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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: 27272

FusionGeneSummary for PIP5K1A_C1orf56

check button Fusion gene summary
Fusion gene informationFusion gene name: PIP5K1A_C1orf56
Fusion gene ID: 27272
HgeneTgene
Gene symbol

PIP5K1A

C1orf56

Gene ID

8394

54964

Gene namephosphatidylinositol-4-phosphate 5-kinase type 1 alphachromosome 1 open reading frame 56
Synonyms-MENT
Cytomap

1q21.3

1q21.3

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylinositol 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 alphaprotein MENTmethylated in normal thymocytes protein
Modification date2018051920180329
UniProtAcc

Q99755

Ensembl transtripts involved in fusion geneENST00000409426, ENST00000441902, 
ENST00000368890, ENST00000368888, 
ENST00000464105, ENST00000414290, 
ENST00000368926, ENST00000465135, 
Fusion gene scores* DoF score6 X 3 X 4=722 X 2 X 2=8
# samples 52
** MAII scorelog2(5/72*10)=-0.526068811667588
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: PIP5K1A [Title/Abstract] AND C1orf56 [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
HgenePIP5K1A

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
TCGARVLUADTCGA-86-8673-01APIP5K1Achr1

151199876

+C1orf56chr1

151022914

+
* 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-shitENST00000409426ENST00000368926PIP5K1Achr1

151199876

+C1orf56chr1

151022914

+
5CDS-3UTRENST00000409426ENST00000465135PIP5K1Achr1

151199876

+C1orf56chr1

151022914

+
Frame-shitENST00000441902ENST00000368926PIP5K1Achr1

151199876

+C1orf56chr1

151022914

+
5CDS-3UTRENST00000441902ENST00000465135PIP5K1Achr1

151199876

+C1orf56chr1

151022914

+
Frame-shitENST00000368890ENST00000368926PIP5K1Achr1

151199876

+C1orf56chr1

151022914

+
5CDS-3UTRENST00000368890ENST00000465135PIP5K1Achr1

151199876

+C1orf56chr1

151022914

+
Frame-shitENST00000368888ENST00000368926PIP5K1Achr1

151199876

+C1orf56chr1

151022914

+
5CDS-3UTRENST00000368888ENST00000465135PIP5K1Achr1

151199876

+C1orf56chr1

151022914

+
intron-3CDSENST00000464105ENST00000368926PIP5K1Achr1

151199876

+C1orf56chr1

151022914

+
intron-3UTRENST00000464105ENST00000465135PIP5K1Achr1

151199876

+C1orf56chr1

151022914

+
intron-3CDSENST00000414290ENST00000368926PIP5K1Achr1

151199876

+C1orf56chr1

151022914

+
intron-3UTRENST00000414290ENST00000465135PIP5K1Achr1

151199876

+C1orf56chr1

151022914

+

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FusionProtFeatures for PIP5K1A_C1orf56


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PIP5K1A

Q99755

C1orf56

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}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 PIP5K1A_C1orf56


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 PIP5K1A_C1orf56


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
PIP5K1APIP5KL1, APP, CSNK1A1, SIRT1, HECW2, ITGB1BP2, MOV10, NXF1, KCTD17, RABGGTB, SKAP1, GFOD1, FLNC, PIP5K1C, DCAF5, NRP1, RAD21, CENPB, NRXN3, PELP1, HTATSF1, STAG2, GPC3, TRIM41, TGFBR3, MED4, MYH9, RPL10, RHOU, PIP4K2A, PRKCA, IMPDH1, CCDC97, PFDN2, GPR156, CAMK2D, ARIH1, ARHGAP22, KLHDC3, ZSCAN31, ZC3H18, AHCYL2, KBTBD7, TRIM25C1orf56


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 PIP5K1A_C1orf56


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 PIP5K1A_C1orf56


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