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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:MSMB-EFCAB6 (FusionGDB2 ID:55375)

Fusion Gene Summary for MSMB-EFCAB6

check button Fusion gene summary
Fusion gene informationFusion gene name: MSMB-EFCAB6
Fusion gene ID: 55375
HgeneTgene
Gene symbol

MSMB

EFCAB6

Gene ID

4477

64800

Gene namemicroseminoprotein betaEF-hand calcium binding domain 6
SynonymsHPC13|IGBF|MSP|MSPB|PN44|PRPS|PSP|PSP-94|PSP57|PSP94DJBP|HSCBCIP1|dJ185D5.1
Cytomap

10q11.22

22q13.2-q13.31

Type of geneprotein-codingprotein-coding
Descriptionbeta-microseminoproteinimmunoglobulin binding factorprostate secreted seminal plasma proteinprostate secretory protein of 94 amino acidsseminal plasma beta-inhibinEF-hand calcium-binding domain-containing protein 6CAP-binding protein complex-interacting protein 1DJ-1-binding proteinepididymis secretory sperm binding protein
Modification date2020031320200313
UniProtAcc

P08118

Q5THR3

Ensembl transtripts involved in fusion geneENST00000358559, ENST00000298239, 
ENST00000474170, 
ENST00000262726, 
ENST00000356087, ENST00000358439, 
ENST00000396231, ENST00000461800, 
Fusion gene scores* DoF score15 X 7 X 2=21029 X 21 X 6=3654
# samples 1531
** MAII scorelog2(15/210*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(31/3654*10)=-3.55913651335325
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MSMB [Title/Abstract] AND EFCAB6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMSMB(51562509)-EFCAB6(43944420), # 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

check buttonFusion gene breakpoints across MSMB (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 EFCAB6 (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/AAA580026MSMBchr10

51562509

-EFCAB6chr22

43944420

+


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Fusion Gene ORF analysis for MSMB-EFCAB6

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-intronENST00000358559ENST00000262726MSMBchr10

51562509

-EFCAB6chr22

43944420

+
3UTR-intronENST00000358559ENST00000356087MSMBchr10

51562509

-EFCAB6chr22

43944420

+
3UTR-intronENST00000358559ENST00000358439MSMBchr10

51562509

-EFCAB6chr22

43944420

+
3UTR-intronENST00000358559ENST00000396231MSMBchr10

51562509

-EFCAB6chr22

43944420

+
3UTR-intronENST00000358559ENST00000461800MSMBchr10

51562509

-EFCAB6chr22

43944420

+
5CDS-intronENST00000298239ENST00000262726MSMBchr10

51562509

-EFCAB6chr22

43944420

+
5CDS-intronENST00000298239ENST00000356087MSMBchr10

51562509

-EFCAB6chr22

43944420

+
5CDS-intronENST00000298239ENST00000358439MSMBchr10

51562509

-EFCAB6chr22

43944420

+
5CDS-intronENST00000298239ENST00000396231MSMBchr10

51562509

-EFCAB6chr22

43944420

+
5CDS-intronENST00000298239ENST00000461800MSMBchr10

51562509

-EFCAB6chr22

43944420

+
intron-intronENST00000474170ENST00000262726MSMBchr10

51562509

-EFCAB6chr22

43944420

+
intron-intronENST00000474170ENST00000356087MSMBchr10

51562509

-EFCAB6chr22

43944420

+
intron-intronENST00000474170ENST00000358439MSMBchr10

51562509

-EFCAB6chr22

43944420

+
intron-intronENST00000474170ENST00000396231MSMBchr10

51562509

-EFCAB6chr22

43944420

+
intron-intronENST00000474170ENST00000461800MSMBchr10

51562509

-EFCAB6chr22

43944420

+

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 MSMB-EFCAB6


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 MSMB-EFCAB6


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/:51562509/:43944420)
- 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
MSMB

P08118

EFCAB6

Q5THR3

FUNCTION: Negatively regulates the androgen receptor by recruiting histone deacetylase complex, and protein DJ-1 antagonizes this inhibition by abrogation of this complex. {ECO:0000269|PubMed:12612053}.

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 MSMB-EFCAB6


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 MSMB-EFCAB6


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 MSMB-EFCAB6


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 MSMB-EFCAB6


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