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Fusion gene ID: 4143 |
FusionGeneSummary for BHLHE40_FBXL17 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BHLHE40_FBXL17 | Fusion gene ID: 4143 | Hgene | Tgene | Gene symbol | BHLHE40 | FBXL17 | Gene ID | 8553 | 64839 |
| Gene name | basic helix-loop-helix family member e40 | F-box and leucine rich repeat protein 17 | |
| Synonyms | BHLHB2|Clast5|DEC1|HLHB2|SHARP-2|SHARP2|STRA13|Stra14 | FBXO13|Fbl17|Fbx13 | |
| Cytomap | 3p26.1 | 5q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | class E basic helix-loop-helix protein 40basic helix-loop-helix domain containing, class B, 2class B basic helix-loop-helix protein 2differentially expressed in chondrocytes 1differentially expressed in chondrocytes protein 1differentiated embryo cho | F-box/LRR-repeat protein 17F-box only protein 13 | |
| Modification date | 20180524 | 20180523 | |
| UniProtAcc | O14503 | Q9UF56 | |
| Ensembl transtripts involved in fusion gene | ENST00000256495, | ENST00000359660, ENST00000542267, ENST00000496714, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 6 X 6 X 4=144 |
| # samples | 2 | 6 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(6/144*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: BHLHE40 [Title/Abstract] AND FBXL17 [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 | BHLHE40 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12397359|12624110|14672706|15193144 |
| Hgene | BHLHE40 | GO:0032922 | circadian regulation of gene expression | 18411297 |
| Hgene | BHLHE40 | GO:0043433 | negative regulation of DNA binding transcription factor activity | 18411297 |
| Hgene | BHLHE40 | GO:0045892 | negative regulation of transcription, DNA-templated | 12397359 |
| 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 | M78300 | BHLHE40 | chr3 | 5026573 | - | FBXL17 | chr5 | 107488453 | - |
| * 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 |
| 3UTR-intron | ENST00000256495 | ENST00000359660 | BHLHE40 | chr3 | 5026573 | - | FBXL17 | chr5 | 107488453 | - |
| 3UTR-intron | ENST00000256495 | ENST00000542267 | BHLHE40 | chr3 | 5026573 | - | FBXL17 | chr5 | 107488453 | - |
| 3UTR-intron | ENST00000256495 | ENST00000496714 | BHLHE40 | chr3 | 5026573 | - | FBXL17 | chr5 | 107488453 | - |
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FusionProtFeatures for BHLHE40_FBXL17 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BHLHE40 | FBXL17 |
| Transcriptional repressor involved in the regulation ofthe circadian rhythm by negatively regulating the activity of theclock genes and clock-controlled genes. Acts as the negative limbof a novel autoregulatory feedback loop (DEC loop) which differsfrom the one formed by the PER and CRY transcriptional repressors(PER/CRY loop). Both these loops are interlocked as it repressesthe expression of PER1/2 and in turn is repressed by PER1/2 andCRY1/2. Represses the activity of the circadian transcriptionalactivator: CLOCK-ARNTL/BMAL1|ARNTL2/BMAL2 heterodimer by competingfor the binding to E-box elements (5'-CACGTG-3') found within thepromoters of its target genes. Negatively regulates its ownexpression and the expression of DBP and BHLHE41/DEC2. Acts as acorepressor of RXR and the RXR-LXR heterodimers and represses theligand-induced RXRA and NR1H3/LXRA transactivation activity. Maybe involved in the regulation of chondrocyte differentiation viathe cAMP pathway. {ECO:0000269|PubMed:12397359,ECO:0000269|PubMed:14672706, ECO:0000269|PubMed:15193144,ECO:0000269|PubMed:15560782, ECO:0000269|PubMed:18411297,ECO:0000269|PubMed:19786558}. | Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. {ECO:0000250}. |
| 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 BHLHE40_FBXL17 |
| 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 BHLHE40_FBXL17 |
| 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 BHLHE40_FBXL17 |
| 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 BHLHE40_FBXL17 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BHLHE40 | C0005586 | Bipolar Disorder | 3 | CTD_human;PSYGENET |
| Hgene | BHLHE40 | C0017636 | Glioblastoma | 1 | CTD_human |
| Hgene | BHLHE40 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | BHLHE40 | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| Hgene | BHLHE40 | C0877792 | Sleep Disorders, Circadian Rhythm | 1 | CTD_human |
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