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Fusion gene ID: 19053 |
FusionGeneSummary for KLHL7_BRAF |
Fusion gene summary |
| Fusion gene information | Fusion gene name: KLHL7_BRAF | Fusion gene ID: 19053 | Hgene | Tgene | Gene symbol | KLHL7 | BRAF | Gene ID | 55975 | 673 |
| Gene name | kelch like family member 7 | B-Raf proto-oncogene, serine/threonine kinase | |
| Synonyms | CISS3|KLHL6|SBBI26 | B-RAF1|B-raf|BRAF1|NS7|RAFB1 | |
| Cytomap | 7p15.3 | 7q34 | |
| Type of gene | protein-coding | protein-coding | |
| Description | kelch-like protein 7kelch-like 6kelch-like 7kelch/BTB | serine/threonine-protein kinase B-raf94 kDa B-raf proteinB-Raf proto-oncogene serine/threonine-protein kinase (p94)B-Raf serine/threonine-proteinmurine sarcoma viral (v-raf) oncogene homolog B1proto-oncogene B-Rafv-raf murine sarcoma viral oncogene | |
| Modification date | 20180522 | 20180527 | |
| UniProtAcc | Q8IXQ5 | P15056 | |
| Ensembl transtripts involved in fusion gene | ENST00000322231, ENST00000339077, ENST00000539124, ENST00000542558, ENST00000409689, ENST00000545443, ENST00000479288, ENST00000322275, ENST00000410047, ENST00000545771, | ENST00000288602, | |
| Fusion gene scores | * DoF score | 5 X 5 X 3=75 | 24 X 11 X 10=2640 |
| # samples | 5 | 35 | |
| ** MAII score | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(35/2640*10)=-2.91511110241349 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KLHL7 [Title/Abstract] AND BRAF [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 | KLHL7 | GO:0016567 | protein ubiquitination | 21828050 |
| Tgene | BRAF | GO:0006468 | protein phosphorylation | 17563371 |
| Tgene | BRAF | GO:0010828 | positive regulation of glucose transmembrane transport | 23010278 |
| Tgene | BRAF | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 19667065 |
| Tgene | BRAF | GO:0043066 | negative regulation of apoptotic process | 19667065 |
| Tgene | BRAF | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 22065586 |
| Tgene | BRAF | GO:0071277 | cellular response to calcium ion | 18567582 |
| Tgene | BRAF | GO:0090150 | establishment of protein localization to membrane | 23010278 |
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 |
| TCGA | LD | GBM | TCGA-28-5218-01A | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
| * 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 | ENST00000322231 | ENST00000288602 | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
| intron-3CDS | ENST00000339077 | ENST00000288602 | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
| intron-3CDS | ENST00000539124 | ENST00000288602 | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
| intron-3CDS | ENST00000542558 | ENST00000288602 | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
| intron-3CDS | ENST00000409689 | ENST00000288602 | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
| intron-3CDS | ENST00000545443 | ENST00000288602 | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
| intron-3CDS | ENST00000479288 | ENST00000288602 | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
| In-frame | ENST00000322275 | ENST00000288602 | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
| Frame-shift | ENST00000410047 | ENST00000288602 | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
| intron-3CDS | ENST00000545771 | ENST00000288602 | KLHL7 | chr7 | 23165418 | + | BRAF | chr7 | 140482957 | - |
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FusionProtFeatures for KLHL7_BRAF |
Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KLHL7 | BRAF |