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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:B3GALNT2-GNG4 (FusionGDB2 ID:HG148789TG2786)

Fusion Gene Summary for B3GALNT2-GNG4

check button Fusion gene summary
Fusion gene informationFusion gene name: B3GALNT2-GNG4
Fusion gene ID: hg148789tg2786
HgeneTgene
Gene symbol

B3GALNT2

GNG4

Gene ID

148789

2786

Gene namebeta-1,3-N-acetylgalactosaminyltransferase 2G protein subunit gamma 4
SynonymsB3GalNAc-T2|MDDGA11-
Cytomap('B3GALNT2')('GNG4')

1q42.3

1q42.3

Type of geneprotein-codingprotein-coding
DescriptionUDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2beta-1,3-GalNAc-T2guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4guanine nucleotide binding protein (G protein), gamma 4guanine nucleotide binding protein 4
Modification date2020031320200313
UniProtAcc

Q8NCR0

.
Ensembl transtripts involved in fusion geneENST00000313984, ENST00000366600, 
ENST00000494378, 
Fusion gene scores* DoF score7 X 8 X 7=3925 X 4 X 3=60
# samples 85
** MAII scorelog2(8/392*10)=-2.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: B3GALNT2 [Title/Abstract] AND GNG4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointB3GALNT2(235657991)-GNG4(235715537), # samples:1
Anticipated loss of major functional domain due to fusion event.B3GALNT2-GNG4 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism 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
HgeneB3GALNT2

GO:0006493

protein O-linked glycosylation

23929950


check buttonFusion gene breakpoints across B3GALNT2 (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 GNG4 (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
* 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
ChimerDB4LUSCTCGA-56-8082-01AB3GALNT2chr1

235657991

-GNG4chr1

235715537

-


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Fusion Gene ORF analysis for B3GALNT2-GNG4

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-5UTRENST00000313984ENST00000484517B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
5CDS-5UTRENST00000366600ENST00000484517B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
5UTR-3CDSENST00000494378ENST00000366597B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
5UTR-3CDSENST00000494378ENST00000366598B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
5UTR-3CDSENST00000494378ENST00000391854B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
5UTR-3CDSENST00000494378ENST00000450593B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
5UTR-5UTRENST00000494378ENST00000484517B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
Frame-shiftENST00000313984ENST00000366597B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
Frame-shiftENST00000313984ENST00000366598B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
Frame-shiftENST00000313984ENST00000450593B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
Frame-shiftENST00000366600ENST00000366597B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
Frame-shiftENST00000366600ENST00000366598B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
Frame-shiftENST00000366600ENST00000450593B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
In-frameENST00000313984ENST00000391854B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
In-frameENST00000366600ENST00000391854B3GALNT2chr1

235657991

-GNG4chr1

235715537

-

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 B3GALNT2-GNG4


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.
genomic feature

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Fusion Protein Features for B3GALNT2-GNG4


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/chr1:235657991/chr1:235715537)
- 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
B3GALNT2

Q8NCR0

.
FUNCTION: Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl transferase activity toward any acceptor substrate. Involved in alpha-dystroglycan (DAG1) glycosylation: acts coordinately with GTDC2/POMGnT2 to synthesize a GalNAc-beta3-GlcNAc-beta-terminus at the 4-position of protein O-mannose in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan, which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. {ECO:0000269|PubMed:14724282, ECO:0000269|PubMed:23453667, ECO:0000269|PubMed:23929950}.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
HgeneB3GALNT2chr1:235657991chr1:235715537ENST00000313984-381_6127327.0Topological domainCytoplasmic
HgeneB3GALNT2chr1:235657991chr1:235715537ENST00000366600-2121_686501.0Topological domainCytoplasmic
HgeneB3GALNT2chr1:235657991chr1:235715537ENST00000313984-387_23127327.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneB3GALNT2chr1:235657991chr1:235715537ENST00000366600-2127_2386501.0TransmembraneHelical%3B Signal-anchor for type II membrane protein

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneB3GALNT2chr1:235657991chr1:235715537ENST00000313984-3824_500127327.0Topological domainLumenal
HgeneB3GALNT2chr1:235657991chr1:235715537ENST00000366600-21224_50086501.0Topological domainLumenal


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Fusion Gene Sequence for B3GALNT2-GNG4


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 B3GALNT2-GNG4


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 B3GALNT2-GNG4


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 B3GALNT2-GNG4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneB3GALNT2C0265221Walker-Warburg congenital muscular dystrophy1CTD_human;ORPHANET
HgeneB3GALNT2C0457133Muscle eye brain disease1CTD_human;ORPHANET
HgeneB3GALNT2C3554638MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 111GENOMICS_ENGLAND;UNIPROT