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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:BEST1-FTH1 (FusionGDB2 ID:9591)

Fusion Gene Summary for BEST1-FTH1

check button Fusion gene summary
Fusion gene informationFusion gene name: BEST1-FTH1
Fusion gene ID: 9591
HgeneTgene
Gene symbol

BEST1

FTH1

Gene ID

7439

2495

Gene namebestrophin 1ferritin heavy chain 1
SynonymsARB|BEST|BMD|Best1V1Delta2|RP50|TU15B|VMD2FHC|FTH|FTHL6|HFE5|PIG15|PLIF
Cytomap

11q12.3

11q12.3

Type of geneprotein-codingprotein-coding
Descriptionbestrophin-1Best diseasevitelliform macular dystrophy protein 2ferritin heavy chainapoferritincell proliferation-inducing gene 15 proteinferritin H subunitferritin, heavy polypeptide 1placenta immunoregulatory factorproliferation-inducing protein 15
Modification date2020031320200329
UniProtAcc

O76090

P02794

Ensembl transtripts involved in fusion geneENST00000449131, ENST00000378042, 
ENST00000378043, ENST00000435278, 
ENST00000526988, ENST00000301774, 
ENST00000534553, 		ENST00000273550, 
ENST00000526640, ENST00000529191, 
ENST00000529631, ENST00000532601, 
Fusion gene scores* DoF score10 X 12 X 8=96020 X 21 X 8=3360
# samples 1227
** MAII scorelog2(12/960*10)=-3
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(27/3360*10)=-3.63742992061529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BEST1 [Title/Abstract] AND FTH1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBEST1(61724936)-FTH1(61732987), # samples:1
BEST1(61732363)-FTH1(61732459), # 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
HgeneBEST1

GO:0006821

chloride transport

17003041

HgeneBEST1

GO:0030321

transepithelial chloride transport

17003041

TgeneFTH1

GO:0006880

intracellular sequestering of iron ion

9924025

TgeneFTH1

GO:0048147

negative regulation of fibroblast proliferation

9924025


check buttonFusion gene breakpoints across BEST1 (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 FTH1 (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
ChimerDB4GBMTCGA-14-1402-02ABEST1chr11

61724936

+FTH1chr11

61732987

-
ChiTaRS5.0N/AAI589125BEST1chr11

61732363

+FTH1chr11

61732459

+


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Fusion Gene ORF analysis for BEST1-FTH1

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-intronENST00000449131ENST00000273550BEST1chr11

61732363

+FTH1chr11

61732459

+
3UTR-intronENST00000449131ENST00000526640BEST1chr11

61732363

+FTH1chr11

61732459

+
3UTR-intronENST00000449131ENST00000529191BEST1chr11

61732363

+FTH1chr11

61732459

+
3UTR-intronENST00000449131ENST00000529631BEST1chr11

61732363

+FTH1chr11

61732459

+
3UTR-intronENST00000449131ENST00000532601BEST1chr11

61732363

+FTH1chr11

61732459

+
5CDS-5UTRENST00000378042ENST00000532601BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-5UTRENST00000378043ENST00000532601BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-5UTRENST00000435278ENST00000532601BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-5UTRENST00000449131ENST00000532601BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-5UTRENST00000526988ENST00000532601BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-intronENST00000378042ENST00000273550BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-intronENST00000378042ENST00000526640BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-intronENST00000378042ENST00000529191BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-intronENST00000378042ENST00000529631BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-intronENST00000378043ENST00000273550BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-intronENST00000378043ENST00000526640BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-intronENST00000378043ENST00000529191BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-intronENST00000378043ENST00000529631BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-intronENST00000435278ENST00000273550BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-intronENST00000435278ENST00000526640BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-intronENST00000435278ENST00000529191BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-intronENST00000435278ENST00000529631BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-intronENST00000449131ENST00000273550BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-intronENST00000449131ENST00000526640BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-intronENST00000449131ENST00000529191BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-intronENST00000449131ENST00000529631BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-intronENST00000526988ENST00000273550BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-intronENST00000526988ENST00000526640BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-intronENST00000526988ENST00000529191BEST1chr11

61724936

+FTH1chr11

61732987

-
5CDS-intronENST00000526988ENST00000529631BEST1chr11

61724936

+FTH1chr11

61732987

-
intron-5UTRENST00000301774ENST00000532601BEST1chr11

61724936

+FTH1chr11

61732987

-
intron-5UTRENST00000534553ENST00000532601BEST1chr11

61724936

+FTH1chr11

61732987

-
intron-intronENST00000301774ENST00000273550BEST1chr11

61724936

+FTH1chr11

61732987

-
intron-intronENST00000301774ENST00000273550BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000301774ENST00000526640BEST1chr11

61724936

+FTH1chr11

61732987

-
intron-intronENST00000301774ENST00000526640BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000301774ENST00000529191BEST1chr11

61724936

+FTH1chr11

61732987

-
intron-intronENST00000301774ENST00000529191BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000301774ENST00000529631BEST1chr11

61724936

+FTH1chr11

61732987

-
intron-intronENST00000301774ENST00000529631BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000301774ENST00000532601BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000378042ENST00000273550BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000378042ENST00000526640BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000378042ENST00000529191BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000378042ENST00000529631BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000378042ENST00000532601BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000378043ENST00000273550BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000378043ENST00000526640BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000378043ENST00000529191BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000378043ENST00000529631BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000378043ENST00000532601BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000435278ENST00000273550BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000435278ENST00000526640BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000435278ENST00000529191BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000435278ENST00000529631BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000435278ENST00000532601BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000526988ENST00000273550BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000526988ENST00000526640BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000526988ENST00000529191BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000526988ENST00000529631BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000526988ENST00000532601BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000534553ENST00000273550BEST1chr11

61724936

+FTH1chr11

61732987

-
intron-intronENST00000534553ENST00000273550BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000534553ENST00000526640BEST1chr11

61724936

+FTH1chr11

61732987

-
intron-intronENST00000534553ENST00000526640BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000534553ENST00000529191BEST1chr11

61724936

+FTH1chr11

61732987

-
intron-intronENST00000534553ENST00000529191BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000534553ENST00000529631BEST1chr11

61724936

+FTH1chr11

61732987

-
intron-intronENST00000534553ENST00000529631BEST1chr11

61732363

+FTH1chr11

61732459

+
intron-intronENST00000534553ENST00000532601BEST1chr11

61732363

+FTH1chr11

61732459

+

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 BEST1-FTH1


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 BEST1-FTH1


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/:61724936/:61732987)
- 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
BEST1

O76090

FTH1

P02794

FUNCTION: Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate. {ECO:0000269|PubMed:11904445, ECO:0000269|PubMed:12907679, ECO:0000269|PubMed:18400985}.FUNCTION: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity). {ECO:0000250}.

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 BEST1-FTH1


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 BEST1-FTH1


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 BEST1-FTH1


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 BEST1-FTH1


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