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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-TG (FusionGDB2 ID:9662)

Fusion Gene Summary for BEST1-TG

check button Fusion gene summary
Fusion gene informationFusion gene name: BEST1-TG
Fusion gene ID: 9662
HgeneTgene
Gene symbol

BEST1

TG

Gene ID

7439

7038

Gene namebestrophin 1thyroglobulin
SynonymsARB|BEST|BMD|Best1V1Delta2|RP50|TU15B|VMD2AITD3|TGN
Cytomap

11q12.3

8q24.22

Type of geneprotein-codingprotein-coding
Descriptionbestrophin-1Best diseasevitelliform macular dystrophy protein 2thyroglobulin
Modification date2020031320200313
UniProtAcc

O76090

TIAF1

Ensembl transtripts involved in fusion geneENST00000378043, ENST00000378042, 
ENST00000534553, ENST00000301774, 
ENST00000435278, ENST00000449131, 
ENST00000526988, 		ENST00000377869, 
ENST00000220616, ENST00000542445, 
ENST00000519543, ENST00000522523, 
Fusion gene scores* DoF score10 X 12 X 8=96027 X 26 X 8=5616
# samples 1229
** MAII scorelog2(12/960*10)=-3
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(29/5616*10)=-4.27541813028963
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointBEST1(61732987)-TG(134034274), # 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


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 TG (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
ChimerDB4THCATCGA-DJ-A3VM-01ABEST1chr11

61732987

+TGchr8

134034274

+


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Fusion Gene ORF analysis for BEST1-TG

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-3CDSENST00000378043ENST00000377869BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000378043ENST00000220616BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000378043ENST00000542445BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000378043ENST00000519543BEST1chr11

61732987

+TGchr8

134034274

+
intron-intronENST00000378043ENST00000522523BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000378042ENST00000377869BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000378042ENST00000220616BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000378042ENST00000542445BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000378042ENST00000519543BEST1chr11

61732987

+TGchr8

134034274

+
intron-intronENST00000378042ENST00000522523BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000534553ENST00000377869BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000534553ENST00000220616BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000534553ENST00000542445BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000534553ENST00000519543BEST1chr11

61732987

+TGchr8

134034274

+
intron-intronENST00000534553ENST00000522523BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000301774ENST00000377869BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000301774ENST00000220616BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000301774ENST00000542445BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000301774ENST00000519543BEST1chr11

61732987

+TGchr8

134034274

+
intron-intronENST00000301774ENST00000522523BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000435278ENST00000377869BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000435278ENST00000220616BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000435278ENST00000542445BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000435278ENST00000519543BEST1chr11

61732987

+TGchr8

134034274

+
intron-intronENST00000435278ENST00000522523BEST1chr11

61732987

+TGchr8

134034274

+
Frame-shiftENST00000449131ENST00000377869BEST1chr11

61732987

+TGchr8

134034274

+
Frame-shiftENST00000449131ENST00000220616BEST1chr11

61732987

+TGchr8

134034274

+
Frame-shiftENST00000449131ENST00000542445BEST1chr11

61732987

+TGchr8

134034274

+
Frame-shiftENST00000449131ENST00000519543BEST1chr11

61732987

+TGchr8

134034274

+
5CDS-intronENST00000449131ENST00000522523BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000526988ENST00000377869BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000526988ENST00000220616BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000526988ENST00000542445BEST1chr11

61732987

+TGchr8

134034274

+
intron-3CDSENST00000526988ENST00000519543BEST1chr11

61732987

+TGchr8

134034274

+
intron-intronENST00000526988ENST00000522523BEST1chr11

61732987

+TGchr8

134034274

+

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-TG


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-TG


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BEST1

O76090

TG

TIAF1

FUNCTION: Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate. {ECO:0000269|PubMed:11904445, ECO:0000269|PubMed:12907679, ECO:0000269|PubMed:18400985}.115

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-TG


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-TG


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-TG


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-TG


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBEST1C0339510Vitelliform Macular Dystrophy20CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneBEST1C3888198BESTROPHINOPATHY, AUTOSOMAL RECESSIVE6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneBEST1C3888099Autosomal dominant vitreoretinochoroidopathy3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneBEST1C2750789RETINITIS PIGMENTOSA, CONCENTRIC (disorder)2CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneBEST1C0015397Disorder of eye1GENOMICS_ENGLAND
HgeneBEST1C0026010Microphthalmos1ORPHANET
HgeneBEST1C0155359Scleral staphyloma1GENOMICS_ENGLAND
HgeneBEST1C1842914Adult-Onset Vitelliform Macular Dystrophy1CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneBEST1C2674009Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma1CTD_human;ORPHANET
HgeneBEST1C2745945Juvenile-Onset Vitelliform Macular Dystrophy1CTD_human;ORPHANET
TgeneTGC0342194Thyroid Dyshormonogenesis 38CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneTGC0018021Goiter2CTD_human
TgeneTGC1848805Thyroid Dyshormonogenesis 12ORPHANET
TgeneTGC0003469Anxiety Disorders1CTD_human
TgeneTGC0004364Autoimmune Diseases1CTD_human
TgeneTGC0010308Congenital Hypothyroidism1GENOMICS_ENGLAND
TgeneTGC0011573Endogenous depression1CTD_human
TgeneTGC0011581Depressive disorder1CTD_human
TgeneTGC0013336Dwarfism1CTD_human
TgeneTGC0025193Melancholia1CTD_human
TgeneTGC0041696Unipolar Depression1CTD_human
TgeneTGC0086133Depressive Syndrome1CTD_human
TgeneTGC0282126Depression, Neurotic1CTD_human
TgeneTGC0376280Anxiety States, Neurotic1CTD_human
TgeneTGC0677607Hashimoto Disease1CTD_human
TgeneTGC0920350Autoimmune thyroiditis1CTD_human
TgeneTGC1279420Anxiety neurosis (finding)1CTD_human