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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: 4324

FusionGeneSummary for BPHL_MFSD9

check button Fusion gene summary
Fusion gene informationFusion gene name: BPHL_MFSD9
Fusion gene ID: 4324
HgeneTgene
Gene symbol

BPHL

MFSD9

Gene ID

670

84804

Gene namebiphenyl hydrolase likemajor facilitator superfamily domain containing 9
SynonymsBPH-RP|MCNAA|VACVASE-
Cytomap

6p25.2

2q12.1

Type of geneprotein-codingprotein-coding
Descriptionvalacyclovir hydrolasebiphenyl hydrolase-like (serine hydrolase)biphenyl hydrolase-related proteinbreast epithelial mucin-associated antigenvalacyclovirasemajor facilitator superfamily domain-containing protein 9
Modification date2018051920180523
UniProtAcc

Q86WA6

Q8NBP5

Ensembl transtripts involved in fusion geneENST00000434640, ENST00000380368, 
ENST00000380375, ENST00000380379, 
ENST00000464040, 
ENST00000496253, 
ENST00000258436, 
Fusion gene scores* DoF score3 X 3 X 2=181 X 1 X 1=1
# samples 61
** MAII scorelog2(6/18*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: BPHL [Title/Abstract] AND MFSD9 [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

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
ChiTaRS3.1AW082286BPHLchr6

3152995

-MFSD9chr2

103334117

+
* 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
intron-intronENST00000434640ENST00000496253BPHLchr6

3152995

-MFSD9chr2

103334117

+
intron-3UTRENST00000434640ENST00000258436BPHLchr6

3152995

-MFSD9chr2

103334117

+
3UTR-intronENST00000380368ENST00000496253BPHLchr6

3152995

-MFSD9chr2

103334117

+
3UTR-3UTRENST00000380368ENST00000258436BPHLchr6

3152995

-MFSD9chr2

103334117

+
3UTR-intronENST00000380375ENST00000496253BPHLchr6

3152995

-MFSD9chr2

103334117

+
3UTR-3UTRENST00000380375ENST00000258436BPHLchr6

3152995

-MFSD9chr2

103334117

+
3UTR-intronENST00000380379ENST00000496253BPHLchr6

3152995

-MFSD9chr2

103334117

+
3UTR-3UTRENST00000380379ENST00000258436BPHLchr6

3152995

-MFSD9chr2

103334117

+
3UTR-intronENST00000464040ENST00000496253BPHLchr6

3152995

-MFSD9chr2

103334117

+
3UTR-3UTRENST00000464040ENST00000258436BPHLchr6

3152995

-MFSD9chr2

103334117

+

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FusionProtFeatures for BPHL_MFSD9


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

Q86WA6

MFSD9

Q8NBP5

Serine hydrolase that catalyzes the hydrolyticactivation of amino acid ester prodrugs of nucleoside analogs suchas valacyclovir and valganciclovir. Activates valacyclovir toacyclovir. May play a role in detoxification processes. It is aspecific alpha-amino acid ester hydrolase that prefers small,hydrophobic, and aromatic side chains and does not have astringent requirement for the leaving group other than preferringa 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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FusionGeneSequence for BPHL_MFSD9


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 BPHL_MFSD9


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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RelatedDrugs for BPHL_MFSD9


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 BPHL_MFSD9


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