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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:UBA2-GPI (FusionGDB2 ID:95809)

Fusion Gene Summary for UBA2-GPI

check button Fusion gene summary
Fusion gene informationFusion gene name: UBA2-GPI
Fusion gene ID: 95809
HgeneTgene
Gene symbol

UBA2

GPI

Gene ID

10054

10007

Gene nameubiquitin like modifier activating enzyme 2glucosamine-6-phosphate deaminase 1
SynonymsARX|HRIHFB2115|SAE2GNP1|GNPDA|GNPI|GPI|HLN
Cytomap

19q13.11

5q31.3

Type of geneprotein-codingprotein-coding
DescriptionSUMO-activating enzyme subunit 2SUMO-1 activating enzyme subunit 2SUMO1 activating enzyme subunit 2UBA2, ubiquitin-activating enzyme E1 homologanthracycline-associated resistance ARXubiquitin-like 1-activating enzyme E1Bglucosamine-6-phosphate isomerase 1GNPDA 1glcN6P deaminase 1oscillin
Modification date2020031320200313
UniProtAcc.

Q8IV16

Ensembl transtripts involved in fusion geneENST00000246548, ENST00000439527, 
ENST00000588585, ENST00000592791, 
ENST00000356487, ENST00000415930, 
ENST00000586425, 
Fusion gene scores* DoF score14 X 11 X 8=123219 X 17 X 10=3230
# samples 1823
** MAII scorelog2(18/1232*10)=-2.77493344436523
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(23/3230*10)=-3.81182839863691
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UBA2 [Title/Abstract] AND GPI [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointUBA2(34919475)-GPI(34869839), # samples:2
GPI(34859607)-UBA2(34949673), # 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
HgeneUBA2

GO:0016925

protein sumoylation

20164921

HgeneUBA2

GO:0033235

positive regulation of protein sumoylation

10187858


check buttonFusion gene breakpoints across UBA2 (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 GPI (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
ChimerDB4CESCTCGA-C5-A1MQ-01AUBA2chr19

34919475

-GPIchr19

34869839

+
ChimerDB4CESCTCGA-C5-A1MQUBA2chr19

34919475

+GPIchr19

34869839

+
ChimerDB4OVTCGA-36-1574-01AUBA2chr19

34925873

+GPIchr19

34887206

+
ChimerDB4OVTCGA-36-1574UBA2chr19

34925873

+GPIchr19

34887205

+


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Fusion Gene ORF analysis for UBA2-GPI

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
In-frameENST00000246548ENST00000356487UBA2chr19

