | 15538381 |
| Hgene | ZFP36L1 | GO:0043488 | regulation of mRNA stability | 15467755|15538381|15687258|18326031|19179481|20702587|24700863|25014217|26542173 |
| Hgene | ZFP36L1 | GO:0045647 | negative regulation of erythrocyte differentiation | 20702587 |
| Hgene | ZFP36L1 | GO:0045657 | positive regulation of monocyte differentiation | 26542173 |
| Hgene | ZFP36L1 | GO:0061158 | 3'-UTR-mediated mRNA destabilization | 15467755|15538381|15687258|18326031|19179481|24700863|26542173 |
| Hgene | ZFP36L1 | GO:0070371 | ERK1 and ERK2 cascade | 25106868 |
| Hgene | ZFP36L1 | GO:0071320 | cellular response to cAMP | 19179481 |
| Hgene | ZFP36L1 | GO:0071356 | cellular response to tumor necrosis factor | 20166898 |
| Hgene | ZFP36L1 | GO:0071364 | cellular response to epidermal growth factor stimulus | 20166898 |
| Hgene | ZFP36L1 | GO:0071375 | cellular response to peptide hormone stimulus | 15467755|19179481 |
| Hgene | ZFP36L1 | GO:0071385 | cellular response to glucocorticoid stimulus | 20166898 |
| Hgene | ZFP36L1 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 20166898 |
| Tgene | SMG6 | GO:1904354 | negative regulation of telomere capping | 12676087 |
| 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 | DA746032 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
| * 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-3CDS | ENST00000555997 | ENST00000544865 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
| intron-3CDS | ENST00000555997 | ENST00000263073 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
| intron-3CDS | ENST00000555997 | ENST00000354901 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
| intron-3CDS | ENST00000555997 | ENST00000536871 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
| intron-5UTR | ENST00000555997 | ENST00000573166 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
| intron-3CDS | ENST00000439696 | ENST00000544865 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
| intron-3CDS | ENST00000439696 | ENST00000263073 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
| intron-3CDS | ENST00000439696 | ENST00000354901 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
| intron-3CDS | ENST00000439696 | ENST00000536871 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
| intron-5UTR | ENST00000439696 | ENST00000573166 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
| intron-3CDS | ENST00000336440 | ENST00000544865 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
| intron-3CDS | ENST00000336440 | ENST00000263073 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
| intron-3CDS | ENST00000336440 | ENST00000354901 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
| intron-3CDS | ENST00000336440 | ENST00000536871 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
| intron-5UTR | ENST00000336440 | ENST00000573166 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
| intron-3CDS | ENST00000408913 | ENST00000544865 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
| intron-3CDS | ENST00000408913 | ENST00000263073 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
| intron-3CDS | ENST00000408913 | ENST00000354901 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
| intron-3CDS | ENST00000408913 | ENST00000536871 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
| intron-5UTR | ENST00000408913 | ENST00000573166 | ZFP36L1 | chr14 | 69261956 | + | SMG6 | chr17 | 1972227 | - |
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FusionProtFeatures for ZFP36L1_SMG6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ZFP36L1 | SMG6 |
| Zinc-finger RNA-binding protein that destabilizesseveral cytoplasmic AU-rich element (ARE)-containing mRNAtranscripts by promoting their poly(A) tail removal ordeadenylation, and hence provide a mechanism for attenuatingprotein synthesis (PubMed:12198173, PubMed:15538381,PubMed:15467755, PubMed:17030608, PubMed:19179481,PubMed:20702587, PubMed:24700863, PubMed:25106868,PubMed:25014217, PubMed:26542173). Acts as a 3'-untranslatedregion (UTR) ARE mRNA-binding adapter protein to communicatesignaling events to the mRNA decay machinery (PubMed:15687258).Functions by recruiting the CCR4-NOT deadenylase complex andcomponents of the cytoplasmic RNA decay machinery to the boundARE-containing mRNAs, and hence promotes ARE-mediated mRNAdeadenylation and decay processes (PubMed:15687258,PubMed:18326031, PubMed:25106868). Induces