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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: 28165

FusionGeneSummary for PPFIA2_SYT1

check button Fusion gene summary
Fusion gene informationFusion gene name: PPFIA2_SYT1
Fusion gene ID: 28165
HgeneTgene
Gene symbol

PPFIA2

SYT1

Gene ID

8499

6857

Gene namePTPRF interacting protein alpha 2synaptotagmin 1
Synonyms-P65|SVP65|SYT
Cytomap

12q21.31

12q21.2

Type of geneprotein-codingprotein-coding
Descriptionliprin-alpha-2protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2synaptotagmin-1synaptotagmin IsytI
Modification date2018052220180523
UniProtAcc

O75334

P21579

Ensembl transtripts involved in fusion geneENST00000549396, ENST00000550584, 
ENST00000549325, ENST00000545296, 
ENST00000550359, ENST00000407050, 
ENST00000333447, ENST00000548586, 
ENST00000443686, ENST00000552948, 
ENST00000541570, ENST00000541017, 
ENST00000393240, ENST00000261205, 
ENST00000457153, ENST00000552744, 
ENST00000549454, 
Fusion gene scores* DoF score10 X 6 X 4=24015 X 9 X 6=810
# samples 1016
** MAII scorelog2(10/240*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/810*10)=-2.33985000288462
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PPFIA2 [Title/Abstract] AND SYT1 [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
TgeneSYT1

GO:1903861

positive regulation of dendrite extension

23999003


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
TCGALDSARCTCGA-DX-A2J4-01APPFIA2chr12

81851544

-SYT1chr12

79441077

+
* 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
5CDS-5UTRENST00000549396ENST00000393240PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000549396ENST00000261205PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-intronENST00000549396ENST00000457153PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000549396ENST00000552744PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-3UTRENST00000549396ENST00000549454PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000550584ENST00000393240PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000550584ENST00000261205PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-intronENST00000550584ENST00000457153PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000550584ENST00000552744PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-3UTRENST00000550584ENST00000549454PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000549325ENST00000393240PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000549325ENST00000261205PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-intronENST00000549325ENST00000457153PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000549325ENST00000552744PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-3UTRENST00000549325ENST00000549454PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5UTR-5UTRENST00000545296ENST00000393240PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5UTR-5UTRENST00000545296ENST00000261205PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5UTR-intronENST00000545296ENST00000457153PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5UTR-5UTRENST00000545296ENST00000552744PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5UTR-3UTRENST00000545296ENST00000549454PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5UTR-5UTRENST00000550359ENST00000393240PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5UTR-5UTRENST00000550359ENST00000261205PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5UTR-intronENST00000550359ENST00000457153PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5UTR-5UTRENST00000550359ENST00000552744PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5UTR-3UTRENST00000550359ENST00000549454PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000407050ENST00000393240PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000407050ENST00000261205PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-intronENST00000407050ENST00000457153PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000407050ENST00000552744PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-3UTRENST00000407050ENST00000549454PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000333447ENST00000393240PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000333447ENST00000261205PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-intronENST00000333447ENST00000457153PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000333447ENST00000552744PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-3UTRENST00000333447ENST00000549454PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000548586ENST00000393240PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000548586ENST00000261205PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-intronENST00000548586ENST00000457153PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000548586ENST00000552744PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-3UTRENST00000548586ENST00000549454PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000443686ENST00000393240PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000443686ENST00000261205PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-intronENST00000443686ENST00000457153PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000443686ENST00000552744PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-3UTRENST00000443686ENST00000549454PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000552948ENST00000393240PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000552948ENST00000261205PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-intronENST00000552948ENST00000457153PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-5UTRENST00000552948ENST00000552744PPFIA2chr12

81851544

-SYT1chr12

79441077

+
5CDS-3UTRENST00000552948ENST00000549454PPFIA2chr12

81851544

-SYT1chr12

79441077

+
intron-5UTRENST00000541570ENST00000393240PPFIA2chr12

81851544

-SYT1chr12

79441077

+
intron-5UTRENST00000541570ENST00000261205PPFIA2chr12

81851544

-SYT1chr12

79441077

+
intron-intronENST00000541570ENST00000457153PPFIA2chr12

81851544

-SYT1chr12

79441077

+
intron-5UTRENST00000541570ENST00000552744PPFIA2chr12

81851544

-SYT1chr12

79441077

+
intron-3UTRENST00000541570ENST00000549454PPFIA2chr12

81851544

-SYT1chr12

79441077

+
intron-5UTRENST00000541017ENST00000393240PPFIA2chr12

81851544

-SYT1chr12

79441077

+
intron-5UTRENST00000541017ENST00000261205PPFIA2chr12

81851544

-SYT1chr12

79441077

+
intron-intronENST00000541017ENST00000457153PPFIA2chr12

81851544

-SYT1chr12

79441077

+
intron-5UTRENST00000541017ENST00000552744PPFIA2chr12

81851544

-SYT1chr12

79441077

+
intron-3UTRENST00000541017ENST00000549454PPFIA2chr12

81851544

-SYT1chr12

79441077

+

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FusionProtFeatures for PPFIA2_SYT1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPFIA2

O75334

SYT1

P21579

May have a regulatory role in the membrane interactionsduring trafficking of synaptic vesicles at the active zone of thesynapse. It binds acidic phospholipids with a specificity thatrequires the presence of both an acidic head group and a diacylbackbone. A Ca(2+)-dependent interaction between synaptotagmin andputative receptors for activated protein kinase C has also beenreported. It can bind to at least three additional proteins in aCa(2+)-independent manner; these are neurexins, syntaxin and AP2.Plays a role in dendrite formation by melanocytes(PubMed:23999003). {ECO:0000269|PubMed:23999003}.

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 PPFIA2_SYT1


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 PPFIA2_SYT1


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
PPFIA2GIT1, ERC2, PPP2CA, PPP2R1A, PPFIA1, PPFIA2, PTPRF, PTPRS, CDC5L, ITSN1, PTPRD, PPFIA3, PPFIBP1, PPFIBP2SYT1SV2B, C6orf15, SV2C, GOLM1, S100A13, CALM1, STX1A, STON2, SYNCRIP, SNAP25, CACNA1A, STX2, STX3, STX4, FGF1, IKBKG, RBM14, SIN3A, NEDD4, VAMP2, SMAD2, ARMC1, HAX1, NUFIP1, DGUOK, DNAAF2, SYT5, NTRK1, SYT2, VLDLR, CWC22, EIF2B3, EIF2B5, EIF2B4, PGK2, EIF2B2, LRP2, CDCA8, RRP7A


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 PPFIA2_SYT1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for PPFIA2_SYT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource