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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: 27287

FusionGeneSummary for PIP5K1C_TJP3

check button Fusion gene summary
Fusion gene informationFusion gene name: PIP5K1C_TJP3
Fusion gene ID: 27287
HgeneTgene
Gene symbol

PIP5K1C

TJP3

Gene ID

23396

27134

Gene namephosphatidylinositol-4-phosphate 5-kinase type 1 gammatight junction protein 3
SynonymsLCCS3|PIP5K-GAMMA|PIP5K1-gamma|PIP5KgammaZO-3|ZO3
Cytomap

19p13.3

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylinositol 4-phosphate 5-kinase type-1 gammadiphosphoinositide kinasephosphatidylinositol-4-phosphate 5-kinase, type I, gammaptdIns(4)P-5-kinase 1 gammatype I PIP kinasetight junction protein ZO-3tight junction protein 3 (zona occludens 3)zona occludens protein 3zonula occludens protein 3
Modification date2018052020180522
UniProtAcc

O60331

O95049

Ensembl transtripts involved in fusion geneENST00000335312, ENST00000539785, 
ENST00000589578, ENST00000537021, 
ENST00000587482, 		ENST00000541714, 
ENST00000539908, ENST00000382008, 
ENST00000589378, ENST00000262968, 
ENST00000587686, ENST00000587641, 
Fusion gene scores* DoF score6 X 4 X 5=1204 X 3 X 3=36
# samples 64
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PIP5K1C [Title/Abstract] AND TJP3 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationKinase involved fusion gene, inframe and retained kinase domain.
* 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
TCGARVLGGTCGA-HT-A61B-01APIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
* 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
In-frameENST00000335312ENST00000541714PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-5UTRENST00000335312ENST00000539908PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-5UTRENST00000335312ENST00000382008PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-5UTRENST00000335312ENST00000589378PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-5UTRENST00000335312ENST00000262968PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-5UTRENST00000335312ENST00000587686PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-intronENST00000335312ENST00000587641PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
In-frameENST00000539785ENST00000541714PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-5UTRENST00000539785ENST00000539908PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-5UTRENST00000539785ENST00000382008PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-5UTRENST00000539785ENST00000589378PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-5UTRENST00000539785ENST00000262968PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-5UTRENST00000539785ENST00000587686PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-intronENST00000539785ENST00000587641PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
In-frameENST00000589578ENST00000541714PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-5UTRENST00000589578ENST00000539908PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-5UTRENST00000589578ENST00000382008PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-5UTRENST00000589578ENST00000589378PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-5UTRENST00000589578ENST00000262968PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-5UTRENST00000589578ENST00000587686PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-intronENST00000589578ENST00000587641PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
In-frameENST00000537021ENST00000541714PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-5UTRENST00000537021ENST00000539908PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-5UTRENST00000537021ENST00000382008PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-5UTRENST00000537021ENST00000589378PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-5UTRENST00000537021ENST00000262968PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-5UTRENST00000537021ENST00000587686PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5CDS-intronENST00000537021ENST00000587641PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5UTR-3CDSENST00000587482ENST00000541714PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5UTR-5UTRENST00000587482ENST00000539908PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5UTR-5UTRENST00000587482ENST00000382008PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5UTR-5UTRENST00000587482ENST00000589378PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5UTR-5UTRENST00000587482ENST00000262968PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5UTR-5UTRENST00000587482ENST00000587686PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+
5UTR-intronENST00000587482ENST00000587641PIP5K1Cchr19

3700295

-TJP3chr19

3728602

+

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FusionProtFeatures for PIP5K1C_TJP3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PIP5K1C

O60331

TJP3

O95049

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 vesicle mediated transport, celladhesion, cell polarization and cell migration. Together withPIP5K1A is required for phagocytosis, but they regulate differenttypes of actin remodeling at sequential steps. Promotes particleattachment by generating the pool of PtdIns(4,5)P2 that inducescontrolled actin depolymerization to facilitate Fc-gamma-Rclustering. Mediates RAC1-dependent reorganization of actinfilaments. Required for synaptic vesicle transport. Controls theplasma membrane pool of PtdIns(4,5)P2 implicated in synapticvesicle endocytosis and exocytosis. Plays a role in endocytosismediated by clathrin and AP-2 (adaptor protein complex 2).Required for clathrin-coated pits assembly at the synapse.Participates in cell junction assembly. Modulates adherensjunctions formation by facilitating CDH1 trafficking. Required forfocal adhesion dynamics. Modulates the targeting of talins (TLN1and TLN2) to the plasma membrane and their efficient assembly intofocal adhesions. Regulates the interaction between talins (TLN1and TLN2) and beta-integrins. Required for uropodium formation andretraction of the cell rear during directed migration. Has a rolein growth factor- stimulated directional cell migration andadhesion. Required for talin assembly into nascent adhesionsforming at the leading edge toward the direction of the growthfactor. Negative regulator of T-cell activation and adhesion.Negatively regulates integrin alpha-L/beta-2 (LFA-1) polarizationand adhesion induced by T-cell receptor. Together with PIP5K1A hasa role during embryogenesis and together with PIP5K1B may have arole immediately after birth. {ECO:0000269|PubMed:12422219,ECO:0000269|PubMed:12847086, ECO:0000269|PubMed:17261850,ECO:0000269|PubMed:17635937}.

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
TgeneTJP3chr19:3700295chr19:3728602ENST00000262968+020195_27235953DomainPDZ 2
TgeneTJP3chr19:3700295chr19:3728602ENST00000262968+020380_44635953DomainPDZ 3
TgeneTJP3chr19:3700295chr19:3728602ENST00000262968+020475_54935953DomainSH3
TgeneTJP3chr19:3700295chr19:3728602ENST00000262968+020580_76135953DomainGuanylate kinase-like
TgeneTJP3chr19:3700295chr19:3728602ENST00000382008+121195_27216934DomainPDZ 2
TgeneTJP3chr19:3700295chr19:3728602ENST00000382008+121380_44616934DomainPDZ 3
TgeneTJP3chr19:3700295chr19:3728602ENST00000382008+121475_54916934DomainSH3
TgeneTJP3chr19:3700295chr19:3728602ENST00000382008+121580_76116934DomainGuanylate kinase-like
TgeneTJP3chr19:3700295chr19:3728602ENST00000587686+020195_27235939DomainPDZ 2
TgeneTJP3chr19:3700295chr19:3728602ENST00000587686+020380_44635939DomainPDZ 3
TgeneTJP3chr19:3700295chr19:3728602ENST00000587686+020475_54935939DomainSH3
TgeneTJP3chr19:3700295chr19:3728602ENST00000587686+020580_76135939DomainGuanylate kinase-like
TgeneTJP3chr19:3700295chr19:3728602ENST00000589378+121195_27225929DomainPDZ 2
TgeneTJP3chr19:3700295chr19:3728602ENST00000589378+121380_44625929DomainPDZ 3
TgeneTJP3chr19:3700295chr19:3728602ENST00000589378+121475_54925929DomainSH3
TgeneTJP3chr19:3700295chr19:3728602ENST00000589378+121580_76125929DomainGuanylate kinase-like

- In-frame and not-retained protein feature among the 13 regional features.
>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePIP5K1Cchr19:3700295chr19:3728602ENST00000335312-11875_44331669DomainPIPK
HgenePIP5K1Cchr19:3700295chr19:3728602ENST00000537021-11775_44331701DomainPIPK
HgenePIP5K1Cchr19:3700295chr19:3728602ENST00000539785-11775_44331641DomainPIPK
HgenePIP5K1Cchr19:3700295chr19:3728602ENST00000589578-11775_44331708DomainPIPK
TgeneTJP3chr19:3700295chr19:3728602ENST00000262968+02011_9335953DomainPDZ 1
TgeneTJP3chr19:3700295chr19:3728602ENST00000382008+12111_9316934DomainPDZ 1
TgeneTJP3chr19:3700295chr19:3728602ENST00000587686+02011_9335939DomainPDZ 1
TgeneTJP3chr19:3700295chr19:3728602ENST00000589378+12111_9325929DomainPDZ 1


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FusionGeneSequence for PIP5K1C_TJP3


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 PIP5K1C_TJP3


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
PIP5K1CPIP5KL1, ARF6, TLN2, SNX5, TLN1, CDH1, AP2A2, AP2B1, MOV10, LAPTM4B, RABGGTB, PIP5K1A, ITGB1, NEDD4, COQ2, SOAT1, VDAC1, UBCTJP3INADL, TJP1, CLDN1, FASLG, CFTR, XPO1


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 PIP5K1C_TJP3


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 PIP5K1C_TJP3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePIP5K1CC1969655LETHAL CONGENITAL CONTRACTURAL SYNDROME 31CTD_human;ORPHANET;UNIPROT
TgeneTJP3C0033578Prostatic Neoplasms1CTD_human