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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: 27788

FusionGeneSummary for PMF1_SYT11

check button Fusion gene summary
Fusion gene informationFusion gene name: PMF1_SYT11
Fusion gene ID: 27788
HgeneTgene
Gene symbol

PMF1

SYT11

Gene ID

100527963

91683

Gene namePMF1-BGLAP readthroughsynaptotagmin 12
SynonymsPMF1SYT11|sytXII
Cytomap

1q22

11q13.2

Type of geneprotein-codingprotein-coding
DescriptionPMF1-BGLAP proteinpolyamine-modulated factor 1synaptotagmin-12synaptotagmin-XII
Modification date2018051920180523
UniProtAcc

Q6P1K2

Q9BT88

Ensembl transtripts involved in fusion geneENST00000368279, ENST00000368273, 
ENST00000368277, ENST00000565805, 
ENST00000567140, 
ENST00000368324, 
ENST00000539162, 
Fusion gene scores* DoF score2 X 1 X 2=44 X 1 X 4=16
# samples 24
** MAII scorelog2(2/4*10)=2.32192809488736log2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PMF1 [Title/Abstract] AND SYT11 [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

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
TCGARVSTADTCGA-BR-8590-01APMF1chr1

156182967

+SYT11chr1

155850291

+
* 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
Frame-shitENST00000368279ENST00000368324PMF1chr1

156182967

+SYT11chr1

155850291

+
5CDS-5UTRENST00000368279ENST00000539162PMF1chr1

156182967

+SYT11chr1

155850291

+
Frame-shitENST00000368273ENST00000368324PMF1chr1

156182967

+SYT11chr1

155850291

+
5CDS-5UTRENST00000368273ENST00000539162PMF1chr1

156182967

+SYT11chr1

155850291

+
Frame-shitENST00000368277ENST00000368324PMF1chr1

156182967

+SYT11chr1

155850291

+
5CDS-5UTRENST00000368277ENST00000539162PMF1chr1

156182967

+SYT11chr1

155850291

+
Frame-shitENST00000565805ENST00000368324PMF1chr1

156182967

+SYT11chr1

155850291

+
5CDS-5UTRENST00000565805ENST00000539162PMF1chr1

156182967

+SYT11chr1

155850291

+
Frame-shitENST00000567140ENST00000368324PMF1chr1

156182967

+SYT11chr1

155850291

+
5CDS-5UTRENST00000567140ENST00000539162PMF1chr1

156182967

+SYT11chr1

155850291

+

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FusionProtFeatures for PMF1_SYT11


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PMF1

Q6P1K2

SYT11

Q9BT88

May be involved in Ca(2+)-dependent exocytosis ofsecretory vesicles through Ca(2+) and phospholipid binding to theC2 domain or may serve as Ca(2+) sensors in the process ofvesicular trafficking and exocytosis. {ECO:0000250}.

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 PMF1_SYT11


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 PMF1_SYT11


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
PMF1NFE2L2, MIS12, DSN1, GDF9, KIAA1377, MED31, CRMP1, PTN, COPS6, GIT1, COPS7A, SUGT1, HSP90AA1, TCP10L, KDM1A, USHBP1, BUB1B, NSMCE1, NSL1, ZWINT, SGTB, SEC63, PGRMC2, ZRANB1, WDR45B, GNPAT, PPP1CC, ZMPSTE24, CMTM6, GFER, TALDO1, SPC24, SPC25, CASC5, NUF2, KIF21B, BICD2, RUFY2, GCC2, NDC80, ZC4H2, CEP89, FBXO28, RUFY1, TSNAX, ATG16L1, NRBF2, ALOX5, MLLT10, CENPC, RGPD8, STXBP4, MLF1, TRIM25, UBE2SSYT11APPBP2, PARK2, ATP13A2, SGTA, TTC1, UBE2O, PDLIM7, PRKAR1B, PDLIM5, NTRK1


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 PMF1_SYT11


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 PMF1_SYT11


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSYT11C0036341Schizophrenia1PSYGENET