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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: 36681

FusionGeneSummary for STXBP4_PPM1D

check button Fusion gene summary
Fusion gene informationFusion gene name: STXBP4_PPM1D
Fusion gene ID: 36681
HgeneTgene
Gene symbol

STXBP4

PPM1D

Gene ID

252983

8493

Gene namesyntaxin binding protein 4protein phosphatase, Mg2+/Mn2+ dependent 1D
SynonymsSynipIDDGIP|PP2C-DELTA|WIP1
Cytomap

17q22

17q23.2

Type of geneprotein-codingprotein-coding
Descriptionsyntaxin-binding protein 4STX4-interacting proteinsyntaxin 4 interacting proteinprotein phosphatase 1Dprotein phosphatase 1D magnesium-dependent, delta isoformprotein phosphatase 2C delta isoformprotein phosphatase Wip1wild-type p53-induced phosphatase 1
Modification date2018052020180519
UniProtAcc

Q6ZWJ1

O15297

Ensembl transtripts involved in fusion geneENST00000299341, ENST00000376352, 
ENST00000405898, ENST00000434978, 
ENST00000398391, 
ENST00000305921, 
Fusion gene scores* DoF score4 X 4 X 2=321 X 1 X 1=1
# samples 31
** MAII scorelog2(3/32*10)=-0.0931094043914815
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: STXBP4 [Title/Abstract] AND PPM1D [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
HgeneSTXBP4

GO:0006974

cellular response to DNA damage stimulus

19451233

HgeneSTXBP4

GO:0061178

regulation of insulin secretion involved in cellular response to glucose stimulus

12855681

TgenePPM1D

GO:0035970

peptidyl-threonine dephosphorylation

20801214


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
TCGALDBRCATCGA-A8-A09I-01ASTXBP4chr17

53124515

+PPM1Dchr17

58700882

+
* 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
intron-3CDSENST00000299341ENST00000305921STXBP4chr17

53124515

+PPM1Dchr17

58700882

+
Frame-shitENST00000376352ENST00000305921STXBP4chr17

53124515

+PPM1Dchr17

58700882

+
intron-3CDSENST00000405898ENST00000305921STXBP4chr17

53124515

+PPM1Dchr17

58700882

+
intron-3CDSENST00000434978ENST00000305921STXBP4chr17

53124515

+PPM1Dchr17

58700882

+
intron-3CDSENST00000398391ENST00000305921STXBP4chr17

53124515

+PPM1Dchr17

58700882

+

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FusionProtFeatures for STXBP4_PPM1D


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
STXBP4

Q6ZWJ1

PPM1D

O15297

Plays a role in the translocation of transport vesiclesfrom the cytoplasm to the plasma membrane. Inhibits thetranslocation of SLC2A4 from intracellular vesicles to the plasmamembrane by STX4A binding and preventing the interaction betweenSTX4A and VAMP2. Stimulation with insulin disrupts the interactionwith STX4A, leading to increased levels of SLC2A4 at the plasmamembrane. May also play a role in the regulation of insulinrelease by pancreatic beta cells after stimulation by glucose (Bysimilarity). {ECO:0000250}. Involved in the negative regulation of p53 expression(PubMed:23242139). Required for the relief of p53-dependentcheckpoint mediated cell cycle arrest. Binds to anddephosphorylates 'Ser-15' of TP53 and 'Ser-345' of CHEK1 whichcontributes to the functional inactivation of these proteins(PubMed:15870257, PubMed:16311512). Mediates MAPK14dephosphorylation and inactivation (PubMed:21283629). Is also animportant regulator of global heterochromatin silencing andcritical in maintaining genome integrity (By similarity).{ECO:0000250|UniProtKB:Q9QZ67, ECO:0000269|PubMed:15870257,ECO:0000269|PubMed:16311512, ECO:0000269|PubMed:21283629,ECO:0000269|PubMed:23242139}.

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 STXBP4_PPM1D


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 STXBP4_PPM1D


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
STXBP4ATN1, LATS2, KLHL42, PRRG4, TMEM171, C20orf195, SUSD6, MBIP, FAM189A2, VPS28, LDLRAD4, TP53, OFD1, CNTROB, CEP128, PTPN13, ERP44, PTPN14, WDTC1, CDR2, ARRDC3, RGS2, CCDC120, PLK1, PMF1, MPP5, PTPN21PPM1DCDC5L, MDM2, H2AFX, RAD21, UBC, KDM1A, BEX2, CASZ1, DIRAS3, DKK3, EPSTI1, ERRFI1, GLCE, ITIH5, LYPD3, MRC2, NAT2, OSGIN1, RHOBTB2, WHSC1L1, KPNA2, KPNA3, KPNB1, NUP153, PSMD4, RANBP2, SPAG9, CHEK2


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 STXBP4_PPM1D


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 STXBP4_PPM1D


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePPM1DC0017638Glioma1CTD_human
TgenePPM1DC0677866Brain Stem Neoplasms1CTD_human