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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:ACTR8-TSHR (FusionGDB2 ID:HG93973TG7253)

Fusion Gene Summary for ACTR8-TSHR

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTR8-TSHR
Fusion gene ID: hg93973tg7253
HgeneTgene
Gene symbol

ACTR8

TSHR

Gene ID

93973

7253

Gene nameactin related protein 8thyroid stimulating hormone receptor
SynonymsARP8|INO80N|hArp8CHNG1|LGR3|hTSHR-I
Cytomap('ACTR8')('TSHR')

3p21.1

14q31.1

Type of geneprotein-codingprotein-coding
Descriptionactin-related protein 8ARP8 actin related protein 8 homologINO80 complex subunit Nthyrotropin receptorTSH receptorseven transmembrane helix receptorthyrotropin receptor-I, hTSHR-I
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000231909, ENST00000335754, 
ENST00000482349, ENST00000488802, 
Fusion gene scores* DoF score2 X 2 X 1=48 X 7 X 7=392
# samples 29
** MAII scorelog2(2/4*10)=2.32192809488736log2(9/392*10)=-2.12285674778553
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACTR8 [Title/Abstract] AND TSHR [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACTR8(53893019)-TSHR(81599188), # 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 button Fusion gene information
* 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


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Fusion Gene ORF analysis for ACTR8-TSHR

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

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 ACTR8-TSHR


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)


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Fusion Protein Features for ACTR8-TSHR


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/:53893019/:81599188)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (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 ACTR8-TSHR


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 ACTR8-TSHR


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 ACTR8-TSHR


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 ACTR8-TSHR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC1836706Hyperthyroidism, Nonautoimmune18CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC3493776HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 116CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0020550Hyperthyroidism3CTD_human
TgeneC3714618Primary Hyperthyroidism3CTD_human
TgeneC0010308Congenital Hypothyroidism2CTD_human;GENOMICS_ENGLAND
TgeneC0018213Graves Disease2CTD_human
TgeneC0040136Thyroid Neoplasm2CTD_human
TgeneC0151468Thyroid Gland Follicular Adenoma2CGI;CTD_human
TgeneC0151516Thyroid Hypoplasia2GENOMICS_ENGLAND;ORPHANET
TgeneC0549473Thyroid carcinoma2CTD_human;UNIPROT
TgeneC0001430Adenoma1CTD_human
TgeneC0001624Adrenal Gland Neoplasms1CTD_human
TgeneC0007097Carcinoma1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0024232Lymphatic Metastasis1CTD_human
TgeneC0040156Thyrotoxicosis1CTD_human
TgeneC0205646Adenoma, Basal Cell1CTD_human
TgeneC0205647Follicular adenoma1CTD_human
TgeneC0205648Adenoma, Microcystic1CTD_human
TgeneC0205649Adenoma, Monomorphic1CTD_human
TgeneC0205650Papillary adenoma1CTD_human
TgeneC0205651Adenoma, Trabecular1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC0271790Subclinical hypothyroidism1GENOMICS_ENGLAND
TgeneC0342200Endemic Cretinism1CTD_human
TgeneC0749420Thyroid Agenesis1ORPHANET
TgeneC0750887Adrenal Cancer1CTD_human
TgeneC0920350Autoimmune thyroiditis1CTD_human
TgeneC1563716Thyroid Dysgenesis1GENOMICS_ENGLAND
TgeneC1578691Myxedema, Congenital1CTD_human
TgeneC1863959Hyperthyroidism, Familial Gestational1CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC2940786Thyroid Hormone Resistance Syndrome1GENOMICS_ENGLAND
TgeneC4722330Generalized Thyroid Hormone Resistance1GENOMICS_ENGLAND
TgeneC4722488Thyroid Stimulating Hormone Resistance1GENOMICS_ENGLAND