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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: 28170

FusionGeneSummary for PPFIA4_SYT2

check button Fusion gene summary
Fusion gene informationFusion gene name: PPFIA4_SYT2
Fusion gene ID: 28170
HgeneTgene
Gene symbol

PPFIA4

SYT2

Gene ID

8497

127833

Gene namePTPRF interacting protein alpha 4synaptotagmin 2
Synonyms-CMS7|MYSPC|SytII
Cytomap

1q32.1

1q32.1

Type of geneprotein-codingprotein-coding
Descriptionliprin-alpha-4protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4synaptotagmin-2synaptotagmin II
Modification date2018052220180523
UniProtAcc

O75335

Q8N9I0

Ensembl transtripts involved in fusion geneENST00000367240, ENST00000295706, 
ENST00000447715, ENST00000414050, 
ENST00000272198, ENST00000599966, 
ENST00000594572, 		ENST00000367268, 
ENST00000367267, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 2=8
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: PPFIA4 [Title/Abstract] AND SYT2 [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
TgeneSYT2

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
ChiTaRS3.1DB297497PPFIA4chr1

203047731

-SYT2chr1

202565206

+
* 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
3UTR-3UTRENST00000367240ENST00000367268PPFIA4chr1

203047731

-SYT2chr1

202565206

+
3UTR-3UTRENST00000367240ENST00000367267PPFIA4chr1

203047731

-SYT2chr1

202565206

+
3UTR-3UTRENST00000295706ENST00000367268PPFIA4chr1

203047731

-SYT2chr1

202565206

+
3UTR-3UTRENST00000295706ENST00000367267PPFIA4chr1

203047731

-SYT2chr1

202565206

+
3UTR-3UTRENST00000447715ENST00000367268PPFIA4chr1

203047731

-SYT2chr1

202565206

+
3UTR-3UTRENST00000447715ENST00000367267PPFIA4chr1

203047731

-SYT2chr1

202565206

+
intron-3UTRENST00000414050ENST00000367268PPFIA4chr1

203047731

-SYT2chr1

202565206

+
intron-3UTRENST00000414050ENST00000367267PPFIA4chr1

203047731

-SYT2chr1

202565206

+
3UTR-3UTRENST00000272198ENST00000367268PPFIA4chr1

203047731

-SYT2chr1

202565206

+
3UTR-3UTRENST00000272198ENST00000367267PPFIA4chr1

203047731

-SYT2chr1

202565206

+
intron-3UTRENST00000599966ENST00000367268PPFIA4chr1

203047731

-SYT2chr1

202565206

+
intron-3UTRENST00000599966ENST00000367267PPFIA4chr1

203047731

-SYT2chr1

202565206

+
intron-3UTRENST00000594572ENST00000367268PPFIA4chr1

203047731

-SYT2chr1

202565206

+
intron-3UTRENST00000594572ENST00000367267PPFIA4chr1

203047731

-SYT2chr1

202565206

+

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FusionProtFeatures for PPFIA4_SYT2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPFIA4

O75335

SYT2

Q8N9I0

May regulate the disassembly of focal adhesions. Maylocalize receptor-like tyrosine phosphatases type 2A at specificsites on the plasma membrane, possibly regulating theirinteraction with the extracellular environment and theirassociation with substrates (By similarity). {ECO:0000250}. Exhibits calcium-dependent phospholipid and inositolpolyphosphate binding properties (By similarity). May have aregulatory role in the membrane interactions during trafficking ofsynaptic vesicles at the active zone of the synapse (Bysimilarity). Plays a role in dendrite formation by melanocytes(PubMed:23999003). {ECO:0000250|UniProtKB:P46097,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 PPFIA4_SYT2


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 PPFIA4_SYT2


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 PPFIA4_SYT2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneSYT2Q8N9I0DB00042Botulinum Toxin Type BSynaptotagmin-2 {ECO:0000305}biotechapproved|investigational

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RelatedDiseases for PPFIA4_SYT2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSYT2C4015038MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC1UNIPROT