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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:GNPTG-RXRA (FusionGDB2 ID:33839)

Fusion Gene Summary for GNPTG-RXRA

check button Fusion gene summary
Fusion gene informationFusion gene name: GNPTG-RXRA
Fusion gene ID: 33839
HgeneTgene
Gene symbol

GNPTG

RXRA

Gene ID

84572

6256

Gene nameN-acetylglucosamine-1-phosphate transferase subunit gammaretinoid X receptor alpha
SynonymsC16orf27|GNPTAG|LP2537|RJD9NR2B1
Cytomap

16p13.3

9q34.2

Type of geneprotein-codingprotein-coding
DescriptionN-acetylglucosamine-1-phosphotransferase subunit gammaN-acetylglucosamine-1-phosphate transferase gamma subunitUDP-N-acetylglucosamine-1-phosphotransferase subunit gammaglcNAc-1-phosphotransferase subunit gammaretinoic acid receptor RXR-alphanuclear receptor subfamily 2 group B member 1retinoid X nuclear receptor alpha
Modification date2020032220200320
UniProtAcc

Q9UJJ9

.
Ensembl transtripts involved in fusion geneENST00000204679, ENST00000356384, 
ENST00000540193, ENST00000481739, 
Fusion gene scores* DoF score9 X 2 X 7=1268 X 5 X 7=280
# samples 99
** MAII scorelog2(9/126*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/280*10)=-1.63742992061529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GNPTG [Title/Abstract] AND RXRA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGNPTG(1402307)-RXRA(137293478), # 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
HgeneGNPTG

GO:0046835

carbohydrate phosphorylation

19955174

TgeneRXRA

GO:0000122

negative regulation of transcription by RNA polymerase II

17426122

TgeneRXRA

GO:0019048

modulation by virus of host morphology or physiology

11915042

TgeneRXRA

GO:0035357

peroxisome proliferator activated receptor signaling pathway

10195690

TgeneRXRA

GO:0045944

positive regulation of transcription by RNA polymerase II

12037571|20219900


check buttonFusion gene breakpoints across GNPTG (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across RXRA (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4STADTCGA-BR-8078-01AGNPTGchr16

1402307

+RXRAchr9

137293478

+


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Fusion Gene ORF analysis for GNPTG-RXRA

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-3UTRENST00000204679ENST00000356384GNPTGchr16

1402307

+RXRAchr9

137293478

+
5CDS-intronENST00000204679ENST00000540193GNPTGchr16

1402307

+RXRAchr9

137293478

+
In-frameENST00000204679ENST00000481739GNPTGchr16

1402307

+RXRAchr9

137293478

+

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)
ENST00000204679GNPTGchr161402307+ENST00000481739RXRAchr9137293478+1987221431581512

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
ENST00000204679ENST00000481739GNPTGchr161402307+RXRAchr9137293478+0.036455290.9635447

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Fusion Genomic Features for GNPTG-RXRA


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)
GNPTGchr161402307+RXRAchr9137293477+4.10E-070.99999964
GNPTGchr161402307+RXRAchr9137293477+4.10E-070.99999964

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.
genomic feature

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 GNPTG-RXRA


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/chr16:1402307/chr9:137293478)
- 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
GNPTG

Q9UJJ9

.
FUNCTION: Non-catalytic subunit of the N-acetylglucosamine-1-phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high mannose glycans of the acceptor to the catalytic alpha and beta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine-1-phosphate transfer to the oligosaccharides of acid hydrolase acceptors. {ECO:0000269|PubMed:10712439, ECO:0000269|PubMed:19955174}.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
TgeneRXRAchr16:1402307chr9:137293478ENST00000481739010135_2009463.0DNA bindingNuclear receptor
TgeneRXRAchr16:1402307chr9:137293478ENST00000481739010227_4589463.0DomainNR LBD
TgeneRXRAchr16:1402307chr9:137293478ENST00000481739010201_2249463.0RegionNote=Hinge
TgeneRXRAchr16:1402307chr9:137293478ENST00000481739010348_3689463.0RegionRequired for nuclear export
TgeneRXRAchr16:1402307chr9:137293478ENST00000481739010135_1559463.0Zinc fingerNR C4-type
TgeneRXRAchr16:1402307chr9:137293478ENST00000481739010171_1959463.0Zinc fingerNR C4-type

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneGNPTGchr16:1402307chr9:137293478ENST00000204679+311176_27959306.0DomainDMAP1-binding
HgeneGNPTGchr16:1402307chr9:137293478ENST00000204679+31169_17159306.0DomainMRH
TgeneRXRAchr16:1402307chr9:137293478ENST000004817390101_1349463.0RegionModulating


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Fusion Gene Sequence for GNPTG-RXRA


