Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:BPTF-TAOK1 (FusionGDB2 ID:HG2186TG57551)

Fusion Gene Summary for BPTF-TAOK1

check button Fusion gene summary
Fusion gene informationFusion gene name: BPTF-TAOK1
Fusion gene ID: hg2186tg57551
HgeneTgene
Gene symbol

BPTF

TAOK1

Gene ID

2186

57551

Gene namebromodomain PHD finger transcription factorTAO kinase 1
SynonymsFAC1|FALZ|NEDDFL|NURF301KFC-B|MAP3K16|MARKK|PSK-2|PSK2|TAO1|hKFC-B|hTAOK1
Cytomap('BPTF')('TAOK1')

17q24.2

17q11.2

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 fserine/threonine-protein kinase TAO1MARK KinaseSTE20-like kinase PSK2kinase from chicken homolog Bmicrotubule affinity regulating kinase kinaseprostate-derived STE20-like kinase 2prostate-derived sterile 20-like kinase 2serine/threonine protein kin
Modification date2020031320200315
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000306378, ENST00000321892, 
ENST00000335221, ENST00000424123, 
ENST00000577770, 
Fusion gene scores* DoF score27 X 21 X 13=737110 X 11 X 6=660
# samples 4211
** MAII scorelog2(42/7371*10)=-4.1333991254172
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/660*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BPTF [Title/Abstract] AND TAOK1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBPTF(65822453)-TAOK1(27794162), # samples:1
Anticipated loss of major functional domain due to fusion event.BPTF-TAOK1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
BPTF-TAOK1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
BPTF-TAOK1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
BPTF-TAOK1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
BPTF-TAOK1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
BPTF-TAOK1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
BPTF-TAOK1 seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF.
* 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

TgeneTAOK1

GO:0006974

cellular response to DNA damage stimulus

17396146

TgeneTAOK1

GO:0016310

phosphorylation

12639963

TgeneTAOK1

GO:0046330

positive regulation of JNK cascade

16407310

TgeneTAOK1

GO:0097194

execution phase of apoptosis

16407310



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4Non-CancerTCGA-V5-A7RE-11ABPTFchr17

65822453

+TAOK1chr17

27794162

+


Top

Fusion Gene ORF analysis for BPTF-TAOK1

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-shiftENST00000306378ENST00000261716BPTFchr17

65822453

+TAOK1chr17

27794162

+
Frame-shiftENST00000306378ENST00000536202BPTFchr17

65822453

+TAOK1chr17

27794162

+
Frame-shiftENST00000321892ENST00000261716BPTFchr17

65822453

+TAOK1chr17

27794162

+
Frame-shiftENST00000321892ENST00000536202BPTFchr17

65822453

+TAOK1chr17

27794162

+
Frame-shiftENST00000335221ENST00000261716BPTFchr17

65822453

+TAOK1chr17

27794162

+
Frame-shiftENST00000335221ENST00000536202BPTFchr17

65822453

+TAOK1chr17

27794162

+
Frame-shiftENST00000424123ENST00000261716BPTFchr17

65822453

+TAOK1chr17

27794162

+
Frame-shiftENST00000424123ENST00000536202BPTFchr17

65822453

+TAOK1chr17

27794162

+
intron-3CDSENST00000577770ENST00000261716BPTFchr17

65822453

+TAOK1chr17

27794162

+
intron-3CDSENST00000577770ENST00000536202BPTFchr17

65822453

+TAOK1chr17

27794162

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

Top

Fusion Genomic Features for BPTF-TAOK1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
BPTFchr1765822453+TAOK1chr1727794162+3.67E-181
BPTFchr1765822453+TAOK1chr1727794162+3.67E-181


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

Top

Fusion Protein Features for BPTF-TAOK1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:65822453/:27794162)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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


Top

Fusion Gene Sequence for BPTF-TAOK1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

Top

Fusion Gene PPI Analysis for BPTF-TAOK1


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


Top

Related Drugs for BPTF-TAOK1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for BPTF-TAOK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBPTFC0005684Malignant neoplasm of urinary bladder1CTD_human
HgeneBPTFC0005695Bladder Neoplasm1CTD_human
HgeneBPTFC3714756Intellectual Disability1GENOMICS_ENGLAND
HgeneBPTFC4540327NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES1GENOMICS_ENGLAND;UNIPROT
TgeneC0018781Noise-induced hearing loss1CTD_human
TgeneC0424605Developmental delay (disorder)1GENOMICS_ENGLAND
TgeneC0557874Global developmental delay1GENOMICS_ENGLAND
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneC4225275MENTAL RETARDATION, AUTOSOMAL DOMINANT 401GENOMICS_ENGLAND