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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: 27048

FusionGeneSummary for PI4K2A_PFDN5

check button Fusion gene summary
Fusion gene informationFusion gene name: PI4K2A_PFDN5
Fusion gene ID: 27048
HgeneTgene
Gene symbol

PI4K2A

PFDN5

Gene ID

55361

5204

Gene namephosphatidylinositol 4-kinase type 2 alphaprefoldin subunit 5
SynonymsPI4KII|PIK42AMM-1|MM1|PFD5
Cytomap

10q24.2

12q13.13

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylinositol 4-kinase type 2-alphaphosphatidylinositol 4-kinase type II (PI4KII)phosphatidylinositol 4-kinase type II-alphaprefoldin subunit 5c-myc binding proteinmyc modulator-1
Modification date2018052320180523
UniProtAcc

Q9BTU6

Q99471

Ensembl transtripts involved in fusion geneENST00000555577, ENST00000370649, 
ENST00000370631, 
ENST00000551018, 
ENST00000351500, ENST00000550846, 
ENST00000334478, 
Fusion gene scores* DoF score5 X 5 X 4=1003 X 3 X 2=18
# samples 53
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PI4K2A [Title/Abstract] AND PFDN5 [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
HgenePI4K2A

GO:0006661

phosphatidylinositol biosynthetic process

11279162

HgenePI4K2A

GO:0046854

phosphatidylinositol phosphorylation

25168678


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
ChiTaRS3.1CA307215PI4K2Achr10

99435289

-PFDN5chr12

53693162

-
* 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-3UTRENST00000555577ENST00000551018PI4K2Achr10

99435289

-PFDN5chr12

53693162

-
intron-3UTRENST00000555577ENST00000351500PI4K2Achr10

99435289

-PFDN5chr12

53693162

-
intron-3UTRENST00000555577ENST00000550846PI4K2Achr10

99435289

-PFDN5chr12

53693162

-
intron-3UTRENST00000555577ENST00000334478PI4K2Achr10

99435289

-PFDN5chr12

53693162

-
intron-3UTRENST00000370649ENST00000551018PI4K2Achr10

99435289

-PFDN5chr12

53693162

-
intron-3UTRENST00000370649ENST00000351500PI4K2Achr10

99435289

-PFDN5chr12

53693162

-
intron-3UTRENST00000370649ENST00000550846PI4K2Achr10

99435289

-PFDN5chr12

53693162

-
intron-3UTRENST00000370649ENST00000334478PI4K2Achr10

99435289

-PFDN5chr12

53693162

-
3UTR-3UTRENST00000370631ENST00000551018PI4K2Achr10

99435289

-PFDN5chr12

53693162

-
3UTR-3UTRENST00000370631ENST00000351500PI4K2Achr10

99435289

-PFDN5chr12

53693162

-
3UTR-3UTRENST00000370631ENST00000550846PI4K2Achr10

99435289

-PFDN5chr12

53693162

-
3UTR-3UTRENST00000370631ENST00000334478PI4K2Achr10

99435289

-PFDN5chr12

53693162

-

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FusionProtFeatures for PI4K2A_PFDN5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PI4K2A

Q9BTU6

PFDN5

Q99471

Membrane-bound phosphatidylinositol-4 kinase (PI4-kinase) that catalyzes the phosphorylation of phosphatidylinositol(PI) to phosphatidylinositol 4-phosphate (PI4P), a lipid thatplays important roles in endocytosis, Golgi function, proteinsorting and membrane trafficking and is required for prolongedsurvival of neurons. Besides, phosphorylation ofphosphatidylinositol (PI) to phosphatidylinositol 4-phosphate(PI4P) is the first committed step in the generation ofphosphatidylinositol 4,5-bisphosphate (PIP2), a precursor of thesecond messenger inositol 1,4,5-trisphosphate (InsP3).{ECO:0000269|PubMed:11279162, ECO:0000269|PubMed:16443754,ECO:0000269|PubMed:20388919, ECO:0000269|PubMed:23146885,ECO:0000269|PubMed:24675427, ECO:0000269|PubMed:25168678,ECO:0000305}. Binds specifically to cytosolic chaperonin (c-CPN) andtransfers target proteins to it. Binds to nascent polypeptidechain and promotes folding in an environment in which there aremany competing pathways for nonnative proteins. Represses thetranscriptional activity of MYC. {ECO:0000269|PubMed:9630229}.

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 PI4K2A_PFDN5


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 PI4K2A_PFDN5


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 PI4K2A_PFDN5


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 PI4K2A_PFDN5


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