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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:BPHL-TRPV1 (FusionGDB2 ID:HG670TG7442)

Fusion Gene Summary for BPHL-TRPV1

check button Fusion gene summary
Fusion gene informationFusion gene name: BPHL-TRPV1
Fusion gene ID: hg670tg7442
HgeneTgene
Gene symbol

BPHL

TRPV1

Gene ID

670

7442

Gene namebiphenyl hydrolase liketransient receptor potential cation channel subfamily V member 1
SynonymsBPH-RP|MCNAA|VACVASEVR1
Cytomap('BPHL')('TRPV1')

6p25.2

17p13.2

Type of geneprotein-codingprotein-coding
Descriptionvalacyclovir hydrolasebiphenyl hydrolase-like (serine hydrolase)biphenyl hydrolase-related proteinbreast epithelial mucin-associated antigenvalacyclovirasetransient receptor potential cation channel subfamily V member 1OTRPC1capsaicin receptorosm-9-like TRP channel 1transient receptor potential vanilloid 1atransient receptor potential vanilloid 1bvanilloid receptor subtype 1
Modification date2020031320200315
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000380379, ENST00000380368, 
ENST00000380375, ENST00000434640, 
ENST00000464040, 
Fusion gene scores* DoF score5 X 3 X 3=453 X 4 X 3=36
# samples 43
** MAII scorelog2(4/45*10)=-0.169925001442312
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/36*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BPHL [Title/Abstract] AND TRPV1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBPHL(3119081)-TRPV1(3495677), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneTRPV1

GO:0034605

cellular response to heat

11226139

TgeneTRPV1

GO:0050955

thermoception

10201375

TgeneTRPV1

GO:0071468

cellular response to acidic pH

11226139

TgeneTRPV1

GO:0098703

calcium ion import across plasma membrane

11226139



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-BR-8080-01ABPHLchr6

3119081

+TRPV1chr17

3495677

-


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Fusion Gene ORF analysis for BPHL-TRPV1

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-5UTRENST00000380379ENST00000174621BPHLchr6