34919475

+GPIchr19

34869839

+
In-frameENST00000246548ENST00000356487UBA2chr19

34925873

+GPIchr19

34887206

+
In-frameENST00000246548ENST00000356487UBA2chr19

34925873

+GPIchr19

34887205

+
In-frameENST00000246548ENST00000415930UBA2chr19

34919475

+GPIchr19

34869839

+
In-frameENST00000246548ENST00000415930UBA2chr19

34925873

+GPIchr19

34887206

+
In-frameENST00000246548ENST00000415930UBA2chr19

34925873

+GPIchr19

34887205

+
In-frameENST00000246548ENST00000586425UBA2chr19

34919475

+GPIchr19

34869839

+
In-frameENST00000246548ENST00000586425UBA2chr19

34925873

+GPIchr19

34887206

+
In-frameENST00000246548ENST00000586425UBA2chr19

34925873

+GPIchr19

34887205

+
In-frameENST00000439527ENST00000356487UBA2chr19

34925873

+GPIchr19

34887206

+
In-frameENST00000439527ENST00000356487UBA2chr19

34925873

+GPIchr19

34887205

+
In-frameENST00000439527ENST00000415930UBA2chr19

34925873

+GPIchr19

34887206

+
In-frameENST00000439527ENST00000415930UBA2chr19

34925873

+GPIchr19

34887205

+
In-frameENST00000439527ENST00000586425UBA2chr19

34925873

+GPIchr19

34887206

+
In-frameENST00000439527ENST00000586425UBA2chr19

34925873

+GPIchr19

34887205

+
intron-3CDSENST00000439527ENST00000356487UBA2chr19

34919475

+GPIchr19

34869839

+
intron-3CDSENST00000439527ENST00000415930UBA2chr19

34919475

+GPIchr19

34869839

+
intron-3CDSENST00000439527ENST00000586425UBA2chr19

34919475

+GPIchr19

34869839

+
intron-3CDSENST00000588585ENST00000356487UBA2chr19

34919475

+GPIchr19

34869839

+
intron-3CDSENST00000588585ENST00000356487UBA2chr19

34925873

+GPIchr19

34887206

+
intron-3CDSENST00000588585ENST00000356487UBA2chr19

34925873

+GPIchr19

34887205

+
intron-3CDSENST00000588585ENST00000415930UBA2chr19

34919475

+GPIchr19

34869839

+
intron-3CDSENST00000588585ENST00000415930UBA2chr19

34925873

+GPIchr19

34887206

+
intron-3CDSENST00000588585ENST00000415930UBA2chr19

34925873

+GPIchr19

34887205

+
intron-3CDSENST00000588585ENST00000586425UBA2chr19

34919475

+GPIchr19

34869839

+
intron-3CDSENST00000588585ENST00000586425UBA2chr19

34925873

+GPIchr19

34887206

+
intron-3CDSENST00000588585ENST00000586425UBA2chr19

34925873

+GPIchr19

34887205

+
intron-3CDSENST00000592791ENST00000356487UBA2chr19

34919475

+GPIchr19

34869839

+
intron-3CDSENST00000592791ENST00000356487UBA2chr19

34925873

+GPIchr19

34887206

+
intron-3CDSENST00000592791ENST00000356487UBA2chr19

34925873

+GPIchr19

34887205

+
intron-3CDSENST00000592791ENST00000415930UBA2chr19

34919475

+GPIchr19

34869839

+
intron-3CDSENST00000592791ENST00000415930UBA2chr19

34925873

+GPIchr19

34887206

+
intron-3CDSENST00000592791ENST00000415930UBA2chr19

34925873

+GPIchr19

34887205

+
intron-3CDSENST00000592791ENST00000586425UBA2chr19

34919475

+GPIchr19

34869839

+
intron-3CDSENST00000592791ENST00000586425UBA2chr19

34925873

+GPIchr19

34887206

+
intron-3CDSENST00000592791ENST00000586425UBA2chr19

34925873

+GPIchr19

34887205

+

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 UBA2-GPI


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)
UBA2chr1934925873+GPIchr1934887205+1.05E-091
UBA2chr1934919475+GPIchr1934869838+1.58E-091
UBA2chr1934925873+GPIchr1934887205+1.05E-091
UBA2chr1934925873+GPIchr1934887205+1.05E-091
UBA2chr1934919475+GPIchr1934869838+1.58E-091
UBA2chr1934925873+GPIchr1934887205+1.05E-091

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 UBA2-GPI


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/chr19:34919475/chr19:34869839)
- 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
.GPI

Q8IV16

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: Mediates the transport of lipoprotein lipase LPL from the basolateral to the apical surface of endothelial cells in capillaries (By similarity). Anchors LPL on the surface of endothelial cells in the lumen of blood capillaries (By similarity). Protects LPL against loss of activity, and against ANGPTL4-mediated unfolding (PubMed:27929370, PubMed:29899144). Thereby, plays an important role in lipolytic processing of chylomicrons by LPL, triglyceride metabolism and lipid homeostasis (PubMed:19304573, PubMed:21314738). Binds chylomicrons and phospholipid particles that contain APOA5 (PubMed:17997385, PubMed:19304573). Binds high-density lipoprotein (HDL) and plays a role in the uptake of lipids from HDL (By similarity). {ECO:0000250|UniProtKB:Q9D1N2, ECO:0000269|PubMed:17997385, ECO:0000269|PubMed:19304573, ECO:0000269|PubMed:21314738, ECO:0000269|PubMed:27929370, ECO:0000269|PubMed:29899144}.

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
HgeneUBA2chr19:34919475chr19:34869839ENST00000246548+11724_2946641.0Nucleotide bindingATP
HgeneUBA2chr19:34925873chr19:34887205ENST00000246548+517117_122153641.0Nucleotide bindingATP
HgeneUBA2chr19:34925873chr19:34887205ENST00000246548+51724_29153641.0Nucleotide bindingATP
HgeneUBA2chr19:34925873chr19:34887205ENST00000246548+51756_59153641.0Nucleotide bindingATP
HgeneUBA2chr19:34925873chr19:34887205ENST00000246548+51795_96153641.0Nucleotide bindingATP
HgeneUBA2chr19:34925873chr19:34887206ENST00000246548+517117_122153641.0Nucleotide bindingATP
HgeneUBA2chr19:34925873chr19:34887206ENST00000246548+51724_29153641.0Nucleotide bindingATP
HgeneUBA2chr19:34925873chr19:34887206ENST00000246548+51756_59153641.0Nucleotide bindingATP
HgeneUBA2chr19:34925873chr19:34887206ENST00000246548+51795_96153641.0Nucleotide bindingATP
TgeneGPIchr19:34919475chr19:34869839ENST00000356487518210_215211559.0RegionGlucose-6-phosphate binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneUBA2chr19:34919475chr19:34869839ENST00000246548+117117_12246641.0Nucleotide bindingATP
HgeneUBA2chr19:34919475chr19:34869839ENST00000246548+11756_5946641.0Nucleotide bindingATP
HgeneUBA2chr19:34919475chr19:34869839ENST00000246548+11795_9646641.0Nucleotide bindingATP
TgeneGPIchr19:34919475chr19:34869839ENST00000356487518159_160211559.0RegionGlucose-6-phosphate binding
TgeneGPIchr19:34919475chr19:34869839ENST00000415930518159_160222570.0RegionGlucose-6-phosphate binding
TgeneGPIchr19:34919475chr19:34869839ENST00000415930518210_215222570.0RegionGlucose-6-phosphate binding
TgeneGPIchr19:34925873chr19:34887205ENST000003564871118159_160354559.0RegionGlucose-6-phosphate binding
TgeneGPIchr19:34925873chr19:34887205ENST000003564871118210_215354559.0RegionGlucose-6-phosphate binding
TgeneGPIchr19:34925873chr19:34887205ENST000004159301118159_160365570.0RegionGlucose-6-phosphate binding
TgeneGPIchr19:34925873chr19:34887205ENST000004159301118210_215365570.0RegionGlucose-6-phosphate binding
TgeneGPIchr19:34925873chr19:34887206ENST000003564871118159_160354559.0RegionGlucose-6-phosphate binding
TgeneGPIchr19:34925873chr19:34887206ENST000003564871118210_215354559.0RegionGlucose-6-phosphate binding
TgeneGPIchr19:34925873chr19:34887206ENST000004159301118159_160365570.0RegionGlucose-6-phosphate binding
TgeneGPIchr19:34925873chr19:34887206ENST000004159301118210_215365570.0RegionGlucose-6-phosphate binding


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Fusion Gene Sequence for UBA2-GPI


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 UBA2-GPI


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 UBA2-GPI


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 UBA2-GPI


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