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Fusion gene ID: 35472 |
FusionGeneSummary for SOX7_RAB1B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SOX7_RAB1B | Fusion gene ID: 35472 | Hgene | Tgene | Gene symbol | SOX7 | RAB1B | Gene ID | 83595 | 81876 |
| Gene name | SRY-box 7 | RAB1B, member RAS oncogene family | |
| Synonyms | - | - | |
| Cytomap | 8p23.1 | 11q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transcription factor SOX-7SRY (sex determining region Y)-box 7 | ras-related protein Rab-1Bsmall GTP-binding protein | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9BT81 | Q9H0U4 | |
| Ensembl transtripts involved in fusion gene | ENST00000554914, ENST00000553390, ENST00000304501, | ENST00000311481, ENST00000527397, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 4 X 4 X 2=32 |
| # samples | 3 | 4 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SOX7 [Title/Abstract] AND RAB1B [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 | SOX7 | GO:0001706 | endoderm formation | 18682240 |
| Hgene | SOX7 | GO:0008285 | negative regulation of cell proliferation | 19108950 |
| Hgene | SOX7 | GO:0043280 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 19108950 |
| Hgene | SOX7 | GO:0045892 | negative regulation of transcription, DNA-templated | 19108950 |
| Hgene | SOX7 | GO:0060828 | regulation of canonical Wnt signaling pathway | 19108950 |
| 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 | BF853306 | SOX7 | chr8 | 10583003 | + | RAB1B | chr11 | 66043688 | + |
| * 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 | ENST00000554914 | ENST00000311481 | SOX7 | chr8 | 10583003 | + | RAB1B | chr11 | 66043688 | + |
| intron-3CDS | ENST00000554914 | ENST00000527397 | SOX7 | chr8 | 10583003 | + | RAB1B | chr11 | 66043688 | + |
| intron-3CDS | ENST00000553390 | ENST00000311481 | SOX7 | chr8 | 10583003 | + | RAB1B | chr11 | 66043688 | + |
| intron-3CDS | ENST00000553390 | ENST00000527397 | SOX7 | chr8 | 10583003 | + | RAB1B | chr11 | 66043688 | + |
| intron-3CDS | ENST00000304501 | ENST00000311481 | SOX7 | chr8 | 10583003 | + | RAB1B | chr11 | 66043688 | + |
| intron-3CDS | ENST00000304501 | ENST00000527397 | SOX7 | chr8 | 10583003 | + | RAB1B | chr11 | 66043688 | + |
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FusionProtFeatures for SOX7_RAB1B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SOX7 | RAB1B |
| Binds to and activates the CDH5 promoter, hence plays arole in the transcriptional regulation of genes expressed in thehemogenic endothelium and blocks further differentiation intoblood precursors (By similarity). May be required for the survivalof both hematopoietic and endothelial precursors duringspecification (By similarity). Competes with GATA4 for binding andactivation of the FGF3 promoter (By similarity). RepressesWnt/beta-catenin-stimulated transcription, probably by targetingCTNNB1 to proteasomal degradation. Binds the DNA sequence 5'-AACAAT-3'. {ECO:0000250, ECO:0000269|PubMed:18819930}. | The small GTPases Rab are key regulators ofintracellular membrane trafficking, from the formation oftransport vesicles to their fusion with membranes. Rabs cyclebetween an inactive GDP-bound form and an active GTP-bound formthat is able to recruit to membranes different set of downstreameffectors directly responsible for vesicle formation, movement,tethering and fusion. RAB1B regulates vesicular transport betweenthe endoplasmic reticulum and successive Golgi compartments. Playsa role in the initial events of the autophagic vacuole developmentwhich take place at specialized regions of the endoplasmicreticulum. {ECO:0000269|PubMed:20545908,ECO:0000269|PubMed:9437002}. |
| 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 SOX7_RAB1B |
| 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 SOX7_RAB1B |
| 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 SOX7_RAB1B |
| 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 SOX7_RAB1B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | RAB1B | C0151744 | Myocardial Ischemia | 1 | CTD_human |
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