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Fusion gene ID: 3712 |
FusionGeneSummary for B3GNT3_INSL3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: B3GNT3_INSL3 | Fusion gene ID: 3712 | Hgene | Tgene | Gene symbol | B3GNT3 | INSL3 | Gene ID | 10331 | 3640 |
| Gene name | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 | insulin like 3 | |
| Synonyms | B3GAL-T8|B3GN-T3|B3GNT-3|HP10328|TMEM3|beta3Gn-T3 | RLF|RLNL|ley-I-L | |
| Cytomap | 19p13.11 | 19p13.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 8UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 8beta-1,3-GalTase 8beta-1,3-Gn-T3beta-1,3-N-acetylglucosaminyltr | insulin-like 3insulin-like 3 (Leydig cell)leydig insulin -like hormoneleydig insulin-like peptideprepro-INSL3relaxin-like factor b | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9Y2A9 | P51460 | |
| Ensembl transtripts involved in fusion gene | ENST00000318683, ENST00000595387, | ENST00000317306, ENST00000379695, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 1 X 2=6 |
| # samples | 1 | 3 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(3/6*10)=2.32192809488736 | |
| Context | PubMed: B3GNT3 [Title/Abstract] AND INSL3 [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 | B3GNT3 | GO:0030311 | poly-N-acetyllactosamine biosynthetic process | 11042166 |
| Tgene | INSL3 | GO:0010634 | positive regulation of epithelial cell migration | 23539510 |
| Tgene | INSL3 | GO:0090303 | positive regulation of wound healing | 23539510 |
| 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 |
| TCGA | RV | UCEC | TCGA-D1-A3JP-01A | B3GNT3 | chr19 | 17906015 | + | INSL3 | chr19 | 17927868 | - |
| * 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 |
| 5UTR-3CDS | ENST00000318683 | ENST00000317306 | B3GNT3 | chr19 | 17906015 | + | INSL3 | chr19 | 17927868 | - |
| 5UTR-3CDS | ENST00000318683 | ENST00000379695 | B3GNT3 | chr19 | 17906015 | + | INSL3 | chr19 | 17927868 | - |
| 5UTR-3CDS | ENST00000595387 | ENST00000317306 | B3GNT3 | chr19 | 17906015 | + | INSL3 | chr19 | 17927868 | - |
| 5UTR-3CDS | ENST00000595387 | ENST00000379695 | B3GNT3 | chr19 | 17906015 | + | INSL3 | chr19 | 17927868 | - |
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FusionProtFeatures for B3GNT3_INSL3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| B3GNT3 | INSL3 |
| Beta-1,3-N-acetylglucosaminyltransferase involved in thesynthesis of poly-N-acetyllactosamine. Has activity for type 2oligosaccharides (PubMed:11042166). Also acts as a core1-1,3-N-acetylglucosaminyltransferase (Core1-beta3GlcNAcT) to form the 6-sulfo sialyl Lewis x on extended core1 O-glycans(PubMed:11439191). {ECO:0000269|PubMed:11042166,ECO:0000269|PubMed:11439191}. | Seems to play a role in testicular function. May be atrophic hormone with a role in testicular descent in fetal life.Is a ligand for LGR8 receptor. |
| 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 B3GNT3_INSL3 |
| 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 B3GNT3_INSL3 |
| 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 |
| B3GNT3 | MBOAT7, KDELC1, SLC30A5, PIGU, GHITM, GALNT12, TUBB8, CSGALNACT2, SLC30A6, DSTYK, SLC30A7, FECH, PIGK, AMIGO1, SEPN1, C6orf120, HS6ST1, GALNT7, LRFN3, CD19, PGRMC1, CANX | INSL3 | RXFP2, MBD3, GAPDHS, CHAF1B, UBAC1, IREB2, RNF123, NSUN4, MTERF4 |
| - 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 B3GNT3_INSL3 |
| 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 B3GNT3_INSL3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | INSL3 | C0010417 | Cryptorchidism | 5 | CTD_human;UNIPROT |
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