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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:FRMD6-BPIFB1 (FusionGDB2 ID:31366)

Fusion Gene Summary for FRMD6-BPIFB1

check button Fusion gene summary
Fusion gene informationFusion gene name: FRMD6-BPIFB1
Fusion gene ID: 31366
HgeneTgene
Gene symbol

FRMD6

BPIFB1

Gene ID

122786

92747

Gene nameFERM domain containing 6BPI fold containing family B member 1
SynonymsC14orf31|EX1|Willin|c14_5320C20orf114|LPLUNC1
Cytomap

14q22.1

20q11.21

Type of geneprotein-codingprotein-coding
DescriptionFERM domain-containing protein 64.1 ezrin radixin moesin (FERM)-containing proteinexpanded homologBPI fold-containing family B member 1VEMSGPlong palate, lung and nasal epithelium carcinoma associated 1long palate, lung and nasal epithelium carcinoma-associated protein 1von Ebner minor salivary gland protein
Modification date2020032720200329
UniProtAcc

Q96NE9

Q8TDL5

Ensembl transtripts involved in fusion geneENST00000557103, ENST00000356218, 
ENST00000344768, ENST00000395718, 
ENST00000553556, ENST00000554167, 
ENST00000253354, ENST00000464032, 
Fusion gene scores* DoF score10 X 8 X 7=5605 X 6 X 5=150
# samples 137
** MAII scorelog2(13/560*10)=-2.10691520391651
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/150*10)=-1.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FRMD6 [Title/Abstract] AND BPIFB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFRMD6(52037128)-BPIFB1(31873839), # samples:3
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
TgeneBPIFB1

GO:0002227

innate immune response in mucosa

21900486

TgeneBPIFB1

GO:0034144

negative regulation of toll-like receptor 4 signaling pathway

21900486


check buttonFusion gene breakpoints across FRMD6 (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 BPIFB1 (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
ChimerDB4HNSCTCGA-CQ-6227-01AFRMD6chr14

52037128

-BPIFB1chr20

31873839

+
ChimerDB4HNSCTCGA-CQ-6227-01AFRMD6chr14

52037128

+BPIFB1chr20

31873839

+
ChimerDB4HNSCTCGA-CQ-6227FRMD6chr14

51956138

+BPIFB1chr20

31873839

+
ChimerDB4HNSCTCGA-CQ-6227FRMD6chr14

52037128

+BPIFB1chr20

31866128

+
ChimerDB4HNSCTCGA-CQ-6227FRMD6chr14

52037128

+BPIFB1chr20

31869050

+
ChimerDB4HNSCTCGA-CQ-6227FRMD6chr14

52037128

+BPIFB1chr20

31873838

+
ChimerDB4HNSCTCGA-CQ-6227FRMD6chr14

52037128

+BPIFB1chr20

31873839

+


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Fusion Gene ORF analysis for FRMD6-BPIFB1

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
3UTR-5UTRENST00000557103ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31873839

+
3UTR-5UTRENST00000557103ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31873838

+
3UTR-intronENST00000557103ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31866128

+
3UTR-intronENST00000557103ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31869050

+
3UTR-intronENST00000557103ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31873839

+
3UTR-intronENST00000557103ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31866128

+
3UTR-intronENST00000557103ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31869050

+
3UTR-intronENST00000557103ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31873838

+
5UTR-5UTRENST00000356218ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31873839

+
5UTR-5UTRENST00000356218ENST00000253354FRMD6chr14

51956138

+BPIFB1chr20

31873839

+
5UTR-5UTRENST00000356218ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31873838

+
5UTR-intronENST00000356218ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31866128

+
5UTR-intronENST00000356218ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31869050

+
5UTR-intronENST00000356218ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31873839

+
5UTR-intronENST00000356218ENST00000464032FRMD6chr14

51956138

+BPIFB1chr20

31873839

+
5UTR-intronENST00000356218ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31866128

+
5UTR-intronENST00000356218ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31869050

+
5UTR-intronENST00000356218ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31873838

+
intron-5UTRENST00000344768ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31873839

+
intron-5UTRENST00000344768ENST00000253354FRMD6chr14

51956138

+BPIFB1chr20

31873839

+
intron-5UTRENST00000344768ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31873838

+
intron-5UTRENST00000395718ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31873839

+
intron-5UTRENST00000395718ENST00000253354FRMD6chr14

51956138

+BPIFB1chr20

31873839

+
intron-5UTRENST00000395718ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31873838

+
intron-5UTRENST00000553556ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31873839

+
intron-5UTRENST00000553556ENST00000253354FRMD6chr14

51956138

+BPIFB1chr20

31873839

+
intron-5UTRENST00000553556ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31873838

+
intron-5UTRENST00000554167ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31873839

+
intron-5UTRENST00000554167ENST00000253354FRMD6chr14

51956138

+BPIFB1chr20

31873839

+
intron-5UTRENST00000554167ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31873838

+
intron-5UTRENST00000557103ENST00000253354FRMD6chr14

51956138

+BPIFB1chr20

31873839

+
intron-intronENST00000344768ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31866128

+
intron-intronENST00000344768ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31869050

+
intron-intronENST00000344768ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31873839

+
intron-intronENST00000344768ENST00000464032FRMD6chr14

51956138

+BPIFB1chr20

31873839

+
intron-intronENST00000344768ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31866128

+
intron-intronENST00000344768ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31869050

+
intron-intronENST00000344768ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31873838

+
intron-intronENST00000395718ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31866128

+
intron-intronENST00000395718ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31869050

+
intron-intronENST00000395718ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31873839

+
intron-intronENST00000395718ENST00000464032FRMD6chr14

51956138

+BPIFB1chr20

31873839

+
intron-intronENST00000395718ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31866128

+
intron-intronENST00000395718ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31869050

+
intron-intronENST00000395718ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31873838

+
intron-intronENST00000553556ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31866128

+
intron-intronENST00000553556ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31869050

+
intron-intronENST00000553556ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31873839

+
intron-intronENST00000553556ENST00000464032FRMD6chr14

51956138

+BPIFB1chr20

31873839

+
intron-intronENST00000553556ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31866128

+
intron-intronENST00000553556ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31869050

+
intron-intronENST00000553556ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31873838

+
intron-intronENST00000554167ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31866128

+
intron-intronENST00000554167ENST00000253354FRMD6chr14

52037128

+BPIFB1chr20

31869050

+
intron-intronENST00000554167ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31873839

+
intron-intronENST00000554167ENST00000464032FRMD6chr14

51956138

+BPIFB1chr20

31873839

+
intron-intronENST00000554167ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31866128

+
intron-intronENST00000554167ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31869050

+
intron-intronENST00000554167ENST00000464032FRMD6chr14

52037128

+BPIFB1chr20

31873838

+
intron-intronENST00000557103ENST00000464032FRMD6chr14

51956138

+BPIFB1chr20

31873839

+

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 FRMD6-BPIFB1


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)
FRMD6chr1451956138+BPIFB1chr2031873838+0.702945530.2970545
FRMD6chr1452037128+BPIFB1chr2031873838+0.0012283850.9987716
FRMD6chr1452037128+BPIFB1chr2031873838+0.0012283850.9987716
FRMD6chr1451956138+BPIFB1chr2031873838+0.702945530.2970545
FRMD6chr1452037128+BPIFB1chr2031873838+0.0012283850.9987716
FRMD6chr1452037128+BPIFB1chr2031873838+0.0012283850.9987716

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.
genomic feature of top 1%

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Fusion Protein Features for FRMD6-BPIFB1


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/:52037128/:31873839)
- 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
FRMD6

Q96NE9

BPIFB1

Q8TDL5

FUNCTION: May play a role in innate immunity in mouth, nose and lungs. Binds bacterial lipopolysaccharide (LPS) and modulates the cellular responses to LPS. {ECO:0000269|PubMed:21900486}.

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 FRMD6-BPIFB1


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 FRMD6-BPIFB1


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 FRMD6-BPIFB1


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 FRMD6-BPIFB1


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