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.
>33839_33839_1_GNPTG-RXRA_GNPTG_chr16_1402307_ENST00000204679_RXRA_chr9_137293478_ENST00000481739_length(transcript)=1987nt_BP=221nt
TGACCGTCACTTCACGTGACCGCGCGGCGGCCGCTGCGGCGCGATGGCGGCGGGGCTGGCGCGGCTCCTGTTGCTCCTCGGGCTCTCGGC
CGGCGGGCCCGCGCCGGCAGGTGCAGCGAAGATGAAGGTGGTGGAGGAGCCCAACGCGTTTGGGGTGAACAACCCGTTCTTGCCTCAGGC
CAGTCGCCTCCAGGCCAAGAGGGATCCTTCACCCGTGTCTGATTTCTCCACCCAGGTGAACTCCTCCCTCACCTCCCCGACGGGGCGAGG
CTCCATGGCTGCCCCCTCGCTGCACCCGTCCCTGGGGCCTGGCATCGGCTCCCCGGGACAGCTGCATTCTCCCATCAGCACCCTGAGCTC
CCCCATCAACGGCATGGGCCCGCCTTTCTCGGTCATCAGCTCCCCCATGGGCCCCCACTCCATGTCGGTGCCCACCACACCCACCCTGGG
CTTCAGCACTGGCAGCCCCCAGCTCAGCTCACCTATGAACCCCGTCAGCAGCAGCGAGGACATCAAGCCCCCCCTGGGCCTCAATGGCGT
CCTCAAGGTCCCCGCCCACCCCTCAGGAAACATGGCTTCCTTCACCAAGCACATCTGCGCCATCTGCGGGGACCGCTCCTCAGGCAAGCA
CTATGGAGTGTACAGCTGCGAGGGGTGCAAGGGCTTCTTCAAGCGGACGGTGCGCAAGGACCTGACCTACACCTGCCGCGACAACAAGGA
CTGCCTGATTGACAAGCGGCAGCGGAACCGGTGCCAGTACTGCCGCTACCAGAAGTGCCTGGCCATGGGCATGAAGCGGGAAGCCGTGCA
GGAGGAGCGGCAGCGTGGCAAGGACCGGAACGAGAATGAGGTGGAGTCGACCAGCAGCGCCAACGAGGACATGCCGGTGGAGAGGATCCT
GGAGGCTGAGCTGGCCGTGGAGCCCAAGACCGAGACCTACGTGGAGGCAAACATGGGGCTGAACCCCAGCTCGCCGAACGACCCTGTCAC
CAACATTTGCCAAGCAGCCGACAAACAGCTTTTCACCCTGGTGGAGTGGGCCAAGCGGATCCCACACTTCTCAGAGCTGCCCCTGGACGA
CCAGGTCATCCTGCTGCGGGCAGGCTGGAATGAGCTGCTCATCGCCTCCTTCTCCCACCGCTCCATCGCCGTGAAGGACGGGATCCTCCT
GGCCACCGGGCTGCACGTCCACCGGAACAGCGCCCACAGCGCAGGGGTGGGCGCCATCTTTGACAGGGTGCTGACGGAGCTTGTGTCCAA
GATGCGGGACATGCAGATGGACAAGACGGAGCTGGGCTGCCTGCGCGCCATCGTCCTCTTTAACCCTGACTCCAAGGGGCTCTCGAACCC
GGCCGAGGTGGAGGCGCTGAGGGAGAAGGTCTATGCGTCCTTGGAGGCCTACTGCAAGCACAAGTACCCAGAGCAGCCGGGAAGGTTCGC
TAAGCTCTTGCTCCGCCTGCCGGCTCTGCGCTCCATCGGGCTCAAATGCCTGGAACATCTCTTCTTCTTCAAGCTCATCGGGGACACACC
CATTGACACCTTCCTTATGGAGATGCTGGAGGCGCCGCACCAAATGACTTAGGCCTGCGGGCCCATCCTTTGTGCCCACCCGTTCTGGCC
ACCCTGCCTGGACGCCAGCTGTTCTTCTCAGCCTGAGCCCTGTCCCTGCCCTTCTCTGCCTGGCCTGTTTGGACTTTGGGGCACAGCCTG
TCACTGCTCTGCCTAAGAGATGTGTTGTCACCCTCCTTATTTCTGTTACTACTTGTCTGTGGCCCAGGGCAGTGGCTTTCCTGAGGCAGC
AGCCTTCGTGGCAAGAACTAGCGTGAGCCCAGCCAGGCGCCTCCCCACCGGGCTCTCAGGACACCCTGCCACACCCCACGGGGCTTGGGC
GACTACAGGGTCTTCGGGCCCCAGCCCTGGAGCTGCAGGAGTTGGGAACGGGGCTTTTGTTTCCGTTGCTGTTTATCGATGCTGGTTTTC

>33839_33839_1_GNPTG-RXRA_GNPTG_chr16_1402307_ENST00000204679_RXRA_chr9_137293478_ENST00000481739_length(amino acids)=512AA_BP=59
MAAGLARLLLLLGLSAGGPAPAGAAKMKVVEEPNAFGVNNPFLPQASRLQAKRDPSPVSDFSTQVNSSLTSPTGRGSMAAPSLHPSLGPG
IGSPGQLHSPISTLSSPINGMGPPFSVISSPMGPHSMSVPTTPTLGFSTGSPQLSSPMNPVSSSEDIKPPLGLNGVLKVPAHPSGNMASF
TKHICAICGDRSSGKHYGVYSCEGCKGFFKRTVRKDLTYTCRDNKDCLIDKRQRNRCQYCRYQKCLAMGMKREAVQEERQRGKDRNENEV
ESTSSANEDMPVERILEAELAVEPKTETYVEANMGLNPSSPNDPVTNICQAADKQLFTLVEWAKRIPHFSELPLDDQVILLRAGWNELLI
ASFSHRSIAVKDGILLATGLHVHRNSAHSAGVGAIFDRVLTELVSKMRDMQMDKTELGCLRAIVLFNPDSKGLSNPAEVEALREKVYASL

--------------------------------------------------------------

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Fusion Gene PPI Analysis for GNPTG-RXRA


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 GNPTG-RXRA


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 GNPTG-RXRA


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