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Fusion Protein:SEL1L3-BHLHE41 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: SEL1L3-BHLHE41 | FusionPDB ID: 80202 | FusionGDB2.0 ID: 80202 | Hgene | Tgene | Gene symbol | SEL1L3 | BHLHE41 | Gene ID | 23231 | 79365 |
| Gene name | SEL1L family member 3 | basic helix-loop-helix family member e41 | |
| Synonyms | Sel-1L3 | BHLHB3|DEC2|FNSS1|SHARP1|hDEC2 | |
| Cytomap | 4p15.2 | 12p12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein sel-1 homolog 3sel-1 suppressor of lin-12-like 3suppressor of lin-12-like protein 3 | class E basic helix-loop-helix protein 41basic helix-loop-helix domain containing, class B, 3differentially expressed in chondrocytes protein 2enhancer-of-split and hairy-related protein 1 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | Q9C0J9 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000513364, ENST00000502949, ENST00000264868, ENST00000399878, | ENST00000242728, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 11 X 12 X 7=924 | 5 X 2 X 4=40 |
| # samples | 12 | 5 | |
| ** MAII score | log2(12/924*10)=-2.94485844580754 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/40*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: SEL1L3 [Title/Abstract] AND BHLHE41 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | SEL1L3(25836818)-BHLHE41(26277515), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | SEL1L3-BHLHE41 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. SEL1L3-BHLHE41 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. SEL1L3-BHLHE41 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF. SEL1L3-BHLHE41 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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 |
| Tgene | BHLHE41 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 14672706|15193144 |
| Fusion gene breakpoints across SEL1L3 (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 BHLHE41 (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 | OV | TCGA-25-2042 | SEL1L3 | chr4 | 25836818 | - | BHLHE41 | chr12 | 26277515 | - |
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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) |
| ENST00000399878 | SEL1L3 | chr4 | 25836818 | - | ENST00000242728 | BHLHE41 | chr12 | 26277515 | - | 4410 | 983 | 78 | 2369 | 763 |
| ENST00000264868 | SEL1L3 | chr4 | 25836818 | - | ENST00000242728 | BHLHE41 | chr12 | 26277515 | - | 4265 | 838 | 20 | 2224 | 734 |
| 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 |
| ENST00000399878 | ENST00000242728 | SEL1L3 | chr4 | 25836818 | - | BHLHE41 | chr12 | 26277515 | - | 0.001162506 | 0.99883753 |
| ENST00000264868 | ENST00000242728 | SEL1L3 | chr4 | 25836818 | - | BHLHE41 | chr12 | 26277515 | - | 0.000594849 | 0.99940515 |
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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 >80202_80202_1_SEL1L3-BHLHE41_SEL1L3_chr4_25836818_ENST00000264868_BHLHE41_chr12_26277515_ENST00000242728_length(amino acids)=734AA_BP=273 MGAGQLRGTTPGGTLALRPAGMAPRPKKQPDKNPLHGRELNVVPSLGRQTSLTTSVIPKAEQSVAYKDFIYFTVFEGNVRNVSEVSVEYL CSQPCVVNLEAVVSSEFRSSIPVYKKRWKNEKHLHTSRTQIVHVKFPSIMVYRDDYFIRHSISVSAVIVRAWITHKYSGRDWNVKWEENL LHAVAKNYTLLQTIPPFERPFKDHQVCLEWNMGYIWNLRANRIPQCPLENDVVALLGFPYASSGENTGIVKKFPRFRNRELEATRRQRMD YPVLDYSSLYMCKPKRSMKRDDTKDTYKLPHRLIEKKRRDRINECIAQLKDLLPEHLKLTTLGHLEKAVVLELTLKHLKALTALTEQQHQ KIIALQNGERSLKSPIQSDLDAFHSGFQTCAKEVLQYLSRFESWTPREPRCVQLINHLHAVATQFLPTPQLLTQQVPLSKGTGAPSAAGS AAAPCLERAGQKLEPLAYCVPVIQRTQPSAELAAENDTDTDSGYGGEAEARPDREKGKGAGASRVTIKQEPPGEDSPAPKRMKLDSRGGG SGGGPGGGAAAAAAALLGPDPAAAAALLRPDAALLSSLVAFGGGGGAPFPQPAAAAAPFCLPFCFLSPSAAAAYVQPFLDKSGLEKYLYP