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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: 42264

FusionGeneSummary for XYLT1_SPN

check button Fusion gene summary
Fusion gene informationFusion gene name: XYLT1_SPN
Fusion gene ID: 42264
HgeneTgene
Gene symbol

XYLT1

SPN

Gene ID

64131

10522

Gene namexylosyltransferase 1DEAF1, transcription factor
SynonymsDBQD2|PXYLT1|XT-I|XT1|XTI|XYLTI|xylT-IMRD24|NUDR|SPN|ZMYND5
Cytomap

16p12.3

11p15.5

Type of geneprotein-codingprotein-coding
Descriptionxylosyltransferase 1beta-D-xylosyltransferase 1peptide O-xylosyltransferase 1xylosyltransferase Ixylosyltransferase iotadeformed epidermal autoregulatory factor 1 homolognuclear DEAF-1-related transcriptional regulatorsuppressinzinc finger MYND domain-containing protein 5
Modification date2018051920180523
UniProtAcc

Q86Y38

P16150

Ensembl transtripts involved in fusion geneENST00000261381, ENST00000568226, 
ENST00000395389, ENST00000360121, 
Fusion gene scores* DoF score7 X 4 X 4=1121 X 1 X 1=1
# samples 61
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneSPN

GO:0000122

negative regulation of transcription by RNA polymerase II

24726472

TgeneSPN

GO:0033599

regulation of mammary gland epithelial cell proliferation

18826651

TgeneSPN

GO:0045892

negative regulation of transcription, DNA-templated

24726472

TgeneSPN

GO:0045893

positive regulation of transcription, DNA-templated

24726472


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
TCGARVSTADTCGA-BR-A4QI-01AXYLT1chr16

17352845

-SPNchr16

29675016

+
* 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
5CDS-5UTRENST00000261381ENST00000395389XYLT1chr16

17352845

-SPNchr16

29675016

+
5CDS-5UTRENST00000261381ENST00000360121XYLT1chr16

17352845

-SPNchr16

29675016

+
intron-5UTRENST00000568226ENST00000395389XYLT1chr16

17352845

-SPNchr16

29675016

+
intron-5UTRENST00000568226ENST00000360121XYLT1chr16

17352845

-SPNchr16

29675016

+

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FusionProtFeatures for XYLT1_SPN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
XYLT1

Q86Y38

SPN

P16150

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}.

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 XYLT1_SPN


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 XYLT1_SPN


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
XYLT1MYC, ADH1C, MEF2ASPNEZR, MSN, LGALS1, DAXX, SHMT2, SLC39A11, SAAL1, EIF2B3, EIF2B5, EIF2B4, EIF2B2, SPAG9, LMNA


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 XYLT1_SPN


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 XYLT1_SPN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneXYLT1C4014294DESBUQUOIS DYSPLASIA 22UNIPROT
HgeneXYLT1C0033847Pseudoxanthoma Elasticum1CTD_human;UNIPROT
HgeneXYLT1C0236969Substance-Related Disorders1CTD_human
TgeneSPNC0006663Calcinosis1CTD_human
TgeneSPNC0018824Heart valve disease1CTD_human