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Fusion gene ID: 27881 |
FusionGeneSummary for POFUT1_CCDC50 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: POFUT1_CCDC50 | Fusion gene ID: 27881 | Hgene | Tgene | Gene symbol | POFUT1 | CCDC50 | Gene ID | 23509 | 152137 |
| Gene name | protein O-fucosyltransferase 1 | coiled-coil domain containing 50 | |
| Synonyms | DDD2|FUT12|O-FUT|O-Fuc-T|O-FucT-1|OFUCT1 | C3orf6|DFNA44|YMER | |
| Cytomap | 20q11.21 | 3q28 | |
| Type of gene | protein-coding | protein-coding | |
| Description | GDP-fucose protein O-fucosyltransferase 1o-fucosyltransferase proteinpeptide-O-fucosyltransferase 1 | coiled-coil domain-containing protein 50protein Ymer | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q9H488 | Q8IVM0 | |
| Ensembl transtripts involved in fusion gene | ENST00000375749, ENST00000375730, ENST00000539210, ENST00000486717, | ENST00000392455, ENST00000392456, | |
| Fusion gene scores | * DoF score | 7 X 5 X 6=210 | 5 X 3 X 4=60 |
| # samples | 9 | 5 | |
| ** MAII score | log2(9/210*10)=-1.22239242133645 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: POFUT1 [Title/Abstract] AND CCDC50 [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 | POFUT1 | GO:0006493 | protein O-linked glycosylation | 9023546|11524432 |
| Hgene | POFUT1 | GO:0036066 | protein O-linked fucosylation | 15653671 |
| 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 | AI970153 | POFUT1 | chr20 | 30822765 | - | CCDC50 | chr3 | 191089477 | - |
| * 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 |
| 3UTR-intron | ENST00000375749 | ENST00000392455 | POFUT1 | chr20 | 30822765 | - | CCDC50 | chr3 | 191089477 | - |
| 3UTR-intron | ENST00000375749 | ENST00000392456 | POFUT1 | chr20 | 30822765 | - | CCDC50 | chr3 | 191089477 | - |
| intron-intron | ENST00000375730 | ENST00000392455 | POFUT1 | chr20 | 30822765 | - | CCDC50 | chr3 | 191089477 | - |
| intron-intron | ENST00000375730 | ENST00000392456 | POFUT1 | chr20 | 30822765 | - | CCDC50 | chr3 | 191089477 | - |
| intron-intron | ENST00000539210 | ENST00000392455 | POFUT1 | chr20 | 30822765 | - | CCDC50 | chr3 | 191089477 | - |
| intron-intron | ENST00000539210 | ENST00000392456 | POFUT1 | chr20 | 30822765 | - | CCDC50 | chr3 | 191089477 | - |
| intron-intron | ENST00000486717 | ENST00000392455 | POFUT1 | chr20 | 30822765 | - | CCDC50 | chr3 | 191089477 | - |
| intron-intron | ENST00000486717 | ENST00000392456 | POFUT1 | chr20 | 30822765 | - | CCDC50 | chr3 | 191089477 | - |
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FusionProtFeatures for POFUT1_CCDC50 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| POFUT1 | CCDC50 |
| Catalyzes the reaction that attaches fucose through anO-glycosidic linkage to a conserved serine or threonine residuefound in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains,where C2 and C3 are the second and third conserved cysteines.Specifically uses GDP-fucose as donor substrate and properdisulfide pairing of the substrate EGF domains is required forfucose transfer. Plays a crucial role in NOTCH signaling. Initialfucosylation of NOTCH by POFUT1 generates a substrate forFRINGE/RFNG, an acetylglucosaminyltransferase that can then extendthe fucosylation on the NOTCH EGF repeats. This extendedfucosylation is required for optimal ligand binding and canonicalNOTCH signaling induced by DLL1 or JAGGED1. Fucosylates AGRN anddetermines its ability to cluster acetylcholine receptors (AChRs).{ECO:0000269|PubMed:11524432, ECO:0000269|PubMed:28334865,ECO:0000269|PubMed:8358148}. | Involved in EGFR signaling.{ECO:0000269|PubMed:15314609}. |
| 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 POFUT1_CCDC50 |
| 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 POFUT1_CCDC50 |
| 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 POFUT1_CCDC50 |
| 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 POFUT1_CCDC50 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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