also the degradation ofARE-containing mRNAs even in absence of poly(A) tail (Bysimilarity). Binds to 3'-UTR ARE of numerous mRNAs(PubMed:12198173, PubMed:15538381, PubMed:15467755,PubMed:17030608, PubMed:19179481, PubMed:20702587,PubMed:24700863, PubMed:25106868, PubMed:25014217,PubMed:26542173). Positively regulates early adipogenesis bypromoting ARE-mediated mRNA decay of immediate early genes (IEGs)(By similarity). Promotes ARE-mediated mRNA decay ofmineralocorticoid receptor NR3C2 mRNA in response to hypertonicstress (PubMed:24700863). Negatively regulateshematopoietic/erythroid cell differentiation by promoting ARE-mediated mRNA decay of the transcription factor STAT5B mRNA(PubMed:20702587). Positively regulates monocyte/macrophage celldifferentiation by promoting ARE-mediated mRNA decay of thecyclin-dependent kinase CDK6 mRNA (PubMed:26542173). Promotesdegradation of ARE-containing pluripotency-associated mRNAs inembryonic stem cells (ESCs), such as NANOG, through a fibroblastgrowth factor (FGF)-induced MAPK-dependent signaling pathway, andhence attenuates ESC self-renewal and positively regulatesmesendoderm differentiation (By similarity). May play a role inmediating pro-apoptotic effects in malignant B-cells by promotingARE-mediated mRNA decay of BCL2 mRNA (PubMed:25014217). Inassociation with ZFP36L2 maintains quiescence on developing Blymphocytes by promoting ARE-mediated decay of several mRNAsencoding cell cycle regulators that help B cells progress throughthe cell cycle, and hence ensuring accurate variable-diversity-joining (VDJ) recombination and functional immune cell formation(By similarity). Together with ZFP36L2 is also necessary forthymocyte development and prevention of T-cell acute lymphoblasticleukemia (T-ALL) transformation by promoting ARE-mediated mRNAdecay of the oncogenic transcription factor NOTCH1 mRNA (Bysimilarity). Participates in the delivery of target ARE-mRNAs toprocessing bodies (PBs) (PubMed:17369404). In addition to itscytosolic mRNA-decay function, plays a role in the regulation ofnuclear mRNA 3'-end processing; modulates mRNA 3'-end maturationefficiency of the DLL4 mRNA through binding with an ARE embeddedin a weak noncanonical polyadenylation (poly(A)) signal inendothelial cells (PubMed:21832157). Also involved in theregulation of stress granule (SG) and P-body (PB) formation andfusion (PubMed:15967811). Plays a role in vasculogenesis andendocardial development (By similarity). Plays a role in theregulation of keratinocyte proliferation, differentiation andapoptosis (PubMed:27182009). Plays a role in myoblast celldifferentiation (By similarity). {ECO:0000250|UniProtKB:P17431,ECO:0000250|UniProtKB:P23950, ECO:0000269|PubMed:12198173,ECO:0000269|PubMed:15467755, ECO:0000269|PubMed:15538381,ECO:0000269|PubMed:15687258, ECO:0000269|PubMed:15967811,ECO:0000269|PubMed:17030608, ECO:0000269|PubMed:17369404,ECO:0000269|PubMed:18326031, ECO:0000269|PubMed:19179481,ECO:0000269|PubMed:20702587, ECO:0000269|PubMed:21832157,ECO:0000269|PubMed:24700863, ECO:0000269|PubMed:25014217,ECO:0000269|PubMed:25106868, ECO:0000269|PubMed:26542173,ECO:0000269|PubMed:27182009}. | Component of the telomerase ribonucleoprotein (RNP)complex that is essential for the replication of chromosometermini. May have a general role in telomere regulation. Promotesin vitro the ability of TERT to elongate telomeres. Overexpressioninduces telomere uncapping, chromosomal end-to-end fusions(telomeric DNA persists at the fusion points) and did not perturbTRF2 telomeric localization. Binds to the single-stranded 5'-(GTGTGG)(4)GTGT-3' telomeric DNA, but not to a telomerase RNAtemplate component (TER). Plays a role in nonsense-mediated mRNA decay. Is thoughtto provide a link to the mRNA degradation machinery as it hasendonuclease activity required to initiate NMD, and to serve as anadapter for UPF1 to protein phosphatase 2A (PP2A), therebytriggering UPF1 dephosphorylation. Degrades single-stranded RNA(ssRNA), but not ssDNA or dsRNA. |
| 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 ZFP36L1_SMG6 |
| 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 ZFP36L1_SMG6 |
| 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 ZFP36L1_SMG6 |
| 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 ZFP36L1_SMG6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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