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Fusion gene ID: 3709 |
FusionGeneSummary for B3GAT3_ATP1B2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: B3GAT3_ATP1B2 | Fusion gene ID: 3709 | Hgene | Tgene | Gene symbol | B3GAT3 | ATP1B2 | Gene ID | 26229 | 482 |
Gene name | beta-1,3-glucuronyltransferase 3 | ATPase Na+/K+ transporting subunit beta 2 | |
Synonyms | GLCATI|JDSCD|glcUAT-I | AMOG | |
Cytomap | 11q12.3 | 17p13.1 | |
Type of gene | protein-coding | protein-coding | |
Description | galactosylgalactosylxylosylprotein 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 date | 20180523 | 20180523 | |
UniProtAcc | O94766 | P14415 | |
Ensembl transtripts involved in fusion gene | ENST00000265471, ENST00000531383, ENST00000534026, | ENST00000250111, | |
Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 1 X 1 X 1=1 |
# samples | 2 | 1 | |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | B3GAT3 | GO:0006024 | glycosaminoglycan biosynthetic process | 24425863 |
Hgene | B3GAT3 | GO:0015012 | heparan sulfate proteoglycan biosynthetic process | 21763480 |
Hgene | B3GAT3 | GO:0043085 | positive regulation of catalytic activity | 24425863 |
Hgene | B3GAT3 | GO:0050650 | chondroitin sulfate proteoglycan biosynthetic process | 21763480 |
Hgene | B3GAT3 | GO:0050651 | dermatan sulfate proteoglycan biosynthetic process | 21763480 |
Tgene | ATP1B2 | GO:0006883 | cellular sodium ion homeostasis | 10636900|19542013 |
Tgene | ATP1B2 | GO:0010107 | potassium ion import | 10636900|19542013 |
Tgene | ATP1B2 | GO:0030007 | cellular potassium ion homeostasis | 10636900|19542013 |
Tgene | ATP1B2 | GO:0032781 | positive regulation of ATPase activity | 10636900 |
Tgene | ATP1B2 | GO:0036376 | sodium ion export across plasma membrane | 10636900|19542013 |
Tgene | ATP1B2 | GO:0050821 | protein stabilization | 10636900 |
Tgene | ATP1B2 | GO:0086009 | membrane repolarization | 19542013 |
Tgene | ATP1B2 | GO:1901018 | positive regulation of potassium ion transmembrane transporter activity | 10636900 |
Tgene | ATP1B2 | GO:1903278 | positive regulation of sodium ion export across plasma membrane | 10636900 |
Tgene | ATP1B2 | GO:1903288 | positive regulation of potassium ion import | 10636900 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BU738636 | B3GAT3 | chr11 | 62382807 | + | ATP1B2 | chr17 | 7559565 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3UTR | ENST00000265471 | ENST00000250111 | B3GAT3 | chr11 | 62382807 | + | ATP1B2 | chr17 | 7559565 | - |
intron-3UTR | ENST00000531383 | ENST00000250111 | B3GAT3 | chr11 | 62382807 | + | ATP1B2 | chr17 | 7559565 | - |
intron-3UTR | ENST00000534026 | ENST00000250111 | B3GAT3 | chr11 | 62382807 | + | ATP1B2 | chr17 | 7559565 | - |
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FusionProtFeatures for B3GAT3_ATP1B2 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
B3GAT3 | ATP1B2 |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for B3GAT3_ATP1B2 |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for B3GAT3_ATP1B2 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for B3GAT3_ATP1B2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | B3GAT3 | C3278404 | MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS | 2 | ORPHANET;UNIPROT |
Hgene | B3GAT3 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Tgene | ATP1B2 | C0017638 | Glioma | 1 | CTD_human |
Tgene | ATP1B2 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |