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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 |