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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-BPHL (FusionGDB2 ID:10057)

Fusion Gene Summary for BPHL-BPHL

check button Fusion gene summary
Fusion gene informationFusion gene name: BPHL-BPHL
Fusion gene ID: 10057
HgeneTgene
Gene symbol

BPHL

BPHL

Gene ID

670

670

Gene namebiphenyl hydrolase likebiphenyl hydrolase like
SynonymsBPH-RP|MCNAA|VACVASEBPH-RP|MCNAA|VACVASE
Cytomap

6p25.2

6p25.2

Type of geneprotein-codingprotein-coding
Descriptionvalacyclovir hydrolasebiphenyl hydrolase-like (serine hydrolase)biphenyl hydrolase-related proteinbreast epithelial mucin-associated antigenvalacyclovirasevalacyclovir hydrolasebiphenyl hydrolase-like (serine hydrolase)biphenyl hydrolase-related proteinbreast epithelial mucin-associated antigenvalacyclovirase
Modification date2020031320200313
UniProtAcc

Q86WA6

Q86WA6

Ensembl transtripts involved in fusion geneENST00000380368, ENST00000380375, 
ENST00000380379, ENST00000434640, 
ENST00000464040, 		ENST00000380368, 
ENST00000380375, ENST00000380379, 
ENST00000434640, ENST00000464040, 
Fusion gene scores* DoF score5 X 3 X 3=453 X 3 X 2=18
# samples 43
** MAII scorelog2(4/45*10)=-0.169925001442312
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

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

Most frequent breakpointBPHL(3118961)-BPHL(3127582), # samples:4
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

check buttonFusion gene breakpoints across BPHL (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across BPHL (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChiTaRS5.0N/AAI222926BPHLchr6

3118961

-BPHLchr6

3127582

+
ChiTaRS5.0N/AAI701823BPHLchr6

3118961

-BPHLchr6

3127582

+
ChiTaRS5.0N/ABE671194BPHLchr6

3118961

-BPHLchr6

3127582

+
ChiTaRS5.0N/ABF448366BPHLchr6

3118961

-BPHLchr6

3127582

+


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Fusion Gene ORF analysis for BPHL-BPHL

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
5UTR-3CDSENST00000380368ENST00000380368BPHLchr6

3118961

-BPHLchr6

3127582

+
5UTR-3CDSENST00000380368ENST00000380375BPHLchr6

3118961

-BPHLchr6

3127582

+
5UTR-3CDSENST00000380368ENST00000380379BPHLchr6

3118961

-BPHLchr6

3127582

+
5UTR-3CDSENST00000380368ENST00000434640BPHLchr6

3118961

-BPHLchr6

3127582

+
5UTR-3CDSENST00000380375ENST00000380368BPHLchr6

3118961

-BPHLchr6

3127582

+
5UTR-3CDSENST00000380375ENST00000380375BPHLchr6

3118961

-BPHLchr6

3127582

+
5UTR-3CDSENST00000380375ENST00000380379BPHLchr6

3118961

-BPHLchr6

3127582

+
5UTR-3CDSENST00000380375ENST00000434640BPHLchr6

3118961

-BPHLchr6

3127582

+
5UTR-3CDSENST00000380379ENST00000380368BPHLchr6

3118961

-BPHLchr6

3127582

+
5UTR-3CDSENST00000380379ENST00000380375BPHLchr6

3118961

-BPHLchr6

3127582

+
5UTR-3CDSENST00000380379ENST00000380379BPHLchr6

3118961

-BPHLchr6

3127582

+
5UTR-3CDSENST00000380379ENST00000434640BPHLchr6

3118961

-BPHLchr6

3127582

+
5UTR-intronENST00000380368ENST00000464040BPHLchr6

3118961

-BPHLchr6

3127582

+
5UTR-intronENST00000380375ENST00000464040BPHLchr6

3118961

-BPHLchr6

3127582

+
5UTR-intronENST00000380379ENST00000464040BPHLchr6

3118961

-BPHLchr6

3127582

+
intron-3CDSENST00000434640ENST00000380368BPHLchr6

3118961

-BPHLchr6

3127582

+
intron-3CDSENST00000434640ENST00000380375BPHLchr6

3118961

-BPHLchr6

3127582

+
intron-3CDSENST00000434640ENST00000380379BPHLchr6

3118961

-BPHLchr6

3127582

+
intron-3CDSENST00000434640ENST00000434640BPHLchr6

3118961

-BPHLchr6

3127582

+
intron-3CDSENST00000464040ENST00000380368BPHLchr6

3118961

-BPHLchr6

3127582

+
intron-3CDSENST00000464040ENST00000380375BPHLchr6

3118961

-BPHLchr6

3127582

+
intron-3CDSENST00000464040ENST00000380379BPHLchr6

3118961

-BPHLchr6

3127582

+
intron-3CDSENST00000464040ENST00000434640BPHLchr6

3118961

-BPHLchr6

3127582

+
intron-intronENST00000434640ENST00000464040BPHLchr6

3118961

-BPHLchr6

3127582

+
intron-intronENST00000464040ENST00000464040BPHLchr6

3118961

-BPHLchr6

3127582

+

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-BPHL


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

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.

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Fusion Protein Features for BPHL-BPHL


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/:3118961/:3127582)
- 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
BPHL

Q86WA6

BPHL

Q86WA6

FUNCTION: Serine hydrolase that catalyzes the hydrolytic activation of amino acid ester prodrugs of nucleoside analogs such as valacyclovir and valganciclovir. Activates valacyclovir to acyclovir. May play a role in detoxification processes. It is a specific alpha-amino acid ester hydrolase that prefers small, hydrophobic, and aromatic side chains and does not have a stringent requirement for the leaving group other than preferring a primary alcohol. {ECO:0000269|PubMed:18256025}.FUNCTION: Serine hydrolase that catalyzes the hydrolytic activation of amino acid ester prodrugs of nucleoside analogs such as valacyclovir and valganciclovir. Activates valacyclovir to acyclovir. May play a role in detoxification processes. It is a specific alpha-amino acid ester hydrolase that prefers small, hydrophobic, and aromatic side chains and does not have a stringent requirement for the leaving group other than preferring a primary alcohol. {ECO:0000269|PubMed:18256025}.

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-BPHL


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-BPHL


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-BPHL


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-BPHL


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