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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: 4344

FusionGeneSummary for BPTF_PIP4K2B

check button Fusion gene summary
Fusion gene informationFusion gene name: BPTF_PIP4K2B
Fusion gene ID: 4344
HgeneTgene
Gene symbol

BPTF

PIP4K2B

Gene ID

2186

8396

Gene namebromodomain PHD finger transcription factorphosphatidylinositol-5-phosphate 4-kinase type 2 beta
SynonymsFAC1|FALZ|NEDDFL|NURF301PI5P4KB|PIP5K2B|PIP5KIIB|PIP5KIIbeta|PIP5P4KB
Cytomap

17q24.2

17q12

Type of geneprotein-codingprotein-coding
Descriptionnucleosome-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 fphosphatidylinositol 5-phosphate 4-kinase type-2 beta1-phosphatidylinositol 5-phosphate 4-kinase 2-beta1-phosphatidylinositol-4-phosphate kinasePI(5)P 4-kinase type II betaPIP4KII-betaPTDINS(4)P-5-kinasediphosphoinositide kinase 2-betaphosphatidyli
Modification date2018051920180519
UniProtAcc

Q12830

P78356

Ensembl transtripts involved in fusion geneENST00000335221, ENST00000321892, 
ENST00000306378, ENST00000424123, 
ENST00000577770, 
ENST00000269554, 
ENST00000311500, 
Fusion gene scores* DoF score20 X 16 X 10=32007 X 6 X 4=168
# samples 259
** MAII scorelog2(25/3200*10)=-3.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/168*10)=-0.900464326449086
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BPTF [Title/Abstract] AND PIP4K2B [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
HgeneBPTF

GO:0000122

negative regulation of transcription by RNA polymerase II

10727212

HgeneBPTF

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
TCGARVBRCATCGA-C8-A12P-01ABPTFchr17

65822453

+PIP4K2Bchr17

36943173

-
* 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-shiftENST00000335221ENST00000269554BPTFchr17

65822453

+PIP4K2Bchr17

36943173

-
5CDS-5UTRENST00000335221ENST00000311500BPTFchr17

65822453

+PIP4K2Bchr17

36943173

-
Frame-shiftENST00000321892ENST00000269554BPTFchr17

65822453

+PIP4K2Bchr17

36943173

-
5CDS-5UTRENST00000321892ENST00000311500BPTFchr17

65822453

+PIP4K2Bchr17

36943173

-
Frame-shiftENST00000306378ENST00000269554BPTFchr17

65822453

+PIP4K2Bchr17

36943173

-
5CDS-5UTRENST00000306378ENST00000311500BPTFchr17

65822453

+PIP4K2Bchr17

36943173

-
Frame-shiftENST00000424123ENST00000269554BPTFchr17

65822453

+PIP4K2Bchr17

36943173

-
5CDS-5UTRENST00000424123ENST00000311500BPTFchr17

65822453

+PIP4K2Bchr17

36943173

-
intron-3CDSENST00000577770ENST00000269554BPTFchr17

65822453

+PIP4K2Bchr17

36943173

-
intron-5UTRENST00000577770ENST00000311500BPTFchr17

65822453

+PIP4K2Bchr17

36943173

-

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FusionProtFeatures for BPTF_PIP4K2B


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

Q12830

PIP4K2B

P78356

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. Participates in the biosynthesis of phosphatidylinositol4,5-bisphosphate. {ECO:0000269|PubMed:9038203}.

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 BPTF_PIP4K2B


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 BPTF_PIP4K2B


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
BPTFMAZ, 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, BRCA1PIP4K2BTNFRSF1A, PIP4K2B, SPOP, UBQLN4, MED18, CSNK2A2, HMBOX1, ARL6IP4, EAF1, ZRANB2, EPB41L3, LIN7A, DDX23, MYL9, PRPF8, SKP1, MED4, CLK1, CEP19, PIP4K2A, HIF1AN, LZTS2, ARHGAP22, AHCYL2, GPBP1L1, SPRY4, PRICKLE3, ZNF428, TULP3, TMEM194A, SUN2


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 BPTF_PIP4K2B


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 BPTF_PIP4K2B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBPTFC0005695Bladder Neoplasm1CTD_human