AAAAAPFPLLYPGIPAPAAAAAAAAAAAAAAAAFPCLSSVLSPPPEKAGAAAATLLPHEVAPLGAPHPQHPHGRTHLPFAGPREPGNPES -------------------------------------------------------------- >80202_80202_2_SEL1L3-BHLHE41_SEL1L3_chr4_25836818_ENST00000399878_BHLHE41_chr12_26277515_ENST00000242728_length(amino acids)=763AA_BP=302 MHQVTCSGPDPGGLAMQRRGAGLGWPRQQQQQPPPLAVGPRAAAMVPSGGVPQGLGGRSACALLLLCYLNVVPSLGRQTSLTTSVIPKAE QSVAYKDFIYFTVFEGNVRNVSEVSVEYLCSQPCVVNLEAVVSSEFRSSIPVYKKRWKNEKHLHTSRTQIVHVKFPSIMVYRDDYFIRHS ISVSAVIVRAWITHKYSGRDWNVKWEENLLHAVAKNYTLLQTIPPFERPFKDHQVCLEWNMGYIWNLRANRIPQCPLENDVVALLGFPYA SSGENTGIVKKFPRFRNRELEATRRQRMDYPVLDYSSLYMCKPKRSMKRDDTKDTYKLPHRLIEKKRRDRINECIAQLKDLLPEHLKLTT LGHLEKAVVLELTLKHLKALTALTEQQHQKIIALQNGERSLKSPIQSDLDAFHSGFQTCAKEVLQYLSRFESWTPREPRCVQLINHLHAV ATQFLPTPQLLTQQVPLSKGTGAPSAAGSAAAPCLERAGQKLEPLAYCVPVIQRTQPSAELAAENDTDTDSGYGGEAEARPDREKGKGAG ASRVTIKQEPPGEDSPAPKRMKLDSRGGGSGGGPGGGAAAAAAALLGPDPAAAAALLRPDAALLSSLVAFGGGGGAPFPQPAAAAAPFCL PFCFLSPSAAAAYVQPFLDKSGLEKYLYPAAAAAPFPLLYPGIPAPAAAAAAAAAAAAAAAAFPCLSSVLSPPPEKAGAAAATLLPHEVA -------------------------------------------------------------- |
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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/chr4:25836818/chr12:26277515) - 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 |
| . | BHLHE41 |
| FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes (PubMed:11278948, PubMed:14672706, PubMed:15193144, PubMed:15560782, PubMed:18411297, PubMed:19786558, PubMed:25083013). Acts as the negative limb of a novel autoregulatory feedback loop (DEC loop) which differs from the one formed by the PER and CRY transcriptional repressors (PER/CRY loop). Both these loops are interlocked as it represses the expression of PER1 and in turn is repressed by PER1/2 and CRY1/2. Represses the activity of the circadian transcriptional activator: CLOCK-ARNTL/BMAL1 heterodimer by competing for the binding to E-box elements (5'-CACGTG-3') found within the promoters of its target genes (PubMed:25083013). Negatively regulates its own expression and the expression of DBP and BHLHE41/DEC2. Acts as a corepressor of RXR and the RXR-LXR heterodimers and represses the ligand-induced RXRA/B/G, NR1H3/LXRA, NR1H4 and VDR transactivation activity. Inhibits HNF1A-mediated transactivation of CYP1A2, CYP2E1 AND CYP3A11 (By similarity). {ECO:0000250|UniProtKB:Q99PV5, ECO:0000269|PubMed:11278948, ECO:0000269|PubMed:14672706, ECO:0000269|PubMed:15193144, ECO:0000269|PubMed:15560782, ECO:0000269|PubMed:18411297, ECO:0000269|PubMed:19786558, ECO:0000269|PubMed:25083013}. |
| 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 | BHLHE41 | chr4:25836818 | chr12:26277515 | ENST00000242728 | 0 | 5 | 297_431 | 20.666666666666668 | 483.0 | Compositional bias | Note=Ala/Gly-rich | |
| Tgene | BHLHE41 | chr4:25836818 | chr12:26277515 | ENST00000242728 | 0 | 5 | 131_166 | 20.666666666666668 | 483.0 | Domain | Orange | |
| Tgene | BHLHE41 | chr4:25836818 | chr12:26277515 | ENST00000242728 | 0 | 5 | 44_99 | 20.666666666666668 | 483.0 | Domain | bHLH |
| - 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 | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000264868 | - | 3 | 24 | 575_609 | 251.66666666666666 | 1098.0 | Repeat | Note=Sel1-like 1 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000264868 | - | 3 | 24 | 611_647 | 251.66666666666666 | 1098.0 | Repeat | Note=Sel1-like 2 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000264868 | - | 3 | 24 | 694_730 | 251.66666666666666 | 1098.0 | Repeat | Note=Sel1-like 3 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000264868 | - | 3 | 24 | 732_767 | 251.66666666666666 | 1098.0 | Repeat | Note=Sel1-like 4 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000264868 | - | 3 | 24 | 768_800 | 251.66666666666666 | 1098.0 | Repeat | Note=Sel1-like 5 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000264868 | - | 3 | 24 | 801_839 | 251.66666666666666 | 1098.0 | Repeat | Note=Sel1-like 6 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000264868 | - | 3 | 24 | 840_877 | 251.66666666666666 | 1098.0 | Repeat | Note=Sel1-like 7 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000264868 | - | 3 | 24 | 952_988 | 251.66666666666666 | 1098.0 | Repeat | Note=Sel1-like 8 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000399878 | - | 3 | 24 | 575_609 | 286.6666666666667 | 1133.0 | Repeat | Note=Sel1-like 1 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000399878 | - | 3 | 24 | 611_647 | 286.6666666666667 | 1133.0 | Repeat | Note=Sel1-like 2 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000399878 | - | 3 | 24 | 694_730 | 286.6666666666667 | 1133.0 | Repeat | Note=Sel1-like 3 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000399878 | - | 3 | 24 | 732_767 | 286.6666666666667 | 1133.0 | Repeat | Note=Sel1-like 4 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000399878 | - | 3 | 24 | 768_800 | 286.6666666666667 | 1133.0 | Repeat | Note=Sel1-like 5 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000399878 | - | 3 | 24 | 801_839 | 286.6666666666667 | 1133.0 | Repeat | Note=Sel1-like 6 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000399878 | - | 3 | 24 | 840_877 | 286.6666666666667 | 1133.0 | Repeat | Note=Sel1-like 7 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000399878 | - | 3 | 24 | 952_988 | 286.6666666666667 | 1133.0 | Repeat | Note=Sel1-like 8 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000502949 | - | 3 | 24 | 575_609 | 133.66666666666666 | 980.0 | Repeat | Note=Sel1-like 1 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000502949 | - | 3 | 24 | 611_647 | 133.66666666666666 | 980.0 | Repeat | Note=Sel1-like 2 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000502949 | - | 3 | 24 | 694_730 | 133.66666666666666 | 980.0 | Repeat | Note=Sel1-like 3 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000502949 | - | 3 | 24 | 732_767 | 133.66666666666666 | 980.0 | Repeat | Note=Sel1-like 4 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000502949 | - | 3 | 24 | 768_800 | 133.66666666666666 | 980.0 | Repeat | Note=Sel1-like 5 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000502949 | - | 3 | 24 | 801_839 | 133.66666666666666 | 980.0 | Repeat | Note=Sel1-like 6 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000502949 | - | 3 | 24 | 840_877 | 133.66666666666666 | 980.0 | Repeat | Note=Sel1-like 7 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000502949 | - | 3 | 24 | 952_988 | 133.66666666666666 | 980.0 | Repeat | Note=Sel1-like 8 |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000264868 | - | 3 | 24 | 1057_1077 | 251.66666666666666 | 1098.0 | Transmembrane | Helical |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000399878 | - | 3 | 24 | 1057_1077 | 286.6666666666667 | 1133.0 | Transmembrane | Helical |
| Hgene | SEL1L3 | chr4:25836818 | chr12:26277515 | ENST00000502949 | - | 3 | 24 | 1057_1077 | 133.66666666666666 | 980.0 | 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 |
| SEL1L3 | |
| BHLHE41 |
| - 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 SEL1L3-BHLHE41 |
| 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 SEL1L3-BHLHE41 |
| 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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