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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 |
| Transcriptional activator. Binds specifically to the DNAsequence 5'-AACAAT-3'. Plays a key role in several developmentalprocesses, including neurogenesis and skeleton formation. | Serine protease with a variety of targets, includingextracellular matrix proteins such as fibronectin. HTRA1-generatedfibronectin fragments further induce synovial cells to up-regulateMMP1 and MMP3 production. May also degrade proteoglycans, such asaggrecan, decorin and fibromodulin. Through cleavage ofproteoglycans, may release soluble FGF-glycosaminoglycan complexesthat promote the range and intensity of FGF signals in theextracellular space. Regulates the availability of insulin-likegrowth factors (IGFs) by cleaving IGF-binding proteins. Inhibitssignaling mediated by TGF-beta family members. This activityrequires the integrity of the catalytic site, although it isunclear whether TGF-beta proteins are themselves degraded. Byacting on TGF-beta signaling, may regulate many physiologicalprocesses, including retinal angiogenesis and neuronal survivaland maturation during development. Intracellularly, degrades TSC2,leading to the activation of TSC2 downstream targets.{ECO:0000269|PubMed:16377621, ECO:0000269|PubMed:20671064,ECO:0000269|PubMed:9852107}. |
| 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 SOX6_HTRA1 |
| 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 SOX6_HTRA1 |
| 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 SOX6_HTRA1 |
| 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 SOX6_HTRA1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SOX6 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | HTRA1 | C1838577 | Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy | 1 | ORPHANET;UNIPROT |
| Tgene | HTRA1 | C4225211 | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 | 1 | UNIPROT |
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