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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:GLB1-ARHGEF3 (FusionGDB2 ID:33206)

Fusion Gene Summary for GLB1-ARHGEF3

check button Fusion gene summary
Fusion gene informationFusion gene name: GLB1-ARHGEF3
Fusion gene ID: 33206
HgeneTgene
Gene symbol

GLB1

ARHGEF3

Gene ID

2720

50650

Gene namegalactosidase beta 1Rho guanine nucleotide exchange factor 3
SynonymsEBP|ELNR1|MPS4BGEF3|STA3|XPLN
Cytomap

3p22.3

3p14.3

Type of geneprotein-codingprotein-coding
Descriptionbeta-galactosidaseacid beta-galactosidaseelastin binding proteinelastin receptor 1, 67kDalactaserho guanine nucleotide exchange factor 359.8 kDA proteinRho guanine nucleotide exchange factor (GEF) 3RhoGEF proteinexchange factor found in platelets and leukemic and neuronal tissues, XPLN
Modification date2020031320200327
UniProtAcc

P16278

Q8N4T4

Ensembl transtripts involved in fusion geneENST00000307363, ENST00000307377, 
ENST00000445488, ENST00000399402, 
ENST00000497796, 
ENST00000338458, 
ENST00000296315, ENST00000413728, 
ENST00000495373, ENST00000496106, 
ENST00000497267, ENST00000498517, 
Fusion gene scores* DoF score9 X 9 X 7=5679 X 7 X 7=441
# samples 910
** MAII scorelog2(9/567*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/441*10)=-2.1407786557828
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GLB1 [Title/Abstract] AND ARHGEF3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGLB1(33138503)-ARHGEF3(57069204), # 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
HgeneGLB1

GO:0044262

cellular carbohydrate metabolic process

11927518


check buttonFusion gene breakpoints across GLB1 (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 ARHGEF3 (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
ChimerDB4GBMTCGA-32-2638-01AGLB1chr3

33138503

-ARHGEF3chr3

57069204

-


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Fusion Gene ORF analysis for GLB1-ARHGEF3

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-5UTRENST00000307363ENST00000338458GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
5CDS-5UTRENST00000307377ENST00000338458GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
5CDS-5UTRENST00000445488ENST00000338458GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
5CDS-intronENST00000307363ENST00000296315GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
5CDS-intronENST00000307363ENST00000413728GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
5CDS-intronENST00000307363ENST00000495373GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
5CDS-intronENST00000307363ENST00000496106GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
5CDS-intronENST00000307363ENST00000497267GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
5CDS-intronENST00000307363ENST00000498517GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
5CDS-intronENST00000307377ENST00000296315GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
5CDS-intronENST00000307377ENST00000413728GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
5CDS-intronENST00000307377ENST00000495373GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
5CDS-intronENST00000307377ENST00000496106GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
5CDS-intronENST00000307377ENST00000497267GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
5CDS-intronENST00000307377ENST00000498517GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
5CDS-intronENST00000445488ENST00000296315GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
5CDS-intronENST00000445488ENST00000413728GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
5CDS-intronENST00000445488ENST00000495373GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
5CDS-intronENST00000445488ENST00000496106GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
5CDS-intronENST00000445488ENST00000497267GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
5CDS-intronENST00000445488ENST00000498517GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
intron-5UTRENST00000399402ENST00000338458GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
intron-5UTRENST00000497796ENST00000338458GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
intron-intronENST00000399402ENST00000296315GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
intron-intronENST00000399402ENST00000413728GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
intron-intronENST00000399402ENST00000495373GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
intron-intronENST00000399402ENST00000496106GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
intron-intronENST00000399402ENST00000497267GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
intron-intronENST00000399402ENST00000498517GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
intron-intronENST00000497796ENST00000296315GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
intron-intronENST00000497796ENST00000413728GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
intron-intronENST00000497796ENST00000495373GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
intron-intronENST00000497796ENST00000496106GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
intron-intronENST00000497796ENST00000497267GLB1chr3

33138503

-ARHGEF3chr3

57069204

-
intron-intronENST00000497796ENST00000498517GLB1chr3

33138503

-ARHGEF3chr3

57069204

-

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 GLB1-ARHGEF3


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 GLB1-ARHGEF3


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/:33138503/:57069204)
- 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
GLB1

P16278

ARHGEF3

Q8N4T4

FUNCTION: [Isoform 1]: Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans. {ECO:0000269|PubMed:15714521, ECO:0000269|PubMed:19472408, ECO:0000269|PubMed:2511208, ECO:0000269|PubMed:25936995, ECO:0000269|PubMed:8200356}.; FUNCTION: [Isoform 2]: Has no beta-galactosidase catalytic activity, but plays functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to the elastin-binding protein (EBP), a major component of the non-integrin cell surface receptor expressed on fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. In elastin producing cells, associates with tropoelastin intracellularly and functions as a recycling molecular chaperone which facilitates the secretions of tropoelastin and its assembly into elastic fibers. {ECO:0000269|PubMed:10841810, ECO:0000269|PubMed:8922281}.FUNCTION: Promotes cell proliferation. {ECO:0000269|PubMed:22327280}.

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 GLB1-ARHGEF3


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 GLB1-ARHGEF3


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 GLB1-ARHGEF3


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 GLB1-ARHGEF3


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