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Fusion gene ID: 36971 |
FusionGeneSummary for SYT12_SH3GLB1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SYT12_SH3GLB1 | Fusion gene ID: 36971 | Hgene | Tgene | Gene symbol | SYT12 | SH3GLB1 | Gene ID | 91683 | 51100 |
| Gene name | synaptotagmin 12 | SH3 domain containing GRB2 like, endophilin B1 | |
| Synonyms | SYT11|sytXII | Bif-1|CGI-61|PPP1R70|dJ612B15.2 | |
| Cytomap | 11q13.2 | 1p22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | synaptotagmin-12synaptotagmin-XII | endophilin-B1Bax-interacting factor 1SH3 domain-containing GRB2-like protein B1SH3-containing protein SH3GLB1SH3-domain GRB2 like endophilin B1protein phosphatase 1, regulatory subunit 70testicular tissue protein Li 172 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q8IV01 | Q9Y371 | |
| Ensembl transtripts involved in fusion gene | ENST00000393946, ENST00000525457, ENST00000527043, ENST00000526281, | ENST00000370558, ENST00000535010, ENST00000482504, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 3 X 2=18 |
| # samples | 3 | 4 | |
| ** MAII score | log2(3/8*10)=1.90689059560852 | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SYT12 [Title/Abstract] AND SH3GLB1 [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 |
| Tgene | SH3GLB1 | GO:0032461 | positive regulation of protein oligomerization | 19074440 |
| Tgene | SH3GLB1 | GO:0051259 | protein complex oligomerization | 19805544 |
| 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 | BF995061 | SYT12 | chr11 | 66802087 | - | SH3GLB1 | chr1 | 87210438 | - | ||
| ChiTaRS3.1 | BF995206 | SYT12 | chr11 | 66802087 | - | SH3GLB1 | chr1 | 87210438 | - |
| * 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-3UTR | ENST00000393946 | ENST00000370558 | SYT12 | chr11 | 66802087 | - | SH3GLB1 | chr1 | 87210438 | - |
| intron-intron | ENST00000393946 | ENST00000535010 | SYT12 | chr11 | 66802087 | - | SH3GLB1 | chr1 | 87210438 | - |
| intron-intron | ENST00000393946 | ENST00000482504 | SYT12 | chr11 | 66802087 | - | SH3GLB1 | chr1 | 87210438 | - |
| intron-3UTR | ENST00000525457 | ENST00000370558 | SYT12 | chr11 | 66802087 | - | SH3GLB1 | chr1 | 87210438 | - |
| intron-intron | ENST00000525457 | ENST00000535010 | SYT12 | chr11 | 66802087 | - | SH3GLB1 | chr1 | 87210438 | - |
| intron-intron | ENST00000525457 | ENST00000482504 | SYT12 | chr11 | 66802087 | - | SH3GLB1 | chr1 | 87210438 | - |
| intron-3UTR | ENST00000527043 | ENST00000370558 | SYT12 | chr11 | 66802087 | - | SH3GLB1 | chr1 | 87210438 | - |
| intron-intron | ENST00000527043 | ENST00000535010 | SYT12 | chr11 | 66802087 | - | SH3GLB1 | chr1 | 87210438 | - |
| intron-intron | ENST00000527043 | ENST00000482504 | SYT12 | chr11 | 66802087 | - | SH3GLB1 | chr1 | 87210438 | - |
| intron-3UTR | ENST00000526281 | ENST00000370558 | SYT12 | chr11 | 66802087 | - | SH3GLB1 | chr1 | 87210438 | - |
| intron-intron | ENST00000526281 | ENST00000535010 | SYT12 | chr11 | 66802087 | - | SH3GLB1 | chr1 | 87210438 | - |
| intron-intron | ENST00000526281 | ENST00000482504 | SYT12 | chr11 | 66802087 | - | SH3GLB1 | chr1 | 87210438 | - |
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FusionProtFeatures for SYT12_SH3GLB1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SYT12 | SH3GLB1 |
| May be involved in Ca(2+)-dependent exocytosis ofsecretory vesicles through Ca(2+) and phospholipid binding to theC2 domain or may serve as Ca(2+) sensors in the process ofvesicular trafficking and exocytosis. {ECO:0000250}. | May be required for normal outer mitochondrial membranedynamics (PubMed:15452144). Required for coatomer-mediatedretrograde transport in certain cells (By similarity). May recruitother proteins to membranes with high curvature. May promotemembrane fusion (PubMed:11604418). Involved in activation ofcaspase-dependent apoptosis by promoting BAX/BAK1 activation(PubMed:16227588). Isoform 1 acts proapoptotic in fibroblasts (Bysimilarity). Involved in caspase-independent apoptosis duringnutrition starvation and involved in the regulation of autophagy.Activates lipid kinase activity of PIK3C3 during autophagyprobably by associating with the PI3K complex II (PI3KC3-C2)(PubMed:17891140). Associated with PI3KC3-C2 during autophagy mayregulate the trafficking of ATG9A from the Golgi complex to theperipheral cytoplasm for the formation of autophagosomes byinducing Golgi membrane tubulation and fragmentation(PubMed:21068542). Involved in regulation of degradative endocytictrafficking and cytokinesis, probably in the context of PI3KC3-C2(PubMed:20643123). Isoform 2 acts antiapoptotic in neuronal cells;involved in maintenance of mitochondrial morphology and promotesneuronal viability (By similarity). {ECO:0000250|UniProtKB:Q9JK48,ECO:0000269|PubMed:11604418, ECO:0000269|PubMed:15452144,ECO:0000269|PubMed:17891140, ECO:0000269|PubMed:20643123,ECO:0000269|PubMed:21068542}. |
| 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 SYT12_SH3GLB1 |
| 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 SYT12_SH3GLB1 |
| 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 SYT12_SH3GLB1 |
| 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 SYT12_SH3GLB1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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