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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 3699

FusionGeneSummary for B3GALNT2_GNG4

check button Fusion gene summary
Fusion gene informationFusion gene name: B3GALNT2_GNG4
Fusion gene ID: 3699
HgeneTgene
Gene symbol

B3GALNT2

GNG4

Gene ID

148789

2786

Gene namebeta-1,3-N-acetylgalactosaminyltransferase 2G protein subunit gamma 4
SynonymsB3GalNAc-T2|MDDGA11-
Cytomap

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 date2018052320180523
UniProtAcc

Q8NCR0

P50150

Ensembl transtripts involved in fusion geneENST00000366600, ENST00000313984, 
ENST00000494378, 
ENST00000391854, 
ENST00000450593, ENST00000366598, 
ENST00000366597, ENST00000484517, 
Fusion gene scores* DoF score3 X 3 X 3=272 X 2 X 2=8
# samples 32
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

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

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDLUSCTCGA-56-8082-01AB3GALNT2chr1

235657991

-GNG4chr1

235715537

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-frameENST00000366600ENST00000391854B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
Frame-shiftENST00000366600ENST00000450593B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
Frame-shiftENST00000366600ENST00000366598B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
Frame-shiftENST00000366600ENST00000366597B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
5CDS-5UTRENST00000366600ENST00000484517B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
In-frameENST00000313984ENST00000391854B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
Frame-shiftENST00000313984ENST00000450593B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
Frame-shiftENST00000313984ENST00000366598B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
Frame-shiftENST00000313984ENST00000366597B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
5CDS-5UTRENST00000313984ENST00000484517B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
5UTR-3CDSENST00000494378ENST00000391854B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
5UTR-3CDSENST00000494378ENST00000450593B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
5UTR-3CDSENST00000494378ENST00000366598B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
5UTR-3CDSENST00000494378ENST00000366597B3GALNT2chr1

235657991

-GNG4chr1

235715537

-
5UTR-5UTRENST00000494378ENST00000484517B3GALNT2chr1

235657991

-GNG4chr1

235715537

-

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FusionProtFeatures for B3GALNT2_GNG4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
B3GALNT2

Q8NCR0

GNG4

P50150

Beta-1,3-N-acetylgalactosaminyltransferase thatsynthesizes a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyltransferase activity toward any acceptor substrate. Involved inalpha-dystroglycan (DAG1) glycosylation: acts coordinately withGTDC2/POMGnT2 to synthesize a GalNAc-beta3-GlcNAc-beta-terminus atthe 4-position of protein O-mannose in the biosynthesis of thephosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), acarbohydrate structure present in alpha-dystroglycan, which isrequired for binding laminin G-like domain-containingextracellular proteins with high affinity.{ECO:0000269|PubMed:14724282, ECO:0000269|PubMed:23453667,ECO:0000269|PubMed:23929950}. Guanine nucleotide-binding proteins (G proteins) areinvolved as a modulator or transducer in various transmembranesignaling systems. The beta and gamma chains are required for theGTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. {ECO:0000305}.

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_6127327Topological domainCytoplasmic
HgeneB3GALNT2chr1:235657991chr1:235715537ENST00000366600-2121_686501Topological domainCytoplasmic
HgeneB3GALNT2chr1:235657991chr1:235715537ENST00000313984-387_23127327TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneB3GALNT2chr1:235657991chr1:235715537ENST00000366600-2127_2386501TransmembraneHelical%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_500127327Topological domainLumenal
HgeneB3GALNT2chr1:235657991chr1:235715537ENST00000366600-21224_50086501Topological domainLumenal


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FusionGeneSequence for B3GALNT2_GNG4


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
B3GALNT2FBXO6, NXF1, NRG1, IDS, PARP16, AGMAT, SFRP4, CHST8, FBXW7, OS9, EIF2B2, YY1AP1, TAZ, TRIM25GNG4GNB5, GNB1, RAF1, GNB2, GNB3, GNB4, TFIP11, USHBP1, GNAI1, GNAI2, GNAI3, GNAS, MOSPD2, GNAQ, PDCL, GNA13, GNA11


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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RelatedDrugs for B3GALNT2_GNG4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for B3GALNT2_GNG4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneB3GALNT2C3554638MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 111UNIPROT