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:ARHGEF7-BPTF (FusionGDB2 ID:HG8874TG2186)

Fusion Gene Summary for ARHGEF7-BPTF

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGEF7-BPTF
Fusion gene ID: hg8874tg2186
HgeneTgene
Gene symbol

ARHGEF7

BPTF

Gene ID

8874

2186

Gene nameRho guanine nucleotide exchange factor 7bromodomain PHD finger transcription factor
SynonymsBETA-PIX|COOL-1|COOL1|Nbla10314|P50|P50BP|P85|P85COOL1|P85SPR|PAK3|PIXBFAC1|FALZ|NEDDFL|NURF301
Cytomap('ARHGEF7')('BPTF')

13q34

17q24.2

Type of geneprotein-codingprotein-coding
Descriptionrho guanine nucleotide exchange factor 7PAK-interacting exchange factor betaRho guanine nucleotide exchange factor (GEF) 7SH3 domain-containing proline-rich proteinnucleosome-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 date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000317133, ENST00000375737, 
ENST00000375739, ENST00000375741, 
ENST00000218789, ENST00000375723, 
ENST00000375736, ENST00000426073, 
ENST00000544132, ENST00000370623, 
ENST00000478679, ENST00000483189, 
Fusion gene scores* DoF score25 X 17 X 12=510023 X 23 X 6=3174
# samples 2626
** MAII scorelog2(26/5100*10)=-4.29391371871777
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(26/3174*10)=-3.60971859980673
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARHGEF7 [Title/Abstract] AND BPTF [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARHGEF7(111857720)-BPTF(65899905), # samples:1
Anticipated loss of major functional domain due to fusion event.ARHGEF7-BPTF seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ARHGEF7-BPTF seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
ARHGEF7-BPTF seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
ARHGEF7-BPTF seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ARHGEF7-BPTF seems lost the major protein functional domain in Tgene partner, which is a transcription factor 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
HgeneARHGEF7

GO:0043547

positive regulation of GTPase activity

21048939

TgeneBPTF

GO:0000122

negative regulation of transcription by RNA polymerase II

10727212

TgeneBPTF

GO:0006338

chromatin remodeling

14609955



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
ChimerDB4STADTCGA-EQ-A4SO-01AARHGEF7chr13

111857720

+BPTFchr17

65899905

+


Top

Fusion Gene ORF analysis for ARHGEF7-BPTF

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-intronENST00000317133ENST00000577770ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5CDS-intronENST00000375737ENST00000577770ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5CDS-intronENST00000375739ENST00000577770ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5CDS-intronENST00000375741ENST00000577770ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-3CDSENST00000218789ENST00000306378ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-3CDSENST00000218789ENST00000321892ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-3CDSENST00000218789ENST00000335221ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-3CDSENST00000218789ENST00000424123ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-3CDSENST00000375723ENST00000306378ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-3CDSENST00000375723ENST00000321892ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-3CDSENST00000375723ENST00000335221ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-3CDSENST00000375723ENST00000424123ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-3CDSENST00000375736ENST00000306378ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-3CDSENST00000375736ENST00000321892ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-3CDSENST00000375736ENST00000335221ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-3CDSENST00000375736ENST00000424123ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-3CDSENST00000426073ENST00000306378ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-3CDSENST00000426073ENST00000321892ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-3CDSENST00000426073ENST00000335221ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-3CDSENST00000426073ENST00000424123ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-3CDSENST00000544132ENST00000306378ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-3CDSENST00000544132ENST00000321892ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-3CDSENST00000544132ENST00000335221ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-3CDSENST00000544132ENST00000424123ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-intronENST00000218789ENST00000577770ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-intronENST00000375723ENST00000577770ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-intronENST00000375736ENST00000577770ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-intronENST00000426073ENST00000577770ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
5UTR-intronENST00000544132ENST00000577770ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
Frame-shiftENST00000317133ENST00000306378ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
Frame-shiftENST00000317133ENST00000321892ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
Frame-shiftENST00000317133ENST00000335221ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
Frame-shiftENST00000317133ENST00000424123ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
Frame-shiftENST00000375737ENST00000306378ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
Frame-shiftENST00000375737ENST00000321892ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
Frame-shiftENST00000375737ENST00000335221ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
Frame-shiftENST00000375737ENST00000424123ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
Frame-shiftENST00000375739ENST00000306378ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
Frame-shiftENST00000375739ENST00000321892ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
Frame-shiftENST00000375739ENST00000335221ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
Frame-shiftENST00000375739ENST00000424123ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
Frame-shiftENST00000375741ENST00000306378ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
Frame-shiftENST00000375741ENST00000321892ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
Frame-shiftENST00000375741ENST00000335221ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
Frame-shiftENST00000375741ENST00000424123ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
intron-3CDSENST00000370623ENST00000306378ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
intron-3CDSENST00000370623ENST00000321892ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
intron-3CDSENST00000370623ENST00000335221ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
intron-3CDSENST00000370623ENST00000424123ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
intron-3CDSENST00000478679ENST00000306378ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
intron-3CDSENST00000478679ENST00000321892ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
intron-3CDSENST00000478679ENST00000335221ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
intron-3CDSENST00000478679ENST00000424123ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
intron-3CDSENST00000483189ENST00000306378ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
intron-3CDSENST00000483189ENST00000321892ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
intron-3CDSENST00000483189ENST00000335221ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
intron-3CDSENST00000483189ENST00000424123ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
intron-intronENST00000370623ENST00000577770ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
intron-intronENST00000478679ENST00000577770ARHGEF7chr13

111857720

+BPTFchr17

65899905

+
intron-intronENST00000483189ENST00000577770ARHGEF7chr13

111857720

+BPTFchr17

65899905

+

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 ARHGEF7-BPTF


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)
ARHGEF7chr13111857720+BPTFchr1765899904+3.04E-050.9999696
ARHGEF7chr13111857720+BPTFchr1765899904+3.04E-050.9999696


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 ARHGEF7-BPTF


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/:111857720/:65899905)
- 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 ARHGEF7-BPTF


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 ARHGEF7-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


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 ARHGEF7-BPTF


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 ARHGEF7-BPTF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneC0005695Bladder Neoplasm1CTD_human
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneC4540327NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES1GENOMICS_ENGLAND;UNIPROT