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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 36992

FusionGeneSummary for SYT7_PLA2G6

check button Fusion gene summary
Fusion gene informationFusion gene name: SYT7_PLA2G6
Fusion gene ID: 36992
HgeneTgene
Gene symbol

SYT7

PLA2G6

Gene ID

9066

8398

Gene namesynaptotagmin 7phospholipase A2 group VI
SynonymsIPCA-7|IPCA7|PCANAP7|SYT-VII|SYTVIICaI-PLA2|GVI|INAD1|IPLA2-VIA|NBIA2|NBIA2A|NBIA2B|PARK14|PLA2|PNPLA9|iPLA2|iPLA2beta
Cytomap

11q12.2

22q13.1

Type of geneprotein-codingprotein-coding
Descriptionsynaptotagmin-7prostate cancer-associated protein 7synaptotagmin VII85/88 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 date2018052320180522
UniProtAcc

O43581

O60733

Ensembl transtripts involved in fusion geneENST00000263846, ENST00000540677, 
ENST00000539008, ENST00000542836, 
ENST00000542670, ENST00000535826, 
ENST00000540831, 
ENST00000332509, 
ENST00000335539, ENST00000402064, 
ENST00000490473, ENST00000436218, 
ENST00000447598, ENST00000435484, 
ENST00000417303, 
Fusion gene scores* DoF score7 X 7 X 5=2457 X 7 X 7=343
# samples 78
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgenePLA2G6

GO:0019731

antibacterial humoral response

18714013


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BF871762SYT7chr11

61300411

+PLA2G6chr22

38522333

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000263846ENST00000332509SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000263846ENST00000335539SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000263846ENST00000402064SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000263846ENST00000490473SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000263846ENST00000436218SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000263846ENST00000447598SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000263846ENST00000435484SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000263846ENST00000417303SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000540677ENST00000332509SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000540677ENST00000335539SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000540677ENST00000402064SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000540677ENST00000490473SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000540677ENST00000436218SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000540677ENST00000447598SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000540677ENST00000435484SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000540677ENST00000417303SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000539008ENST00000332509SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000539008ENST00000335539SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000539008ENST00000402064SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000539008ENST00000490473SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000539008ENST00000436218SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000539008ENST00000447598SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000539008ENST00000435484SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000539008ENST00000417303SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000542836ENST00000332509SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000542836ENST00000335539SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000542836ENST00000402064SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000542836ENST00000490473SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000542836ENST00000436218SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000542836ENST00000447598SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000542836ENST00000435484SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000542836ENST00000417303SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000542670ENST00000332509SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000542670ENST00000335539SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000542670ENST00000402064SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000542670ENST00000490473SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000542670ENST00000436218SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000542670ENST00000447598SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000542670ENST00000435484SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000542670ENST00000417303SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000535826ENST00000332509SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000535826ENST00000335539SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000535826ENST00000402064SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000535826ENST00000490473SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000535826ENST00000436218SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000535826ENST00000447598SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000535826ENST00000435484SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000535826ENST00000417303SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000540831ENST00000332509SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000540831ENST00000335539SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000540831ENST00000402064SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000540831ENST00000490473SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000540831ENST00000436218SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000540831ENST00000447598SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000540831ENST00000435484SYT7chr11

61300411

+PLA2G6chr22

38522333

-
intron-intronENST00000540831ENST00000417303SYT7chr11

61300411

+PLA2G6chr22

38522333

-

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FusionProtFeatures for SYT7_PLA2G6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SYT7

O43581

PLA2G6

O60733

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.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for SYT7_PLA2G6


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for SYT7_PLA2G6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgenePLA2G6O60733DB01103Quinacrine85/88 kDa calcium-independent phospholipase A2small moleculeapproved|investigational

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RelatedDiseases for SYT7_PLA2G6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePLA2G6C0270724Infantile Neuroaxonal Dystrophy2CTD_human;ORPHANET;UNIPROT
TgenePLA2G6C0005586Bipolar Disorder1PSYGENET
TgenePLA2G6C0027960Nevus1CTD_human
TgenePLA2G6C0033975Psychotic Disorders1PSYGENET
TgenePLA2G6C0036341Schizophrenia1PSYGENET
TgenePLA2G6C0349204Nonorganic psychosis1PSYGENET
TgenePLA2G6C1857747NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)1CTD_human;UNIPROT
TgenePLA2G6C2751842PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE1CTD_human;ORPHANET;UNIPROT