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Fusion gene ID: 36992 |
FusionGeneSummary for SYT7_PLA2G6 |
Fusion gene summary |
Fusion gene information | Fusion gene name: SYT7_PLA2G6 | Fusion gene ID: 36992 | Hgene | Tgene | Gene symbol | SYT7 | PLA2G6 | Gene ID | 9066 | 8398 |
Gene name | synaptotagmin 7 | phospholipase A2 group VI | |
Synonyms | IPCA-7|IPCA7|PCANAP7|SYT-VII|SYTVII | CaI-PLA2|GVI|INAD1|IPLA2-VIA|NBIA2|NBIA2A|NBIA2B|PARK14|PLA2|PNPLA9|iPLA2|iPLA2beta | |
Cytomap | 11q12.2 | 22q13.1 | |
Type of gene | protein-coding | protein-coding | |
Description | synaptotagmin-7prostate cancer-associated protein 7synaptotagmin VII | 85/88 kDa calcium-independent phospholipase A285 kDa calcium-independent phospholipase A2GVI PLA2iPLA2-betaintracellular membrane-associated calcium-independent phospholipase A2 betaneurodegeneration with brain iron accumulation 2patatin-like phosph | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | O43581 | O60733 | |
Ensembl transtripts involved in fusion gene | ENST00000263846, ENST00000540677, ENST00000539008, ENST00000542836, ENST00000542670, ENST00000535826, ENST00000540831, | ENST00000332509, ENST00000335539, ENST00000402064, ENST00000490473, ENST00000436218, ENST00000447598, ENST00000435484, ENST00000417303, | |
Fusion gene scores | * DoF score | 7 X 7 X 5=245 | 7 X 7 X 7=343 |
# samples | 7 | 8 | |
** MAII score | log2(7/245*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/343*10)=-2.10013667128545 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SYT7 [Title/Abstract] AND PLA2G6 [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 | PLA2G6 | GO:0019731 | antibacterial humoral response | 18714013 |
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 | BF871762 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
* 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 | ENST00000263846 | ENST00000332509 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000263846 | ENST00000335539 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000263846 | ENST00000402064 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000263846 | ENST00000490473 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000263846 | ENST00000436218 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000263846 | ENST00000447598 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000263846 | ENST00000435484 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000263846 | ENST00000417303 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000540677 | ENST00000332509 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000540677 | ENST00000335539 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000540677 | ENST00000402064 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000540677 | ENST00000490473 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000540677 | ENST00000436218 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000540677 | ENST00000447598 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000540677 | ENST00000435484 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000540677 | ENST00000417303 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000539008 | ENST00000332509 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000539008 | ENST00000335539 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000539008 | ENST00000402064 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000539008 | ENST00000490473 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000539008 | ENST00000436218 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000539008 | ENST00000447598 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000539008 | ENST00000435484 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000539008 | ENST00000417303 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000542836 | ENST00000332509 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000542836 | ENST00000335539 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000542836 | ENST00000402064 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000542836 | ENST00000490473 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000542836 | ENST00000436218 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000542836 | ENST00000447598 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000542836 | ENST00000435484 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000542836 | ENST00000417303 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000542670 | ENST00000332509 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000542670 | ENST00000335539 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000542670 | ENST00000402064 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000542670 | ENST00000490473 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000542670 | ENST00000436218 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000542670 | ENST00000447598 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000542670 | ENST00000435484 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000542670 | ENST00000417303 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000535826 | ENST00000332509 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000535826 | ENST00000335539 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000535826 | ENST00000402064 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000535826 | ENST00000490473 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000535826 | ENST00000436218 