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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: 27225

FusionGeneSummary for PIKFYVE_BPTF

check button Fusion gene summary
Fusion gene informationFusion gene name: PIKFYVE_BPTF
Fusion gene ID: 27225
HgeneTgene
Gene symbol

PIKFYVE

BPTF

Gene ID

200576

2186

Gene namephosphoinositide kinase, FYVE-type zinc finger containingbromodomain PHD finger transcription factor
SynonymsCFD|FAB1|HEL37|PIP5K|PIP5K3|ZFYVE29FAC1|FALZ|NEDDFL|NURF301
Cytomap

2q34

17q24.2

Type of geneprotein-codingprotein-coding
Description1-phosphatidylinositol 3-phosphate 5-kinasePIPkin-IIIepididymis luminal protein 37phosphatidylinositol 3-phosphate 5-kinase type IIIphosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type IIIphosphoinositide kinase, FYVE finger containinnucleosome-remodeling factor subunit BPTFbromodomain and PHD domain transcription factorbromodomain and PHD finger-containing transcription factorfetal Alz-50 clone 1 proteinfetal Alz-50 reactive clone 1fetal Alzheimer antigennucleosome remodeling f
Modification date2018052220180519
UniProtAcc

Q9Y2I7

Q12830

Ensembl transtripts involved in fusion geneENST00000264380, ENST00000392202, 
ENST00000308862, ENST00000407449, 
ENST00000474721, 
ENST00000335221, 
ENST00000321892, ENST00000306378, 
ENST00000424123, ENST00000577770, 
Fusion gene scores* DoF score6 X 5 X 4=12012 X 12 X 4=576
# samples 512
** MAII scorelog2(5/120*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/576*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PIKFYVE [Title/Abstract] AND BPTF [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
TgeneBPTF

GO:0000122

negative regulation of transcription by RNA polymerase II

10727212

TgeneBPTF

GO:0006338

chromatin remodeling

14609955


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
TCGALDBRCATCGA-A8-A09Q-01APIKFYVEchr2

209136415

+BPTFchr17

65924471

+
* 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-shiftENST00000264380ENST00000335221PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
Frame-shiftENST00000264380ENST00000321892PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
Frame-shiftENST00000264380ENST00000306378PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
Frame-shiftENST00000264380ENST00000424123PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
5CDS-intronENST00000264380ENST00000577770PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
Frame-shiftENST00000392202ENST00000335221PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
Frame-shiftENST00000392202ENST00000321892PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
Frame-shiftENST00000392202ENST00000306378PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
Frame-shiftENST00000392202ENST00000424123PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
5CDS-intronENST00000392202ENST00000577770PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
Frame-shiftENST00000308862ENST00000335221PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
Frame-shiftENST00000308862ENST00000321892PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
Frame-shiftENST00000308862ENST00000306378PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
Frame-shiftENST00000308862ENST00000424123PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
5CDS-intronENST00000308862ENST00000577770PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
Frame-shiftENST00000407449ENST00000335221PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
Frame-shiftENST00000407449ENST00000321892PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
Frame-shiftENST00000407449ENST00000306378PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
Frame-shiftENST00000407449ENST00000424123PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
5CDS-intronENST00000407449ENST00000577770PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
intron-3CDSENST00000474721ENST00000335221PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
intron-3CDSENST00000474721ENST00000321892PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
intron-3CDSENST00000474721ENST00000306378PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
intron-3CDSENST00000474721ENST00000424123PIKFYVEchr2

209136415

+BPTFchr17

65924471

+
intron-intronENST00000474721ENST00000577770PIKFYVEchr2

209136415

+BPTFchr17

65924471

+

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FusionProtFeatures for PIKFYVE_BPTF


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

Q9Y2I7

BPTF

Q12830

The PI(3,5)P2 regulatory complex regulates both thesynthesis and turnover of phosphatidylinositol 3,5-bisphosphate(PtdIns(3,5)P2). Catalyzes the phosphorylation ofphosphatidylinositol 3-phosphate on the fifth hydroxyl of the myo-inositol ring, to form phosphatidylinositol 3,5-bisphosphate.Required for endocytic-vacuolar pathway and nuclear migration.Plays a role in the biogenesis of endosome carrier vesicles (ECV)/multivesicular bodies (MVB) transport intermediates from earlyendosomes. {ECO:0000269|PubMed:17556371}. Histone-binding component of NURF (nucleosome-remodelingfactor), a complex which catalyzes ATP-dependent nucleosomesliding and facilitates transcription of chromatin. Specificallyrecognizes H3 tails trimethylated on 'Lys-4' (H3K4me3), which marktranscription start sites of virtually all active genes. May alsoregulate transcription through direct binding to DNA ortranscription factors.

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 PIKFYVE_BPTF


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 PIKFYVE_BPTF


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
PIKFYVERABEPK, VAC14, BCL6, APP, WDR83, FIG4, NTRK1, PTAR1, LCAT, ANK1, TIMM23, CDK5, TRIM25BPTFMAZ, SMAD2, SMAD3, HIST1H3A, SMARCA1, RBBP4, RBBP7, USF1, SQSTM1, H3F3A, SIRT7, HIST1H4I, PGR, KEAP1, HMGXB4, NCOR1, SMARCD2, HIST3H3, CBX6, NFE2L2, C17orf49, CUL7, EED, BUB1, DEK, KIAA1429, SNRNP200, TFAP4, LLGL2, SMC1A, TIMM13, FOXK2, POU5F1, WHSC1L1, EGFR, RFXANK, HSPB7, NCAPH2, DLST, BRCA1


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 PIKFYVE_BPTF


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 PIKFYVE_BPTF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePIKFYVEC1562113Fleck corneal dystrophy1CTD_human;ORPHANET;UNIPROT
TgeneBPTFC0005695Bladder Neoplasm1CTD_human