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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for EXT2 |
 Gene summary |
| Gene information | Gene symbol | EXT2 | Gene ID | 2132 |
| Gene name | exostosin glycosyltransferase 2 | |
| Synonyms | SOTV|SSMS | |
| Cytomap | 11p11.2 | |
| Type of gene | protein-coding | |
| Description | exostosin-2N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferaseglucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferasemultiple exostoses protein 2multiple exostosis 2putativ | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| EXT2 | GO:0006024 | glycosaminoglycan biosynthetic process | 12907669 |
| EXT2 | GO:0033692 | cellular polysaccharide biosynthetic process | 12907669 |
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Gene structures and expression levels for EXT2 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000151348
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| IFG | UP | ENST00000395673.7 | EXT2-203:protein_coding:EXT2 | 3.427006e+01 | 2.328564e+01 | 4.817522e-25 | 5.794612e-20 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for EXT2 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_139682 | chr11 | 44103707:44103745:44104617:44104783:44107683:44107859 | 44104617:44104783 |
| exon_skip_202444 | chr11 | 44114185:44114301:44124789:44124984:44126816:44126955 | 44124789:44124984 |
| exon_skip_225972 | chr11 | 44171611:44171742:44197829:44198018:44206793:44206959 | 44197829:44198018 |
| exon_skip_248510 | chr11 | 44095717:44095852:44103707:44103745:44107683:44107824 | 44103707:44103745 |
| exon_skip_257779 | chr11 | 44095717:44095852:44103707:44103745:44107683:44107859 | 44103707:44103745 |
| exon_skip_262365 | chr11 | 44126903:44126955:44130045:44130138:44171611:44171742 | 44130045:44130138 |
| exon_skip_268950 | chr11 | 44095679:44095852:44103707:44103745:44107683:44107859 | 44103707:44103745 |
| exon_skip_286659 | chr11 | 44095679:44095852:44103707:44103745:44107683:44108049 | 44103707:44103745 |
| exon_skip_33107 | chr11 | 44124869:44124984:44126816:44126955:44130045:44130138 | 44126816:44126955 |
| exon_skip_37500 | chr11 | 44095827:44095852:44103707:44103745:44107683:44107859 | 44103707:44103745 |
| exon_skip_40630 | chr11 | 44234115:44234243:44236293:44236375:44244149:44244301 | 44236293:44236375 |
| exon_skip_82176 | chr11 | 44171674:44171742:44197829:44198018:44206793:44206959 | 44197829:44198018 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for EXT2 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000343631 | 44124789 | 44124984 | Frame-shift |
| ENST00000533608 | 44124789 | 44124984 | Frame-shift |
| ENST00000343631 | 44126816 | 44126955 | Frame-shift |
| ENST00000533608 | 44126816 | 44126955 | Frame-shift |
| ENST00000343631 | 44130045 | 44130138 | Frame-shift |
| ENST00000533608 | 44130045 | 44130138 | Frame-shift |
| ENST00000343631 | 44197829 | 44198018 | Frame-shift |
| ENST00000533608 | 44197829 | 44198018 | Frame-shift |
| ENST00000343631 | 44236293 | 44236375 | Frame-shift |
| ENST00000533608 | 44236293 | 44236375 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000343631 | 44126816 | 44126955 | Frame-shift |
| ENST00000533608 | 44126816 | 44126955 | Frame-shift |
| ENST00000343631 | 44130045 | 44130138 | Frame-shift |
| ENST00000533608 | 44130045 | 44130138 | Frame-shift |
| ENST00000343631 | 44197829 | 44198018 | Frame-shift |
| ENST00000533608 | 44197829 | 44198018 | Frame-shift |
| ENST00000343631 | 44236293 | 44236375 | Frame-shift |
| ENST00000533608 | 44236293 | 44236375 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000343631 | 44124789 | 44124984 | Frame-shift |
| ENST00000533608 | 44124789 | 44124984 | Frame-shift |
| ENST00000343631 | 44126816 | 44126955 | Frame-shift |
| ENST00000533608 | 44126816 | 44126955 | Frame-shift |
| ENST00000343631 | 44130045 | 44130138 | Frame-shift |
| ENST00000533608 | 44130045 | 44130138 | Frame-shift |
| ENST00000343631 | 44197829 | 44198018 | Frame-shift |
| ENST00000533608 | 44197829 | 44198018 | Frame-shift |
| ENST00000343631 | 44236293 | 44236375 | Frame-shift |
| ENST00000533608 | 44236293 | 44236375 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for EXT2 |
p-ENSG00000151348_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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3'-UTR located exon skipping events that lost miRNA binding sites in EXT2 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for EXT2 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for EXT2 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EXT2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_262365 | rs178523 | chr11:44075676 | 4.924655e-06 | 1.409050e-03 |
| CB | exon_skip_262365 | rs2863054 | chr11:44216628 | 5.959394e-05 | 1.145123e-02 |
| DLPFC | exon_skip_262365 | rs10838231 | chr11:44091423 | 1.358539e-07 | 2.450696e-05 |
| DLPFC | exon_skip_262365 | rs178523 | chr11:44075676 | 1.774203e-07 | 3.100086e-05 |
| DLPFC | exon_skip_262365 | rs1080101 | chr11:44082672 | 1.774203e-07 | 3.100086e-05 |
| DLPFC | exon_skip_262365 | rs178528 | chr11:44080009 | 2.201491e-07 | 3.733438e-05 |
| DLPFC | exon_skip_262365 | rs12790182 | chr11:44229827 | 5.750746e-07 | 8.919436e-05 |
| DLPFC | exon_skip_262365 | rs4379834 | chr11:44136888 | 9.128080e-07 | 1.367517e-04 |
| DLPFC | exon_skip_262365 | rs4551754 | chr11:44149906 | 1.095894e-06 | 1.594612e-04 |
| DLPFC | exon_skip_262365 | rs4755782 | chr11:44146446 | 4.058999e-04 | 2.739504e-02 |
| DLPFC | exon_skip_262365 | rs1390073 | chr11:44189089 | 4.058999e-04 | 2.739504e-02 |
| DLPFC | exon_skip_262365 | rs7945703 | chr11:44142287 | 6.814621e-04 | 4.127282e-02 |
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Correlation with RNA binding proteins (RBPs) for EXT2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for EXT2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for EXT2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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