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000535826 | ENST00000447598 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000535826 | ENST00000435484 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000535826 | ENST00000417303 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000540831 | ENST00000332509 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000540831 | ENST00000335539 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000540831 | ENST00000402064 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000540831 | ENST00000490473 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000540831 | ENST00000436218 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000540831 | ENST00000447598 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000540831 | ENST00000435484 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
intron-intron | ENST00000540831 | ENST00000417303 | SYT7 | chr11 | 61300411 | + | PLA2G6 | chr22 | 38522333 | - |
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FusionProtFeatures for SYT7_PLA2G6 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
SYT7 | PLA2G6 |
Ca(2+) sensor involved in Ca(2+)-dependent exocytosis ofsecretory and synaptic vesicles through Ca(2+) and phospholipidbinding to the C2 domain (By similarity). Ca(2+) induces bindingof the C2-domains to phospholipid membranes and to assembledSNARE-complexes; both actions contribute to triggering exocytosis(By similarity). SYT7 binds Ca(2+) with high affinity and slowkinetics compared to other synaptotagmins (By similarity).Involved in Ca(2+)-triggered lysosomal exocytosis, a majorcomponent of the plasma membrane repair (PubMed:11342594). Ca(2+)-regulated delivery of lysosomal membranes to the cell surface isalso involved in the phagocytic uptake of particles by macrophages(By similarity). Ca(2+)-triggered lysosomal exocytosis also playsa role in bone remodeling by regulating secretory pathways inosteoclasts and osteoblasts (By similarity). In case of infection,involved in participates cell invasion by Trypanosoma cruzi viaCa(2+)-triggered lysosomal exocytosis (PubMed:11342594,PubMed:15811535). Involved in cholesterol transport from lysosometo peroxisome by promoting membrane contacts between lysosomes andperoxisomes: probably acts by promoting vesicle fusion by bindingphosphatidylinositol-4,5-bisphosphate on peroxisomal membranes (Bysimilarity). Acts as a key mediator of synaptic facilitation, aprocess also named short-term synaptic potentiation: synapticfacilitation takes place at synapses with a low initial releaseprobability and is caused by influx of Ca(2+) into the axonterminal after spike generation, increasing the releaseprobability of neurotransmitters (By similarity). Probablymediates synaptic facilitation by directly increasing theprobability of release (By similarity). May also contribute tosynaptic facilitation by regulating synaptic vesiclereplenishment, a process required to ensure that synaptic vesiclesare ready for the arrival of the next action potential: SYT7 isrequired for synaptic vesicle replenishment by acting as a sensorfor Ca(2+) and by forming a complex with calmodulin (Bysimilarity). Also acts as a regulator of Ca(2+)-dependent insulinand glucagon secretion in beta-cells (By similarity). Triggersexocytosis by promoting fusion pore opening and fusion poreexpansion in chromaffin cells (By similarity). Also regulates thesecretion of some non-synaptic secretory granules of specializedcells (By similarity). {ECO:0000250|UniProtKB:Q62747,ECO:0000250|UniProtKB:Q9R0N7, ECO:0000269|PubMed:11342594,ECO:0000269|PubMed:15811535}. | Catalyzes the release of fatty acids from phospholipids.It has been implicated in normal phospholipid remodeling, nitricoxide-induced or vasopressin-induced arachidonic acid release andin leukotriene and prostaglandin production. May participate infas mediated apoptosis and in regulating transmembrane ion flux inglucose-stimulated B-cells. Has a role in cardiolipin (CL)deacylation. Required for both speed and directionality ofmonocyte MCP1/CCL2-induced chemotaxis through regulation of F-actin polymerization at the pseudopods. Isoform ankyrin-iPLA2-1 and isoform ankyrin-iPLA2-2,which lack the catalytic domain, are probably involved in thenegative regulation of iPLA2 activity. |
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 SYT7_PLA2G6 |
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 SYT7_PLA2G6 |
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 SYT7_PLA2G6 |
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 |
Tgene | PLA2G6 | O60733 | DB01103 | Quinacrine | 85/88 kDa calcium-independent phospholipase A2 | small molecule | approved|investigational |
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RelatedDiseases for SYT7_PLA2G6 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | PLA2G6 | C0270724 | Infantile Neuroaxonal Dystrophy | 2 | CTD_human;ORPHANET;UNIPROT |
Tgene | PLA2G6 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Tgene | PLA2G6 | C0027960 | Nevus | 1 | CTD_human |
Tgene | PLA2G6 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
Tgene | PLA2G6 | C0036341 | Schizophrenia | 1 | PSYGENET |
Tgene | PLA2G6 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
Tgene | PLA2G6 | C1857747 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) | 1 | CTD_human;UNIPROT |
Tgene | PLA2G6 | C2751842 | PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE | 1 | CTD_human;ORPHANET;UNIPROT |