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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:MYRFL-BEST3 (FusionGDB2 ID:56840)

Fusion Gene Summary for MYRFL-BEST3

check button Fusion gene summary
Fusion gene informationFusion gene name: MYRFL-BEST3
Fusion gene ID: 56840
HgeneTgene
Gene symbol

MYRFL

BEST3

Gene ID

196446

144453

Gene namemyelin regulatory factor likebestrophin 3
SynonymsC12orf15|C12orf28|bcm1377VMD2L3
Cytomap

12q15

12q15

Type of geneprotein-codingprotein-coding
Descriptionmyelin regulatory factor-like proteinbestrophin-3vitelliform macular dystrophy 2-like 3vitelliform macular dystrophy 2-like protein 3
Modification date2020032220200313
UniProtAcc

Q96LU7

Q8N1M1

Ensembl transtripts involved in fusion geneENST00000547771, ENST00000552032, 
ENST00000299350, ENST00000535034, 
ENST00000266661, ENST00000330891, 
ENST00000393365, ENST00000476098, 
ENST00000488961, ENST00000533674, 
ENST00000551160, ENST00000553096, 
ENST00000331471, 
Fusion gene scores* DoF score3 X 3 X 2=1810 X 6 X 5=300
# samples 311
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(11/300*10)=-1.44745897697122
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MYRFL [Title/Abstract] AND BEST3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBEST3(70092985)-MYRFL(70297424), # samples:1
BEST3(70065208)-MYRFL(70249060), # samples:1
MYRFL(70249150)-BEST3(70037567), # samples:1
Anticipated loss of major functional domain due to fusion event.BEST3-MYRFL seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
BEST3-MYRFL seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
MYRFL-BEST3 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
MYRFL-BEST3 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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 MYRFL (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 BEST3 (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
ChimerDB4SARCTCGA-DX-A6BF-01AMYRFLchr12

70249150

+BEST3chr12

70037567

-


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Fusion Gene ORF analysis for MYRFL-BEST3

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-intronENST00000547771ENST00000266661MYRFLchr12

70249150

+BEST3chr12

70037567

-
5CDS-intronENST00000547771ENST00000330891MYRFLchr12

70249150

+BEST3chr12

70037567

-
5CDS-intronENST00000547771ENST00000393365MYRFLchr12

70249150

+BEST3chr12

70037567

-
5CDS-intronENST00000547771ENST00000476098MYRFLchr12

70249150

+BEST3chr12

70037567

-
5CDS-intronENST00000547771ENST00000488961MYRFLchr12

70249150

+BEST3chr12

70037567

-
5CDS-intronENST00000547771ENST00000533674MYRFLchr12

70249150

+BEST3chr12

70037567

-
5CDS-intronENST00000547771ENST00000551160MYRFLchr12

70249150

+BEST3chr12

70037567

-
5CDS-intronENST00000547771ENST00000553096MYRFLchr12

70249150

+BEST3chr12

70037567

-
5CDS-intronENST00000552032ENST00000266661MYRFLchr12

70249150

+BEST3chr12

70037567

-
5CDS-intronENST00000552032ENST00000330891MYRFLchr12

70249150

+BEST3chr12

70037567

-
5CDS-intronENST00000552032ENST00000393365MYRFLchr12

70249150

+BEST3chr12

70037567

-
5CDS-intronENST00000552032ENST00000476098MYRFLchr12

70249150

+BEST3chr12

70037567

-
5CDS-intronENST00000552032ENST00000488961MYRFLchr12

70249150

+BEST3chr12

70037567

-
5CDS-intronENST00000552032ENST00000533674MYRFLchr12

70249150

+BEST3chr12

70037567

-
5CDS-intronENST00000552032ENST00000551160MYRFLchr12

70249150

+BEST3chr12

70037567

-
5CDS-intronENST00000552032ENST00000553096MYRFLchr12

70249150

+BEST3chr12

70037567

-
Frame-shiftENST00000547771ENST00000331471MYRFLchr12

70249150

+BEST3chr12

70037567

-
Frame-shiftENST00000552032ENST00000331471MYRFLchr12

70249150

+BEST3chr12

70037567

-
intron-3CDSENST00000299350ENST00000331471MYRFLchr12

70249150

+BEST3chr12

70037567

-
intron-3CDSENST00000535034ENST00000331471MYRFLchr12

70249150

+BEST3chr12

70037567

-
intron-intronENST00000299350ENST00000266661MYRFLchr12

70249150

+BEST3chr12

70037567

-
intron-intronENST00000299350ENST00000330891MYRFLchr12

70249150

+BEST3chr12

70037567

-
intron-intronENST00000299350ENST00000393365MYRFLchr12

70249150

+BEST3chr12

70037567

-
intron-intronENST00000299350ENST00000476098MYRFLchr12

70249150

+BEST3chr12

70037567

-
intron-intronENST00000299350ENST00000488961MYRFLchr12

70249150

+BEST3chr12

70037567

-
intron-intronENST00000299350ENST00000533674MYRFLchr12

70249150

+BEST3chr12

70037567

-
intron-intronENST00000299350ENST00000551160MYRFLchr12

70249150

+BEST3chr12

70037567

-
intron-intronENST00000299350ENST00000553096MYRFLchr12

70249150

+BEST3chr12

70037567

-
intron-intronENST00000535034ENST00000266661MYRFLchr12

70249150

+BEST3chr12

70037567

-
intron-intronENST00000535034ENST00000330891MYRFLchr12

70249150

+BEST3chr12

70037567

-
intron-intronENST00000535034ENST00000393365MYRFLchr12

70249150

+BEST3chr12

70037567

-
intron-intronENST00000535034ENST00000476098MYRFLchr12

70249150

+BEST3chr12

70037567

-
intron-intronENST00000535034ENST00000488961MYRFLchr12

70249150

+BEST3chr12

70037567

-
intron-intronENST00000535034ENST00000533674MYRFLchr12

70249150

+BEST3chr12

70037567

-
intron-intronENST00000535034ENST00000551160MYRFLchr12

70249150

+BEST3chr12

70037567

-
intron-intronENST00000535034ENST00000553096MYRFLchr12

70249150

+BEST3chr12

70037567

-

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 MYRFL-BEST3


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 MYRFL-BEST3


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/:70092985/:70297424)
- 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
MYRFL

Q96LU7

BEST3

Q8N1M1

FUNCTION: Forms calcium-sensitive chloride channels. Permeable to bicarbonate. {ECO:0000269|PubMed:12907679}.

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 MYRFL-BEST3


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 MYRFL-BEST3


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 MYRFL-BEST3


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 MYRFL-BEST3


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