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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 STXBP5L |
 Gene summary |
| Gene information | Gene symbol | STXBP5L | Gene ID | 9515 |
| Gene name | syntaxin binding protein 5 like | |
| Synonyms | LLGL4 | |
| Cytomap | 3q13.33 | |
| Type of gene | protein-coding | |
| Description | syntaxin-binding protein 5-likelethal(2) giant larvae protein homolog 4tomosyn-2tomosyn-like | |
| 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 |
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Gene structures and expression levels for STXBP5L |
| 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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ENSG00000145087
| 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 |
| PG | DOWN | ENST00000471454.5 | STXBP5L-204:protein_coding:STXBP5L | 2.350774e+02 | -9.154950e-01 | 7.997833e-05 | 2.329046e-03 |
| PG | UP | ENST00000471262.1 | STXBP5L-203:protein_coding:STXBP5L | 3.760600e+00 | 3.854543e+00 | 1.309336e-03 | 1.769821e-02 |
| 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 STXBP5L |
| 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_108480 | chr3 | 121415857:121415968:121418337:121418557:121419056:121419095 | 121418337:121418557 |
| exon_skip_122709 | chr3 | 121233616:121233688:121238971:121239118:121240440:121240507 | 121238971:121239118 |
| exon_skip_125367 | chr3 | 121407243:121407603:121413158:121413323:121415857:121415968 | 121413158:121413323 |
| exon_skip_141845 | chr3 | 121259043:121259168:121279805:121279956:121318475:121318540 | 121279805:121279956 |
| exon_skip_1430 | chr3 | 121121641:121121704:121152477:121152560:121157504:121157627 | 121152477:121152560 |
| exon_skip_148321 | chr3 | 121254895:121255112:121257161:121257333:121259043:121259168 | 121257161:121257333 |
| exon_skip_16534 | chr3 | 121240440:121240507:121250723:121250763:121254895:121255112 | 121250723:121250763 |
| exon_skip_202543 | chr3 | 121318475:121318540:121378716:121378886:121381293:121381532 | 121378716:121378886 |
| exon_skip_244228 | chr3 | 121157504:121157627:121205923:121206001:121223003:121223157 | 121205923:121206001 |
| exon_skip_245348 | chr3 | 121279805:121279956:121282266:121282337:121318475:121318540 | 121282266:121282337 |
| exon_skip_60859 | chr3 | 121152477:121152560:121157504:121157627:121205923:121206001 | 121157504:121157627 |
| 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 STXBP5L |
| 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 |
| ENST00000273666 | 121157504 | 121157627 | Frame-shift |
| ENST00000273666 | 121205923 | 121206001 | Frame-shift |
| ENST00000273666 | 121238971 | 121239118 | Frame-shift |
| ENST00000273666 | 121250723 | 121250763 | Frame-shift |
| ENST00000273666 | 121257161 | 121257333 | Frame-shift |
| ENST00000273666 | 121152477 | 121152560 | In-frame |
| ENST00000273666 | 121282266 | 121282337 | In-frame |
| ENST00000273666 | 121378716 | 121378886 | In-frame |
| 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 |
| ENST00000273666 | 121157504 | 121157627 | Frame-shift |
| ENST00000273666 | 121205923 | 121206001 | Frame-shift |
| ENST00000273666 | 121238971 | 121239118 | Frame-shift |
| ENST00000273666 | 121250723 | 121250763 | Frame-shift |
| ENST00000273666 | 121413158 | 121413323 | Frame-shift |
| ENST00000273666 | 121418337 | 121418557 | Frame-shift |
| ENST00000273666 | 121152477 | 121152560 | In-frame |
| ENST00000273666 | 121282266 | 121282337 | In-frame |
| 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 |
| ENST00000273666 | 121157504 | 121157627 | Frame-shift |
| ENST00000273666 | 121205923 | 121206001 | Frame-shift |
| ENST00000273666 | 121238971 | 121239118 | Frame-shift |
| ENST00000273666 | 121250723 | 121250763 | Frame-shift |
| ENST00000273666 | 121257161 | 121257333 | Frame-shift |
| ENST00000273666 | 121413158 | 121413323 | Frame-shift |
| ENST00000273666 | 121152477 | 121152560 | In-frame |
| ENST00000273666 | 121282266 | 121282337 | In-frame |
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Infer the effects of exon skipping event on protein functional features for STXBP5L |
