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Fusion gene ID: 35468 |
FusionGeneSummary for SOX6_HTRA1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SOX6_HTRA1 | Fusion gene ID: 35468 | Hgene | Tgene | Gene symbol | SOX6 | HTRA1 | Gene ID | 55553 | 5654 |
| Gene name | SRY-box 6 | HtrA serine peptidase 1 | |
| Synonyms | HSSOX6|SOXD | ARMD7|CADASIL2|CARASIL|HtrA|L56|ORF480|PRSS11 | |
| Cytomap | 11p15.2 | 10q26.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor SOX-6SRY (sex determining region Y)-box 6SRY-box containing gene 6 | serine protease HTRA1IGFBP5-proteasehigh-temperature requirement A serine peptidase 1protease, serine, 11 (IGF binding) | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | P35712 | Q92743 | |
| Ensembl transtripts involved in fusion gene | ENST00000316399, ENST00000396356, ENST00000352083, ENST00000528252, ENST00000527619, ENST00000528429, ENST00000533658, | ENST00000368984, | |
| Fusion gene scores | * DoF score | 10 X 9 X 6=540 | 3 X 3 X 2=18 |
| # samples | 13 | 3 | |
| ** MAII score | log2(13/540*10)=-2.05444778402238 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SOX6 [Title/Abstract] AND HTRA1 [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 | SOX6 | GO:0032332 | positive regulation of chondrocyte differentiation | 21401405 |
| Hgene | SOX6 | GO:0061036 | positive regulation of cartilage development | 21401405 |
| Hgene | SOX6 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 21401405 |
| Hgene | SOX6 | GO:2000741 | positive regulation of mesenchymal stem cell differentiation | 21401405 |
| 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 | BF380013 | SOX6 | chr11 | 16002281 | - | HTRA1 | chr10 | 124249313 | + |
| * 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-intron | ENST00000316399 | ENST00000368984 | SOX6 | chr11 | 16002281 | - | HTRA1 | chr10 | 124249313 | + |
| intron-intron | ENST00000396356 | ENST00000368984 | SOX6 | chr11 | 16002281 | - | HTRA1 | chr10 | 124249313 | + |
| intron-intron | ENST00000352083 | ENST00000368984 | SOX6 | chr11 | 16002281 | - | HTRA1 | chr10 | 124249313 | + |
| intron-intron | ENST00000528252 | ENST00000368984 | SOX6 | chr11 | 16002281 | - | HTRA1 | chr10 | 124249313 | + |
| intron-intron | ENST00000527619 | ENST00000368984 | SOX6 | chr11 | 16002281 | - | HTRA1 | chr10 | 124249313 | + |
| intron-intron | ENST00000528429 | ENST00000368984 | SOX6 | chr11 | 16002281 | - | HTRA1 | chr10 | 124249313 | + |
| intron-intron | ENST00000533658 | ENST00000368984 | SOX6 | chr11 | 16002281 | - | HTRA1 | chr10 | 124249313 | + |
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FusionProtFeatures for SOX6_HTRA1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SOX6 | HTRA1 |