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Fusion gene ID: 42264 |
FusionGeneSummary for XYLT1_SPN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: XYLT1_SPN | Fusion gene ID: 42264 | Hgene | Tgene | Gene symbol | XYLT1 | SPN | Gene ID | 64131 | 10522 |
| Gene name | xylosyltransferase 1 | DEAF1, transcription factor | |
| Synonyms | DBQD2|PXYLT1|XT-I|XT1|XTI|XYLTI|xylT-I | MRD24|NUDR|SPN|ZMYND5 | |
| Cytomap | 16p12.3 | 11p15.5 | |
| Type of gene | protein-coding | protein-coding | |
| Description | xylosyltransferase 1beta-D-xylosyltransferase 1peptide O-xylosyltransferase 1xylosyltransferase Ixylosyltransferase iota | deformed epidermal autoregulatory factor 1 homolognuclear DEAF-1-related transcriptional regulatorsuppressinzinc finger MYND domain-containing protein 5 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q86Y38 | P16150 | |
| Ensembl transtripts involved in fusion gene | ENST00000261381, ENST00000568226, | ENST00000395389, ENST00000360121, | |
| Fusion gene scores | * DoF score | 7 X 4 X 4=112 | 1 X 1 X 1=1 |
| # samples | 6 | 1 | |
| ** MAII score | log2(6/112*10)=-0.900464326449086 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: XYLT1 [Title/Abstract] AND SPN [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 |
| Tgene | SPN | GO:0000122 | negative regulation of transcription by RNA polymerase II | 24726472 |
| Tgene | SPN | GO:0033599 | regulation of mammary gland epithelial cell proliferation | 18826651 |
| Tgene | SPN | GO:0045892 | negative regulation of transcription, DNA-templated | 24726472 |
| Tgene | SPN | GO:0045893 | positive regulation of transcription, DNA-templated | 24726472 |
| 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 | STAD | TCGA-BR-A4QI-01A | XYLT1 | chr16 | 17352845 | - | SPN | chr16 | 29675016 | + |
| * 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 |
| 5CDS-5UTR | ENST00000261381 | ENST00000395389 | XYLT1 | chr16 | 17352845 | - | SPN | chr16 | 29675016 | + |
| 5CDS-5UTR | ENST00000261381 | ENST00000360121 | XYLT1 | chr16 | 17352845 | - | SPN | chr16 | 29675016 | + |
| intron-5UTR | ENST00000568226 | ENST00000395389 | XYLT1 | chr16 | 17352845 | - | SPN | chr16 | 29675016 | + |
| intron-5UTR | ENST00000568226 | ENST00000360121 | XYLT1 | chr16 | 17352845 | - | SPN | chr16 | 29675016 | + |
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FusionProtFeatures for XYLT1_SPN |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| XYLT1 | SPN |
| Catalyzes the first step in the biosynthesis ofchondroitin sulfate and dermatan sulfate proteoglycans, such asDCN. Transfers D-xylose from UDP-D-xylose to specific serineresidues of the core protein (PubMed:15461586, PubMed:17189265,PubMed:24581741, PubMed:23982343). Required for normal embryonicand postnatal skeleton development, especially of the long bones(PubMed:24581741, PubMed:23982343). Required for normal maturationof chondrocytes during bone development, and normal onset ofossification (By similarity). {ECO:0000250|UniProtKB:Q811B1,ECO:0000269|PubMed:15461586, ECO:0000269|PubMed:17189265,ECO:0000269|PubMed:23982343, ECO:0000269|PubMed:24581741}. | Predominant cell surface sialoprotein of leukocyteswhich regulates multiple T-cell functions, including T-cellactivation, proliferation, differentiation, trafficking andmigration. Positively regulates T-cell trafficking to lymph-nodesvia its association with ERM proteins (EZR, RDX and MSN) (Bysimilarity). Negatively regulates Th2 cell differentiation andpredisposes the differentiation of T-cells towards a Th1 lineagecommitment. Promotes the expression of IFN-gamma by T-cells duringT-cell receptor (TCR) activation of naive cells and induces theexpression of IFN-gamma by CD4(+) T-cells and to a lesser extentby CD8(+) T-cells (PubMed:18036228). Plays a role in preparing T-cells for cytokine sensing and differentiation into effector cellsby inducing the expression of cytokine receptors IFNGR and IL4R,promoting IFNGR and IL4R signaling and by mediating the clusteringof IFNGR with TCR (PubMed:24328034). Acts as a major E-selectinligand responsible for Th17 cell rolling on activated vasculatureand recruitment during inflammation. Mediates Th17 cells, but notTh1 cells, adhesion to E-selectin. Acts as a T-cell counter-receptor for SIGLEC1 (By similarity).{ECO:0000250|UniProtKB:P15702, ECO:0000269|PubMed:18036228,ECO:0000269|PubMed:24328034}. CD43 cytoplasmic tail: Protects cells from apoptoticsignals, promoting cell survival. {ECO:0000250|UniProtKB:P15702}. |
| 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 XYLT1_SPN |
| 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 XYLT1_SPN |
| 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 |
| XYLT1 | MYC, ADH1C, MEF2A | SPN | EZR, MSN, LGALS1, DAXX, SHMT2, SLC39A11, SAAL1, EIF2B3, EIF2B5, EIF2B4, EIF2B2, SPAG9, LMNA |
| - 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 XYLT1_SPN |
| 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 XYLT1_SPN |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | XYLT1 | C4014294 | DESBUQUOIS DYSPLASIA 2 | 2 | UNIPROT |
| Hgene | XYLT1 | C0033847 | Pseudoxanthoma Elasticum | 1 | CTD_human;UNIPROT |
| Hgene | XYLT1 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| Tgene | SPN | C0006663 | Calcinosis | 1 | CTD_human |
| Tgene | SPN | C0018824 | Heart valve disease | 1 | CTD_human |
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