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Fusion Protein:ELL-SMIM7 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: ELL-SMIM7 | FusionPDB ID: 26232 | FusionGDB2.0 ID: 26232 | Hgene | Tgene | Gene symbol | ELL | SMIM7 | Gene ID | 8178 | 79086 |
| Gene name | elongation factor for RNA polymerase II | small integral membrane protein 7 | |
| Synonyms | C19orf17|ELL1|MEN|PPP1R68 | C19orf42 | |
| Cytomap | 19p13.11 | 19p13.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | RNA polymerase II elongation factor ELLELL gene (11-19 lysine-rich leukemia gene)ELL/KMT2A fusionELL/KMT2A fusion proteinKMT2A/ELL fusionKMT2A/ELL fusion proteineleven-nineteen lysine-rich leukemia proteinelongation factor RNA polymerase IIprotein | small integral membrane protein 7UPF0608 protein C19orf42 | |
| Modification date | 20200319 | 20200313 | |
| UniProtAcc | O00472 | Q9BQ49 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000262809, ENST00000596124, | ENST00000358726, ENST00000397349, ENST00000597711, ENST00000487416, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 15 X 12 X 11=1980 | 9 X 10 X 4=360 |
| # samples | 21 | 8 | |
| ** MAII score | log2(21/1980*10)=-3.23703919730085 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/360*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: ELL [Title/Abstract] AND SMIM7 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ELL(18632731)-SMIM7(16758072), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | ELL-SMIM7 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ELL-SMIM7 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ELL-SMIM7 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. ELL-SMIM7 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. | ||
| * 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 | ELL | GO:0010923 | negative regulation of phosphatase activity | 19389623 |
| Fusion gene breakpoints across ELL (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across SMIM7 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | BRCA | TCGA-A2-A04U-01A | ELL | chr19 | 18632730 | - | SMIM7 | chr19 | 16758071 | - |
| ChimerDB4 | BRCA | TCGA-A2-A04U-01A | ELL | chr19 | 18632730 | - | SMIM7 | chr19 | 16764935 | - |
| ChimerDB4 | BRCA | TCGA-A2-A04U-01A | ELL | chr19 | 18632731 | - | SMIM7 | chr19 | 16758072 | - |
| ChimerDB4 | BRCA | TCGA-A2-A04U-01A | ELL | chr19 | 18632731 | - | SMIM7 | chr19 | 16764936 | - |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000262809 | ELL | chr19 | 18632731 | - | ENST00000487416 | SMIM7 | chr19 | 16758072 | - | 2724 | 207 | 1363 | 1028 | 111 |
| ENST00000262809 | ELL | chr19 | 18632731 | - | ENST00000597711 | SMIM7 | chr19 | 16758072 | - | 1127 | 207 | 408 | 160 | 82 |
| ENST00000262809 | ELL | chr19 | 18632730 | - | ENST00000487416 | SMIM7 | chr19 | 16758071 | - | 2724 | 207 | 1363 | 1028 | 111 |
| ENST00000262809 | ELL | chr19 | 18632730 | - | ENST00000597711 | SMIM7 | chr19 | 16758071 | - | 1127 | 207 | 408 | 160 | 82 |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000262809 | ENST00000487416 | ELL | chr19 | 18632731 | - | SMIM7 | chr19 | 16758072 | - | 0.28916904 | 0.710831 |
| ENST00000262809 | ENST00000597711 | ELL | chr19 | 18632731 | - | SMIM7 | chr19 | 16758072 | - | 0.28361878 | 0.71638125 |
| ENST00000262809 | ENST00000487416 | ELL | chr19 | 18632730 | - | SMIM7 | chr19 | 16758071 | - | 0.28916904 | 0.710831 |
| ENST00000262809 | ENST00000597711 | ELL | chr19 | 18632730 | - | SMIM7 | chr19 | 16758071 | - | 0.28361878 | 0.71638125 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >26232_26232_1_ELL-SMIM7_ELL_chr19_18632730_ENST00000262809_SMIM7_chr19_16758071_ENST00000487416_length(amino acids)=111AA_BP= MTSWLKKKKKYKQKVLFRNEVYFQGYSVLKACIFTFFPSSRFTSKSGFQKPPTFRLILIGINKQTKKPDNKKLNKQITQLWDSAPTPGVS -------------------------------------------------------------- >26232_26232_2_ELL-SMIM7_ELL_chr19_18632730_ENST00000262809_SMIM7_chr19_16758071_ENST00000597711_length(amino acids)=82AA_BP=1 -------------------------------------------------------------- >26232_26232_3_ELL-SMIM7_ELL_chr19_18632731_ENST00000262809_SMIM7_chr19_16758072_ENST00000487416_length(amino acids)=111AA_BP= MTSWLKKKKKYKQKVLFRNEVYFQGYSVLKACIFTFFPSSRFTSKSGFQKPPTFRLILIGINKQTKKPDNKKLNKQITQLWDSAPTPGVS -------------------------------------------------------------- >26232_26232_4_ELL-SMIM7_ELL_chr19_18632731_ENST00000262809_SMIM7_chr19_16758072_ENST00000597711_length(amino acids)=82AA_BP=1 -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:18632731/chr19:16758072) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ELL | SMIM7 |
| FUNCTION: Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968). Plays a role in immunoglobulin secretion in plasma cells: directs efficient alternative mRNA processing, influencing both proximal poly(A) site choice and exon skipping, as well as immunoglobulin heavy chain (IgH) alternative processing. Probably acts by regulating histone modifications accompanying transition from membrane-specific to secretory IgH mRNA expression. {ECO:0000269|PubMed:20159561, ECO:0000269|PubMed:20471948, ECO:0000269|PubMed:22195968, ECO:0000269|PubMed:23251033}. |
| 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. |
| - 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 |
| Tgene | SMIM7 | chr19:18632730 | chr19:16758071 | ENST00000487416 | 3 | 5 | 75_75 | 70.66666666666667 | 76.0 | Topological domain | Cytoplasmic | |
| Tgene | SMIM7 | chr19:18632731 | chr19:16758072 | ENST00000487416 | 3 | 5 | 75_75 | 70.66666666666667 | 76.0 | Topological domain | Cytoplasmic |
| - 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 |
| Hgene | ELL | chr19:18632730 | chr19:16758071 | ENST00000262809 | - | 1 | 12 | 445_459 | 45.0 | 622.0 | Motif | Nuclear localization signal |
| Hgene | ELL | chr19:18632731 | chr19:16758072 | ENST00000262809 | - | 1 | 12 | 445_459 | 45.0 | 622.0 | Motif | Nuclear localization signal |
| Tgene | SMIM7 | chr19:18632730 | chr19:16758071 | ENST00000487416 | 3 | 5 | 18_53 | 70.66666666666667 | 76.0 | Topological domain | Extracellular | |
| Tgene | SMIM7 | chr19:18632731 | chr19:16758072 | ENST00000487416 | 3 | 5 | 18_53 | 70.66666666666667 | 76.0 | Topological domain | Extracellular | |
| Tgene | SMIM7 | chr19:18632730 | chr19:16758071 | ENST00000487416 | 3 | 5 | 54_74 | 70.66666666666667 | 76.0 | Transmembrane | Helical | |
| Tgene | SMIM7 | chr19:18632731 | chr19:16758072 | ENST00000487416 | 3 | 5 | 54_74 | 70.66666666666667 | 76.0 | Transmembrane | Helical |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| ELL |  |
| SMIM7 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to ELL-SMIM7 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to ELL-SMIM7 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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