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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: 24921

FusionGeneSummary for NSF_PIP5K1A

check button Fusion gene summary
Fusion gene informationFusion gene name: NSF_PIP5K1A
Fusion gene ID: 24921
HgeneTgene
Gene symbol

NSF

PIP5K1A

Gene ID

4905

8394

Gene nameN-ethylmaleimide sensitive factor, vesicle fusing ATPasephosphatidylinositol-4-phosphate 5-kinase type 1 alpha
SynonymsSEC18|SKD2-
Cytomap

17q21.31

1q21.3

Type of geneprotein-codingprotein-coding
Descriptionvesicle-fusing ATPaseN-ethylmaleimide-sensitive factor-like proteinN-ethylmaleimide-sensitive fusion proteinNEM-sensitive fusion proteinvesicular-fusion protein NSFphosphatidylinositol 4-phosphate 5-kinase type-1 alpha68 kDa type I phosphatidylinositol 4-phosphate 5-kinase alphaPIP5K1-alphaPIP5KIalphaphosphatidylinositol 4-phosphate 5-kinase type I alphaptdIns(4)P-5-kinase 1 alpha
Modification date2018052320180519
UniProtAcc

P46459

Q99755

Ensembl transtripts involved in fusion geneENST00000398238, ENST00000225282, 
ENST00000575068, 
ENST00000409426, 
ENST00000441902, ENST00000368890, 
ENST00000368888, ENST00000464105, 
ENST00000414290, 
Fusion gene scores* DoF score6 X 5 X 5=1505 X 5 X 3=75
# samples 65
** MAII scorelog2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NSF [Title/Abstract] AND PIP5K1A [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
HgeneNSF

GO:0001921

positive regulation of receptor recycling

15613468

TgenePIP5K1A

GO:0008654

phospholipid biosynthetic process

15157668


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
ChiTaRS3.1CD388184NSFchr17

44798995

-PIP5K1Achr1

151210701

-
* 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-3CDSENST00000398238ENST00000409426NSFchr17

44798995

-PIP5K1Achr1

151210701

-
intron-intronENST00000398238ENST00000441902NSFchr17

44798995

-PIP5K1Achr1

151210701

-
intron-intronENST00000398238ENST00000368890NSFchr17

44798995

-PIP5K1Achr1

151210701

-
intron-intronENST00000398238ENST00000368888NSFchr17

44798995

-PIP5K1Achr1

151210701

-
intron-intronENST00000398238ENST00000464105NSFchr17

44798995

-PIP5K1Achr1

151210701

-
intron-intronENST00000398238ENST00000414290NSFchr17

44798995

-PIP5K1Achr1

151210701

-
intron-3CDSENST00000225282ENST00000409426NSFchr17

44798995

-PIP5K1Achr1

151210701

-
intron-intronENST00000225282ENST00000441902NSFchr17

44798995

-PIP5K1Achr1

151210701

-
intron-intronENST00000225282ENST00000368890NSFchr17

44798995

-PIP5K1Achr1

151210701

-
intron-intronENST00000225282ENST00000368888NSFchr17

44798995

-PIP5K1Achr1

151210701

-
intron-intronENST00000225282ENST00000464105NSFchr17

44798995

-PIP5K1Achr1

151210701

-
intron-intronENST00000225282ENST00000414290NSFchr17

44798995

-PIP5K1Achr1

151210701

-
intron-3CDSENST00000575068ENST00000409426NSFchr17

44798995

-PIP5K1Achr1

151210701

-
intron-intronENST00000575068ENST00000441902NSFchr17

44798995

-PIP5K1Achr1

151210701

-
intron-intronENST00000575068ENST00000368890NSFchr17

44798995

-PIP5K1Achr1

151210701

-
intron-intronENST00000575068ENST00000368888NSFchr17

44798995

-PIP5K1Achr1

151210701

-
intron-intronENST00000575068ENST00000464105NSFchr17

44798995

-PIP5K1Achr1

151210701

-
intron-intronENST00000575068ENST00000414290NSFchr17

44798995

-PIP5K1Achr1

151210701

-

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FusionProtFeatures for NSF_PIP5K1A


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

P46459

PIP5K1A

Q99755

Required for vesicle-mediated transport. Catalyzes thefusion of transport vesicles within the Golgi cisternae. Is alsorequired for transport from the endoplasmic reticulum to the Golgistack. Seems to function as a fusion protein required for thedelivery of cargo proteins to all compartments of the Golgi stackindependent of vesicle origin. Interaction with AMPAR subunitGRIA2 leads to influence GRIA2 membrane cycling (By similarity).{ECO:0000250}. Catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PtdIns4P) to form phosphatidylinositol 4,5-bisphosphate(PtdIns(4,5)P2). PtdIns(4,5)P2 is involved in a variety ofcellular processes and is the substrate to formphosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3),another second messenger. The majority of PtdIns(4,5)P2 is thoughtto occur via type I phosphatidylinositol 4-phosphate 5-kinasesgiven the abundance of PtdIns4P. Participates in a variety ofcellular processes such as actin cytoskeleton organization, celladhesion, migration and phagocytosis. Required for membraneruffling formation, actin organization and focal adhesionformation during directional cell migration by controllingintegrin-induced translocation of RAC1 to the plasma membrane.Together with PIP5K1C is required for phagocytosis, but theyregulate different types of actin remodeling at sequential steps.Promotes particle ingestion by activating WAS that induces Arp2/3dependent actin polymerization at the nascent phagocytic cup.Together with PIP5K1B is required after stimulation of G-proteincoupled receptors for stable platelet adhesion. Plays a roleduring calcium-induced keratinocyte differentiation. Recruited tothe plasma membrane by the E-cadherin/beta-catenin complex whereit provides the substrate PtdIns(4,5)P2 for the production ofPtdIns(3,4,5)P3, diacylglycerol and inositol 1,4,5-trisphosphatethat mobilize internal calcium and drive keratinocytedifferentiation. Together with PIP5K1C have a role duringembryogenesis. Functions also in the nucleus where acts as anactivator of TUT1 adenylyltransferase activity in nuclearspeckles, thereby regulating mRNA polyadenylation of a select setof mRNAs. {ECO:0000269|PubMed:18288197,ECO:0000269|PubMed:19158393, ECO:0000269|PubMed:20660631}.

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 NSF_PIP5K1A


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 NSF_PIP5K1A


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 NSF_PIP5K1A


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 NSF_PIP5K1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNSFC0036341Schizophrenia1PSYGENET
HgeneNSFC0600427Cocaine Dependence1PSYGENET