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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:THRA-GOSR1 (FusionGDB2 ID:90697)

Fusion Gene Summary for THRA-GOSR1

check button Fusion gene summary
Fusion gene informationFusion gene name: THRA-GOSR1
Fusion gene ID: 90697
HgeneTgene
Gene symbol

THRA

GOSR1

Gene ID

7067

9527

Gene namethyroid hormone receptor alphagolgi SNAP receptor complex member 1
SynonymsAR7|CHNG6|EAR7|ERB-T-1|ERBA|ERBA1|NR1A1|THRA1|THRA2|c-ERBA-1GOLIM2|GOS-28|GOS28|GOS28/P28|GS28|P28
Cytomap

17q21.1

17q11.2

Type of geneprotein-codingprotein-coding
Descriptionthyroid hormone receptor alphaEAR-7ERBA-related 7V-erbA-related protein 7c-erbA-alphanuclear receptor subfamily 1 group A member 1thyroid hormone receptor alpha 1thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homoGolgi SNAP receptor complex member 128 kDa Golgi SNARE protein28 kDa cis-Golgi SNARE p28Golgi SNARE 28 kDacis-golgi SNAREgolgi integral membrane protein 2
Modification date2020031320200313
UniProtAcc.

O95249

Ensembl transtripts involved in fusion geneENST00000264637, ENST00000394121, 
ENST00000450525, ENST00000546243, 
ENST00000584985, 		ENST00000579905, 
ENST00000225724, ENST00000451249, 
ENST00000467337, ENST00000581721, 
Fusion gene scores* DoF score14 X 10 X 10=14007 X 8 X 3=168
# samples 238
** MAII scorelog2(23/1400*10)=-2.60572106088795
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: THRA [Title/Abstract] AND GOSR1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTHRA(38233191)-GOSR1(28817144), # samples:2
Anticipated loss of major functional domain due to fusion event.THRA-GOSR1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
THRA-GOSR1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
THRA-GOSR1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
THRA-GOSR1 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
HgeneTHRA

GO:0006357

regulation of transcription by RNA polymerase II

18052923

HgeneTHRA

GO:0006366

transcription by RNA polymerase II

8710870|9653119

HgeneTHRA

GO:0009755

hormone-mediated signaling pathway

18052923

HgeneTHRA

GO:0017055

negative regulation of RNA polymerase II transcriptional preinitiation complex assembly

8524305

HgeneTHRA

GO:0045892

negative regulation of transcription, DNA-templated

8710870

HgeneTHRA

GO:2000143

negative regulation of DNA-templated transcription, initiation

8524305

TgeneGOSR1

GO:0042147

retrograde transport, endosome to Golgi

15215310


check buttonFusion gene breakpoints across THRA (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 GOSR1 (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
ChimerDB4BRCATCGA-AC-A2FB-01ATHRAchr17

38233191

+GOSR1chr17

28817144

+


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Fusion Gene ORF analysis for THRA-GOSR1

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-intronENST00000264637ENST00000579905THRAchr17

38233191

+GOSR1chr17

28817144

+
5CDS-intronENST00000394121ENST00000579905THRAchr17

38233191

+GOSR1chr17

28817144

+
5CDS-intronENST00000450525ENST00000579905THRAchr17

38233191

+GOSR1chr17

28817144

+
5CDS-intronENST00000546243ENST00000579905THRAchr17

38233191

+GOSR1chr17

28817144

+
5CDS-intronENST00000584985ENST00000579905THRAchr17

38233191

+GOSR1chr17

28817144

+
Frame-shiftENST00000264637ENST00000225724THRAchr17

38233191

+GOSR1chr17

28817144

+
Frame-shiftENST00000264637ENST00000451249THRAchr17

38233191

+GOSR1chr17

28817144

+
Frame-shiftENST00000264637ENST00000467337THRAchr17

38233191

+GOSR1chr17

28817144

+
Frame-shiftENST00000264637ENST00000581721THRAchr17

38233191

+GOSR1chr17

28817144

+
Frame-shiftENST00000394121ENST00000225724THRAchr17

38233191

+GOSR1chr17

28817144

+
Frame-shiftENST00000394121ENST00000451249THRAchr17

38233191

+GOSR1chr17

28817144

+
Frame-shiftENST00000394121ENST00000467337THRAchr17

38233191

+GOSR1chr17

28817144

+
Frame-shiftENST00000394121ENST00000581721THRAchr17

38233191

+GOSR1chr17

28817144

+
Frame-shiftENST00000450525ENST00000225724THRAchr17

38233191

+GOSR1chr17

28817144

+
Frame-shiftENST00000450525ENST00000451249THRAchr17

38233191

+GOSR1chr17

28817144

+
Frame-shiftENST00000450525ENST00000467337THRAchr17

38233191

+GOSR1chr17

28817144

+
Frame-shiftENST00000450525ENST00000581721THRAchr17

38233191

+GOSR1chr17

28817144

+
Frame-shiftENST00000546243ENST00000225724THRAchr17

38233191

+GOSR1chr17

28817144

+
Frame-shiftENST00000546243ENST00000451249THRAchr17

38233191

+GOSR1chr17

28817144

+
Frame-shiftENST00000546243ENST00000467337THRAchr17

38233191

+GOSR1chr17

28817144

+
Frame-shiftENST00000546243ENST00000581721THRAchr17

38233191

+GOSR1chr17

28817144

+
Frame-shiftENST00000584985ENST00000225724THRAchr17

38233191

+GOSR1chr17

28817144

+
Frame-shiftENST00000584985ENST00000451249THRAchr17

38233191

+GOSR1chr17

28817144

+
Frame-shiftENST00000584985ENST00000467337THRAchr17

38233191

+GOSR1chr17

28817144

+
Frame-shiftENST00000584985ENST00000581721THRAchr17

38233191

+GOSR1chr17

28817144

+

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 THRA-GOSR1


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)
THRAchr1738233191+GOSR1chr1728817143+0.0001790020.999821
THRAchr1738233191+GOSR1chr1728817143+0.0001790020.999821

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.
genomic feature of top 1%

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Fusion Protein Features for THRA-GOSR1


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/:38233191/:28817144)
- 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
.GOSR1

O95249

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: Involved in transport from the ER to the Golgi apparatus as well as in intra-Golgi transport. It belongs to a super-family of proteins called t-SNAREs or soluble NSF (N-ethylmaleimide-sensitive factor) attachment protein receptor. May play a protective role against hydrogen peroxide induced cytotoxicity under glutathione depleted conditions in neuronal cells by regulating the intracellular ROS levels via inhibition of p38 MAPK (MAPK11, MAPK12, MAPK13 and MAPK14). Participates in docking and fusion stage of ER to cis-Golgi transport. Plays an important physiological role in VLDL-transport vesicle-Golgi fusion and thus in VLDL delivery to the hepatic cis-Golgi. {ECO:0000269|PubMed:15215310, ECO:0000269|PubMed:21860593}.

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 THRA-GOSR1


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 THRA-GOSR1


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 THRA-GOSR1


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 THRA-GOSR1


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