3119081

+TRPV1chr17

3495677

-
5CDS-5UTRENST00000380379ENST00000399756BPHLchr6

3119081

+TRPV1chr17

3495677

-
5CDS-5UTRENST00000380379ENST00000399759BPHLchr6

3119081

+TRPV1chr17

3495677

-
5CDS-5UTRENST00000380379ENST00000571088BPHLchr6

3119081

+TRPV1chr17

3495677

-
5CDS-intronENST00000380379ENST00000310522BPHLchr6

3119081

+TRPV1chr17

3495677

-
5CDS-intronENST00000380379ENST00000425167BPHLchr6

3119081

+TRPV1chr17

3495677

-
5CDS-intronENST00000380379ENST00000576351BPHLchr6

3119081

+TRPV1chr17

3495677

-
5UTR-5UTRENST00000380368ENST00000174621BPHLchr6

3119081

+TRPV1chr17

3495677

-
5UTR-5UTRENST00000380368ENST00000399756BPHLchr6

3119081

+TRPV1chr17

3495677

-
5UTR-5UTRENST00000380368ENST00000399759BPHLchr6

3119081

+TRPV1chr17

3495677

-
5UTR-5UTRENST00000380368ENST00000571088BPHLchr6

3119081

+TRPV1chr17

3495677

-
5UTR-5UTRENST00000380375ENST00000174621BPHLchr6

3119081

+TRPV1chr17

3495677

-
5UTR-5UTRENST00000380375ENST00000399756BPHLchr6

3119081

+TRPV1chr17

3495677

-
5UTR-5UTRENST00000380375ENST00000399759BPHLchr6

3119081

+TRPV1chr17

3495677

-
5UTR-5UTRENST00000380375ENST00000571088BPHLchr6

3119081

+TRPV1chr17

3495677

-
5UTR-intronENST00000380368ENST00000310522BPHLchr6

3119081

+TRPV1chr17

3495677

-
5UTR-intronENST00000380368ENST00000425167BPHLchr6

3119081

+TRPV1chr17

3495677

-
5UTR-intronENST00000380368ENST00000576351BPHLchr6

3119081

+TRPV1chr17

3495677

-
5UTR-intronENST00000380375ENST00000310522BPHLchr6

3119081

+TRPV1chr17

3495677

-
5UTR-intronENST00000380375ENST00000425167BPHLchr6

3119081

+TRPV1chr17

3495677

-
5UTR-intronENST00000380375ENST00000576351BPHLchr6

3119081

+TRPV1chr17

3495677

-
intron-5UTRENST00000434640ENST00000174621BPHLchr6

3119081

+TRPV1chr17

3495677

-
intron-5UTRENST00000434640ENST00000399756BPHLchr6

3119081

+TRPV1chr17

3495677

-
intron-5UTRENST00000434640ENST00000399759BPHLchr6

3119081

+TRPV1chr17

3495677

-
intron-5UTRENST00000434640ENST00000571088BPHLchr6

3119081

+TRPV1chr17

3495677

-
intron-5UTRENST00000464040ENST00000174621BPHLchr6

3119081

+TRPV1chr17

3495677

-
intron-5UTRENST00000464040ENST00000399756BPHLchr6

3119081

+TRPV1chr17

3495677

-
intron-5UTRENST00000464040ENST00000399759BPHLchr6

3119081

+TRPV1chr17

3495677

-
intron-5UTRENST00000464040ENST00000571088BPHLchr6

3119081

+TRPV1chr17

3495677

-
intron-intronENST00000434640ENST00000310522BPHLchr6

3119081

+TRPV1chr17

3495677

-
intron-intronENST00000434640ENST00000425167BPHLchr6

3119081

+TRPV1chr17

3495677

-
intron-intronENST00000434640ENST00000576351BPHLchr6

3119081

+TRPV1chr17

3495677

-
intron-intronENST00000464040ENST00000310522BPHLchr6

3119081

+TRPV1chr17

3495677

-
intron-intronENST00000464040ENST00000425167BPHLchr6

3119081

+TRPV1chr17

3495677

-
intron-intronENST00000464040ENST00000576351BPHLchr6

3119081

+TRPV1chr17

3495677

-

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

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Fusion Genomic Features for BPHL-TRPV1


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)


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Fusion Protein Features for BPHL-TRPV1


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/:3119081/:3495677)
- 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


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Fusion Gene Sequence for BPHL-TRPV1


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.

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Fusion Gene PPI Analysis for BPHL-TRPV1


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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Related Drugs for BPHL-TRPV1


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

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Related Diseases for BPHL-TRPV1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0020429Hyperalgesia4CTD_human
TgeneC0030193Pain4CTD_human
TgeneC0234230Pain, Burning4CTD_human
TgeneC0234238Ache4CTD_human
TgeneC0234254Radiating pain4CTD_human
TgeneC0458247Allodynia4CTD_human
TgeneC0458257Pain, Splitting4CTD_human
TgeneC0458259Pain, Crushing4CTD_human
TgeneC0751211Hyperalgesia, Primary4CTD_human
TgeneC0751212Hyperalgesia, Secondary4CTD_human
TgeneC0751213Tactile Allodynia4CTD_human
TgeneC0751214Hyperalgesia, Thermal4CTD_human
TgeneC0751407Pain, Migratory4CTD_human
TgeneC0751408Suffering, Physical4CTD_human
TgeneC2936719Mechanical Allodynia4CTD_human
TgeneC0021368Inflammation2CTD_human
TgeneC0004153Atherosclerosis1CTD_human
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneC0005695Bladder Neoplasm1CTD_human
TgeneC0006826Malignant Neoplasms1CTD_human
TgeneC0010200Coughing1CTD_human
TgeneC0014556Epilepsy, Temporal Lobe1CTD_human
TgeneC0014558Uncinate Epilepsy1CTD_human
TgeneC0014852Esophageal Diseases1CTD_human
TgeneC0014868Esophagitis1CTD_human
TgeneC0018834Heartburn1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0027651Neoplasms1CTD_human
TgeneC0028754Obesity1CTD_human
TgeneC0030305Pancreatitis1CTD_human
TgeneC0037383Sneezing1CTD_human
TgeneC0086692Benign Neoplasm1CTD_human
TgeneC0393672Epilepsy, Benign Psychomotor, Childhood1CTD_human
TgeneC0393682Epilepsy, Lateral Temporal1CTD_human
TgeneC1563937Atherogenesis1CTD_human