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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: 36983

FusionGeneSummary for SYT1_PHKB

check button Fusion gene summary
Fusion gene informationFusion gene name: SYT1_PHKB
Fusion gene ID: 36983
HgeneTgene
Gene symbol

SYT1

PHKB

Gene ID

6857

5257

Gene namesynaptotagmin 1phosphorylase kinase regulatory subunit beta
SynonymsP65|SVP65|SYT-
Cytomap

12q21.2

16q12.1

Type of geneprotein-codingprotein-coding
Descriptionsynaptotagmin-1synaptotagmin IsytIphosphorylase b kinase regulatory subunit betaphosphorylase kinase beta-subunitphosphorylase kinase subunit betaphosphorylase kinase, beta
Modification date2018052320180523
UniProtAcc

P21579

Q93100

Ensembl transtripts involved in fusion geneENST00000393240, ENST00000261205, 
ENST00000457153, ENST00000552744, 
ENST00000549454, 
ENST00000566044, 
ENST00000455779, ENST00000299167, 
ENST00000323584, ENST00000567402, 
Fusion gene scores* DoF score9 X 6 X 3=1624 X 4 X 4=64
# samples 104
** MAII scorelog2(10/162*10)=-0.6959938131099
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SYT1 [Title/Abstract] AND PHKB [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
HgeneSYT1

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
TCGARVSARCTCGA-DX-A23R-01ASYT1chr12

79258889

+PHKBchr16

47722952

+
* 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
5UTR-3CDSENST00000393240ENST00000566044SYT1chr12

79258889

+PHKBchr16

47722952

+
5UTR-3CDSENST00000393240ENST00000455779SYT1chr12

79258889

+PHKBchr16

47722952

+
5UTR-3CDSENST00000393240ENST00000299167SYT1chr12

79258889

+PHKBchr16

47722952

+
5UTR-3CDSENST00000393240ENST00000323584SYT1chr12

79258889

+PHKBchr16

47722952

+
5UTR-intronENST00000393240ENST00000567402SYT1chr12

79258889

+PHKBchr16

47722952

+
5UTR-3CDSENST00000261205ENST00000566044SYT1chr12

79258889

+PHKBchr16

47722952

+
5UTR-3CDSENST00000261205ENST00000455779SYT1chr12

79258889

+PHKBchr16

47722952

+
5UTR-3CDSENST00000261205ENST00000299167SYT1chr12

79258889

+PHKBchr16

47722952

+
5UTR-3CDSENST00000261205ENST00000323584SYT1chr12

79258889

+PHKBchr16

47722952

+
5UTR-intronENST00000261205ENST00000567402SYT1chr12

79258889

+PHKBchr16

47722952

+
5UTR-3CDSENST00000457153ENST00000566044SYT1chr12

79258889

+PHKBchr16

47722952

+
5UTR-3CDSENST00000457153ENST00000455779SYT1chr12

79258889

+PHKBchr16

47722952

+
5UTR-3CDSENST00000457153ENST00000299167SYT1chr12

79258889

+PHKBchr16

47722952

+
5UTR-3CDSENST00000457153ENST00000323584SYT1chr12

79258889

+PHKBchr16

47722952

+
5UTR-intronENST00000457153ENST00000567402SYT1chr12

79258889

+PHKBchr16

47722952

+
intron-3CDSENST00000552744ENST00000566044SYT1chr12

79258889

+PHKBchr16

47722952

+
intron-3CDSENST00000552744ENST00000455779SYT1chr12

79258889

+PHKBchr16

47722952

+
intron-3CDSENST00000552744ENST00000299167SYT1chr12

79258889

+PHKBchr16

47722952

+
intron-3CDSENST00000552744ENST00000323584SYT1chr12

79258889

+PHKBchr16

47722952

+
intron-intronENST00000552744ENST00000567402SYT1chr12

79258889

+PHKBchr16

47722952

+
intron-3CDSENST00000549454ENST00000566044SYT1chr12

79258889

+PHKBchr16

47722952

+
intron-3CDSENST00000549454ENST00000455779SYT1chr12

79258889

+PHKBchr16

47722952

+
intron-3CDSENST00000549454ENST00000299167SYT1chr12

79258889

+PHKBchr16

47722952

+
intron-3CDSENST00000549454ENST00000323584SYT1chr12

79258889

+PHKBchr16

47722952

+
intron-intronENST00000549454ENST00000567402SYT1chr12

79258889

+PHKBchr16

47722952

+

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FusionProtFeatures for SYT1_PHKB


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SYT1

P21579

PHKB

Q93100

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}. Phosphorylase b kinase catalyzes the phosphorylation ofserine in certain substrates, including troponin I. The beta chainacts as a regulatory unit and modulates the activity of theholoenzyme in response to phosphorylation.

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 SYT1_PHKB


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 SYT1_PHKB


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
SYT1SV2B, 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, RRP7APHKBC20orf27, HNRNPC, UBE3A, RAVER1, BRAF, DCP2, AURKB, TP53, CAMK2B, CALM1, DOK4, MPPED1, CORO1B, CORO1C, NTRK1, MED23, HERC2, PHKG2, PTPRT, EYA2, VBP1, TULP3, LGALS3BP


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 SYT1_PHKB


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 SYT1_PHKB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePHKBC0543514Glycogen Storage Disease IXB1CTD_human;ORPHANET;UNIPROT