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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: 12274

FusionGeneSummary for EXOC4_PTAFR

check button Fusion gene summary
Fusion gene informationFusion gene name: EXOC4_PTAFR
Fusion gene ID: 12274
HgeneTgene
Gene symbol

EXOC4

PTAFR

Gene ID

60412

5724

Gene nameexocyst complex component 4platelet activating factor receptor
SynonymsSEC8|SEC8L1|Sec8pPAFR
Cytomap

7q33

1p35.3

Type of geneprotein-codingprotein-coding
Descriptionexocyst complex component 4SEC8-like 1exocyst complex component Sec8platelet-activating factor receptorPAF-R
Modification date2018052320180523
UniProtAcc

Q96A65

P25105

Ensembl transtripts involved in fusion geneENST00000253861, ENST00000539845, 
ENST00000393161, ENST00000545148, 
ENST00000460346, ENST00000541309, 
ENST00000373857, ENST00000539896, 
ENST00000305392, 
Fusion gene scores* DoF score17 X 13 X 8=17681 X 1 X 1=1
# samples 161
** MAII scorelog2(16/1768*10)=-3.46597446450407
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: EXOC4 [Title/Abstract] AND PTAFR [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
TgenePTAFR

GO:0048015

phosphatidylinositol-mediated signaling

1657923


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
TCGARVLUADTCGA-05-4398-01AEXOC4chr7

133314894

+PTAFRchr1

28477570

-
* 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-5UTRENST00000253861ENST00000373857EXOC4chr7

133314894

+PTAFRchr1

28477570

-
5CDS-5UTRENST00000253861ENST00000539896EXOC4chr7

133314894

+PTAFRchr1

28477570

-
5CDS-5UTRENST00000253861ENST00000305392EXOC4chr7

133314894

+PTAFRchr1

28477570

-
5CDS-5UTRENST00000539845ENST00000373857EXOC4chr7

133314894

+PTAFRchr1

28477570

-
5CDS-5UTRENST00000539845ENST00000539896EXOC4chr7

133314894

+PTAFRchr1

28477570

-
5CDS-5UTRENST00000539845ENST00000305392EXOC4chr7

133314894

+PTAFRchr1

28477570

-
intron-5UTRENST00000393161ENST00000373857EXOC4chr7

133314894

+PTAFRchr1

28477570

-
intron-5UTRENST00000393161ENST00000539896EXOC4chr7

133314894

+PTAFRchr1

28477570

-
intron-5UTRENST00000393161ENST00000305392EXOC4chr7

133314894

+PTAFRchr1

28477570

-
5CDS-5UTRENST00000545148ENST00000373857EXOC4chr7

133314894

+PTAFRchr1

28477570

-
5CDS-5UTRENST00000545148ENST00000539896EXOC4chr7

133314894

+PTAFRchr1

28477570

-
5CDS-5UTRENST00000545148ENST00000305392EXOC4chr7

133314894

+PTAFRchr1

28477570

-
3UTR-5UTRENST00000460346ENST00000373857EXOC4chr7

133314894

+PTAFRchr1

28477570

-
3UTR-5UTRENST00000460346ENST00000539896EXOC4chr7

133314894

+PTAFRchr1

28477570

-
3UTR-5UTRENST00000460346ENST00000305392EXOC4chr7

133314894

+PTAFRchr1

28477570

-
intron-5UTRENST00000541309ENST00000373857EXOC4chr7

133314894

+PTAFRchr1

28477570

-
intron-5UTRENST00000541309ENST00000539896EXOC4chr7

133314894

+PTAFRchr1

28477570

-
intron-5UTRENST00000541309ENST00000305392EXOC4chr7

133314894

+PTAFRchr1

28477570

-

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FusionProtFeatures for EXOC4_PTAFR


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EXOC4

Q96A65

PTAFR

P25105

Component of the exocyst complex involved in the dockingof exocytic vesicles with fusion sites on the plasma membrane.{ECO:0000250}. Receptor for platelet activating factor, a chemotacticphospholipid mediator that possesses potent inflammatory, smooth-muscle contractile and hypotensive activity. Seems to mediate itsaction via a G protein that activates a phosphatidylinositol-calcium second messenger system. {ECO:0000269|PubMed:1281995,ECO:0000269|PubMed:1374385, ECO:0000269|PubMed:1656963,ECO:0000269|PubMed:1657923}.

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 EXOC4_PTAFR


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 EXOC4_PTAFR


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
EXOC4MYC, DLG3, EXOC3, GRIN2B, DLG4, EXOC7, GTF2E2, DISC1, DTNBP1, CEP63, EXOC1, MYO5A, EXOC2, EXOC8, EXOC5, IQCB1, EGFR, ATG5, ATG12, BECN1, SNAP29, BSG, TPM1, SETDB1, EXOC6, NTRK1, MED4, SCLT1, OFD1, PCM1, CNTROB, FGFR1OP, CEP128, CEP44, CNTRL, ODF2, DYNLT1, TMEM17, SNW1, CDC5L, PTAR1, MTMR4, STX11, IKBIP, IL1R2, GGA1, APLNR, EXOC3L2, EXOC6B, TSSC1, RABEP2, VPS51, RABEP1, RALB, TRIM25PTAFRARRB2, PTK2, JAK2, TYK2, ARRB1, CLTC, CALM1, GTPBP3, GORAB, SPATA24


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 EXOC4_PTAFR


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgenePTAFRP25105DB09166EtizolamPlatelet-activating factor receptorsmall moleculeapproved
TgenePTAFRP25105DB11614RupatadinePlatelet-activating factor receptorsmall moleculeapproved

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RelatedDiseases for EXOC4_PTAFR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePTAFRC0023893Liver Cirrhosis, Experimental1CTD_human
TgenePTAFRC0032460Polycystic Ovary Syndrome1CTD_human