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Fusion gene ID: 35412 |
FusionGeneSummary for SORL1_SC5D |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SORL1_SC5D | Fusion gene ID: 35412 | Hgene | Tgene | Gene symbol | SORL1 | SC5D | Gene ID | 6653 | 6309 |
| Gene name | sortilin related receptor 1 | sterol-C5-desaturase | |
| Synonyms | C11orf32|LR11|LRP9|SORLA|SorLA-1|gp250 | ERG3|S5DES|SC5DL | |
| Cytomap | 11q24.1 | 11q23.3-q24.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | sortilin-related receptorLDLR relative with 11 ligand-binding repeatslow-density lipoprotein receptor relative with 11 ligand-binding repeatsmosaic protein LR11sortilin-related receptor, L(DLR class) A repeats containingsorting protein-related recept | lathosterol oxidase3beta-hydroxysteroid-delta5-desaturaseC-5 sterol desaturasedelta(7)-sterol 5-desaturasedelta(7)-sterol C5(6)-desaturasefungal ERG3, delta-5-desaturase-likelathosterol 5-desaturaselathosterol dehydrogenasesterol-C5-desaturase (ER | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | Q92673 | O75845 | |
| Ensembl transtripts involved in fusion gene | ENST00000260197, ENST00000532451, ENST00000525532, ENST00000532694, ENST00000534286, ENST00000527934, | ENST00000264027, ENST00000534230, ENST00000392789, ENST00000528991, | |
| Fusion gene scores | * DoF score | 13 X 10 X 7=910 | 3 X 3 X 3=27 |
| # samples | 14 | 3 | |
| ** MAII score | log2(14/910*10)=-2.70043971814109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SORL1 [Title/Abstract] AND SC5D [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 | SORL1 | GO:0006605 | protein targeting | 16407538 |
| Hgene | SORL1 | GO:0006622 | protein targeting to lysosome | 24523320 |
| Hgene | SORL1 | GO:0006892 | post-Golgi vesicle-mediated transport | 17855360 |
| Hgene | SORL1 | GO:0014910 | regulation of smooth muscle cell migration | 14764453 |
| Hgene | SORL1 | GO:0032091 | negative regulation of protein binding | 16407538 |
| Hgene | SORL1 | GO:0034067 | protein localization to Golgi apparatus | 17855360 |
| Hgene | SORL1 | GO:0045053 | protein retention in Golgi apparatus | 17855360 |
| Hgene | SORL1 | GO:0045732 | positive regulation of protein catabolic process | 24523320 |
| Hgene | SORL1 | GO:0051604 | protein maturation | 17855360 |
| Hgene | SORL1 | GO:1902430 | negative regulation of amyloid-beta formation | 16407538|22621900 |
| Hgene | SORL1 | GO:1902960 | negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process | 16407538 |
| 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 | OV | TCGA-24-1431-01A | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| * 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 |
| In-frame | ENST00000260197 | ENST00000264027 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| In-frame | ENST00000260197 | ENST00000534230 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| Frame-shift | ENST00000260197 | ENST00000392789 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| 5CDS-3UTR | ENST00000260197 | ENST00000528991 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| 3UTR-3CDS | ENST00000532451 | ENST00000264027 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| 3UTR-3CDS | ENST00000532451 | ENST00000534230 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| 3UTR-3CDS | ENST00000532451 | ENST00000392789 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| 3UTR-3UTR | ENST00000532451 | ENST00000528991 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| intron-3CDS | ENST00000525532 | ENST00000264027 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| intron-3CDS | ENST00000525532 | ENST00000534230 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| intron-3CDS | ENST00000525532 | ENST00000392789 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| intron-3UTR | ENST00000525532 | ENST00000528991 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| intron-3CDS | ENST00000532694 | ENST00000264027 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| intron-3CDS | ENST00000532694 | ENST00000534230 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| intron-3CDS | ENST00000532694 | ENST00000392789 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| intron-3UTR | ENST00000532694 | ENST00000528991 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| intron-3CDS | ENST00000534286 | ENST00000264027 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| intron-3CDS | ENST00000534286 | ENST00000534230 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| intron-3CDS | ENST00000534286 | ENST00000392789 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| intron-3UTR | ENST00000534286 | ENST00000528991 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| intron-3CDS | ENST00000527934 | ENST00000264027 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| intron-3CDS | ENST00000527934 | ENST00000534230 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| intron-3CDS | ENST00000527934 | ENST00000392789 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
| intron-3UTR | ENST00000527934 | ENST00000528991 | SORL1 | chr11 | 121393698 | + | SC5D | chr11 | 121177766 | + |
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FusionProtFeatures for SORL1_SC5D |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SORL1 | SC5D |