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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: 3709

FusionGeneSummary for B3GAT3_ATP1B2

check button Fusion gene summary
Fusion gene informationFusion gene name: B3GAT3_ATP1B2
Fusion gene ID: 3709
HgeneTgene
Gene symbol

B3GAT3

ATP1B2

Gene ID

26229

482

Gene namebeta-1,3-glucuronyltransferase 3ATPase Na+/K+ transporting subunit beta 2
SynonymsGLCATI|JDSCD|glcUAT-IAMOG
Cytomap

11q12.3

17p13.1

Type of geneprotein-codingprotein-coding
Descriptiongalactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3Sqv-8-like proteinUDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferasebeta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)sodium/potassium-transporting ATPase subunit beta-2ATPase, Na+/K+ transporting, beta 2 polypeptideNa, K-ATPase beta-2 polypeptideadhesion molecule in gliaadhesion molecule on gliasodium pump subunit beta-2sodium-potassium ATPase subunit beta 2 (non-
Modification date2018052320180523
UniProtAcc

O94766

P14415

Ensembl transtripts involved in fusion geneENST00000265471, ENST00000531383, 
ENST00000534026, 
ENST00000250111, 
Fusion gene scores* DoF score2 X 2 X 1=41 X 1 X 1=1
# samples 21
** MAII scorelog2(2/4*10)=2.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: B3GAT3 [Title/Abstract] AND ATP1B2 [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
HgeneB3GAT3

GO:0006024

glycosaminoglycan biosynthetic process

24425863

HgeneB3GAT3

GO:0015012

heparan sulfate proteoglycan biosynthetic process

21763480

HgeneB3GAT3

GO:0043085

positive regulation of catalytic activity

24425863

HgeneB3GAT3

GO:0050650

chondroitin sulfate proteoglycan biosynthetic process

21763480

HgeneB3GAT3

GO:0050651

dermatan sulfate proteoglycan biosynthetic process

21763480

TgeneATP1B2

GO:0006883

cellular sodium ion homeostasis

10636900|19542013

TgeneATP1B2

GO:0010107

potassium ion import

10636900|19542013

TgeneATP1B2

GO:0030007

cellular potassium ion homeostasis

10636900|19542013

TgeneATP1B2

GO:0032781

positive regulation of ATPase activity

10636900

TgeneATP1B2

GO:0036376

sodium ion export across plasma membrane

10636900|19542013

TgeneATP1B2

GO:0050821

protein stabilization

10636900

TgeneATP1B2

GO:0086009

membrane repolarization

19542013

TgeneATP1B2

GO:1901018

positive regulation of potassium ion transmembrane transporter activity

10636900

TgeneATP1B2

GO:1903278

positive regulation of sodium ion export across plasma membrane

10636900

TgeneATP1B2

GO:1903288

positive regulation of potassium ion import

10636900


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
ChiTaRS3.1BU738636B3GAT3chr11

62382807

+ATP1B2chr17

7559565

-
* 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
intron-3UTRENST00000265471ENST00000250111B3GAT3chr11

62382807

+ATP1B2chr17

7559565

-
intron-3UTRENST00000531383ENST00000250111B3GAT3chr11

62382807

+ATP1B2chr17

7559565

-
intron-3UTRENST00000534026ENST00000250111B3GAT3chr11

62382807

+ATP1B2chr17

7559565

-

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FusionProtFeatures for B3GAT3_ATP1B2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
B3GAT3

O94766

ATP1B2

P14415

Glycosaminoglycans biosynthesis (PubMed:25893793).Involved in forming the linkage tetrasaccharide present in heparansulfate and chondroitin sulfate. Transfers a glucuronic acidmoiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) tothe common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycanattachment site of proteoglycans. Can also play a role in thebiosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins.Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl,exhibiting negligible incorporation into other galactosidesubstrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and Galbeta1-4Glc. Stimulates 2-phosphoxylose phosphataseactivity of PXYLP1 in presence of uridine diphosphate-glucuronicacid (UDP-GlcUA) during completion of linkage region formation(PubMed:24425863). {ECO:0000269|PubMed:24425863,ECO:0000269|PubMed:25893793}. This is the non-catalytic component of the activeenzyme, which catalyzes the hydrolysis of ATP coupled with theexchange of Na(+) and K(+) ions across the plasma membrane. Theexact function of the beta-2 subunit is not known. Mediates cell adhesion of neurons and astrocytes, andpromotes neurite outgrowth. {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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for B3GAT3_ATP1B2


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 B3GAT3_ATP1B2


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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RelatedDrugs for B3GAT3_ATP1B2


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 B3GAT3_ATP1B2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneB3GAT3C3278404MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS2ORPHANET;UNIPROT
HgeneB3GAT3C0376634Craniofacial Abnormalities1CTD_human
TgeneATP1B2C0017638Glioma1CTD_human
TgeneATP1B2C0279626Squamous cell carcinoma of esophagus1CTD_human