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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: 27058

FusionGeneSummary for PI4KA_FAM175A

check button Fusion gene summary
Fusion gene informationFusion gene name: PI4KA_FAM175A
Fusion gene ID: 27058
HgeneTgene
Gene symbol

PI4KA

FAM175A

Gene ID

5297

Gene namephosphatidylinositol 4-kinase alpha
SynonymsPI4K-ALPHA|PIK4CA|PMGYCHA|pi4K230
Cytomap

22q11.21

Type of geneprotein-coding
Descriptionphosphatidylinositol 4-kinase alphaPI4-kinase alphaphosphatidylinositol 4-kinase 230phosphatidylinositol 4-kinase III alphaphosphatidylinositol 4-kinase IIII+/-phosphatidylinositol 4-kinase, catalytic, alphaphosphatidylinositol 4-kinase, type III, a
Modification date20180523
UniProtAcc

P42356

Ensembl transtripts involved in fusion geneENST00000255882, ENST00000572273, 
ENST00000414196, ENST00000466162, 
ENST00000505489, ENST00000321945, 
ENST00000506553, ENST00000515303, 
Fusion gene scores* DoF score15 X 8 X 10=12002 X 1 X 2=4
# samples 212
** MAII scorelog2(21/1200*10)=-2.51457317282976
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: PI4KA [Title/Abstract] AND FAM175A [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
HgenePI4KA

GO:0016310

phosphorylation

25327288


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
TCGARVPRADTCGA-VP-A87J-01API4KAchr22

21147481

-FAM175Achr4

84403397

-
* 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
5CDS-5UTRENST00000255882ENST00000505489PI4KAchr22

21147481

-FAM175Achr4

84403397

-
5CDS-5UTRENST00000255882ENST00000321945PI4KAchr22

21147481

-FAM175Achr4

84403397

-
5CDS-5UTRENST00000255882ENST00000506553PI4KAchr22

21147481

-FAM175Achr4

84403397

-
5CDS-5UTRENST00000255882ENST00000515303PI4KAchr22

21147481

-FAM175Achr4

84403397

-
5CDS-5UTRENST00000572273ENST00000505489PI4KAchr22

21147481

-FAM175Achr4

84403397

-
5CDS-5UTRENST00000572273ENST00000321945PI4KAchr22

21147481

-FAM175Achr4

84403397

-
5CDS-5UTRENST00000572273ENST00000506553PI4KAchr22

21147481

-FAM175Achr4

84403397

-
5CDS-5UTRENST00000572273ENST00000515303PI4KAchr22

21147481

-FAM175Achr4

84403397

-
intron-5UTRENST00000414196ENST00000505489PI4KAchr22

21147481

-FAM175Achr4

84403397

-
intron-5UTRENST00000414196ENST00000321945PI4KAchr22

21147481

-FAM175Achr4

84403397

-
intron-5UTRENST00000414196ENST00000506553PI4KAchr22

21147481

-FAM175Achr4

84403397

-
intron-5UTRENST00000414196ENST00000515303PI4KAchr22

21147481

-FAM175Achr4

84403397

-
5UTR-5UTRENST00000466162ENST00000505489PI4KAchr22

21147481

-FAM175Achr4

84403397

-
5UTR-5UTRENST00000466162ENST00000321945PI4KAchr22

21147481

-FAM175Achr4

84403397

-
5UTR-5UTRENST00000466162ENST00000506553PI4KAchr22

21147481

-FAM175Achr4

84403397

-
5UTR-5UTRENST00000466162ENST00000515303PI4KAchr22

21147481

-FAM175Achr4

84403397

-

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FusionProtFeatures for PI4KA_FAM175A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PI4KA

P42356

FAM175A

Acts on phosphatidylinositol (PtdIns) in the firstcommitted step in the production of the second messenger inositol-1,4,5,-trisphosphate. {ECO:0000269|PubMed:10101268,ECO:0000269|PubMed:23229899}. 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 PI4KA_FAM175A


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 PI4KA_FAM175A


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
PI4KASTRN4, LCK, MRPL44, TNNT1, C8orf33, HARS, FN1, VCAM1, ITGA4, CCDC8, CD274, CA14, HLA-B, HLA-C, CD244, TGOLN2, NTRK1, MED4, MED20, SORT1, SYNCRIP, MRPL1, BAG6, FOXL1, NDUFA4, C17orf89, CDH1, PPP3CB, PPP3CC, PI4KAP1, PLBD1, SERPINB7, SERPINB2, KLK5, KLK7, POF1B, A2ML1, CRYAB, SDR9C7, ECM1, JUP, ADH7, TYMP, IVL, HAL, FLG, CDSN, UBR4, OPRM1, RGS20, SERPINA12, RNASE7, SBSN, NEFH, CHRM3, C5AR2, FAM174A, S100A9, CALML3, NPY2R, SDC2, NCCRP1, DSG1, TGM1, SERPINB13, CD83, DSC2, EVPL, DUSP14, LOR, CD79B, MTNR1B, TRIM25FAM175ABRCC3, BRE, BABAM1, UIMC1, UBC, BRCA1, BARD1, HSPA4, SUMO2, MDC1, PAXIP1, FANCG, LAMC1, WTAP, RABGGTB, TEKT4, PARP1, PSMC5, ALDH6A1


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 PI4KA_FAM175A


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 PI4KA_FAM175A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePI4KAC0036341Schizophrenia4PSYGENET
HgenePI4KAC0033975Psychotic Disorders1PSYGENET
HgenePI4KAC0349204Nonorganic psychosis1PSYGENET
HgenePI4KAC4225295POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS1UNIPROT