p-ENSG00000145087_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 |
| ENST00000273666 | 9513 | 1186 | 121152477 | 121152560 | 942 | 1024 | 223 | 251 |
| ENST00000273666 | 9513 | 1186 | 121282266 | 121282337 | 2383 | 2453 | 704 | 727 |
| ENST00000273666 | 9513 | 1186 | 121378716 | 121378886 | 2521 | 2690 | 750 | 806 |
| 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 |
| ENST00000273666 | 9513 | 1186 | 121152477 | 121152560 | 942 | 1024 | 223 | 251 |
| ENST00000273666 | 9513 | 1186 | 121282266 | 121282337 | 2383 | 2453 | 704 | 727 |
| 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 |
| ENST00000273666 | 9513 | 1186 | 121152477 | 121152560 | 942 | 1024 | 223 | 251 |
| ENST00000273666 | 9513 | 1186 | 121282266 | 121282337 | 2383 | 2453 | 704 | 727 |
| 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 |
| Q9Y2K9 | 223 | 251 | 75 | 1186 | Alternative sequence | ID=VSP_016294;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9Y2K9 | 223 | 251 | 1 | 1186 | Chain | ID=PRO_0000051247;Note=Syntaxin-binding protein 5-like |
| Q9Y2K9 | 223 | 251 | 213 | 247 | Repeat | Note=WD 4 |
| Q9Y2K9 | 704 | 727 | 75 | 1186 | Alternative sequence | ID=VSP_016294;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9Y2K9 | 704 | 727 | 1 | 1186 | Chain | ID=PRO_0000051247;Note=Syntaxin-binding protein 5-like |
| Q9Y2K9 | 704 | 727 | 709 | 709 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q5DQR4 |
| Q9Y2K9 | 704 | 727 | 643 | 705 | Repeat | Note=WD 10 |
| Q9Y2K9 | 750 | 806 | 75 | 1186 | Alternative sequence | ID=VSP_016294;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9Y2K9 | 750 | 806 | 1 | 1186 | Chain | ID=PRO_0000051247;Note=Syntaxin-binding protein 5-like |
| Q9Y2K9 | 750 | 806 | 793 | 793 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q5DQR4 |
| 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 |
| Q9Y2K9 | 223 | 251 | 75 | 1186 | Alternative sequence | ID=VSP_016294;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9Y2K9 | 223 | 251 | 1 | 1186 | Chain | ID=PRO_0000051247;Note=Syntaxin-binding protein 5-like |
| Q9Y2K9 | 223 | 251 | 213 | 247 | Repeat | Note=WD 4 |
| Q9Y2K9 | 704 | 727 | 75 | 1186 | Alternative sequence | ID=VSP_016294;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9Y2K9 | 704 | 727 | 1 | 1186 | Chain | ID=PRO_0000051247;Note=Syntaxin-binding protein 5-like |
| Q9Y2K9 | 704 | 727 | 709 | 709 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q5DQR4 |
| Q9Y2K9 | 704 | 727 | 643 | 705 | Repeat | Note=WD 10 |
| 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 |
| Q9Y2K9 | 223 | 251 | 75 | 1186 | Alternative sequence | ID=VSP_016294;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9Y2K9 | 223 | 251 | 1 | 1186 | Chain | ID=PRO_0000051247;Note=Syntaxin-binding protein 5-like |
| Q9Y2K9 | 223 | 251 | 213 | 247 | Repeat | Note=WD 4 |
| Q9Y2K9 | 704 | 727 | 75 | 1186 | Alternative sequence | ID=VSP_016294;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9Y2K9 | 704 | 727 | 1 | 1186 | Chain | ID=PRO_0000051247;Note=Syntaxin-binding protein 5-like |
| Q9Y2K9 | 704 | 727 | 709 | 709 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q5DQR4 |
| Q9Y2K9 | 704 | 727 | 643 | 705 | Repeat | Note=WD 10 |
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3'-UTR located exon skipping events that lost miRNA binding sites in STXBP5L |
| 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 STXBP5L |
| - 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 STXBP5L |
| 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 STXBP5L |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for STXBP5L |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| FL | RBFOX2 | exon_skip_245348 | -4.268837e-01 | 2.814975e-09 |
| FL | TIA1 | exon_skip_245348 | -4.247712e-01 | 3.431619e-09 |
| FL | NUP42 | exon_skip_245348 | -4.327370e-01 | 1.614396e-09 |
| FL | NOVA1 | exon_skip_245348 | -4.438617e-01 | 5.447822e-10 |
| IFG | ZNF326 | exon_skip_245348 | 4.070329e-01 | 3.158008e-02 |
| IFG | KHSRP | exon_skip_245348 | 4.074706e-01 | 3.137992e-02 |
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RelatedDrugs for STXBP5L |
| 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 STXBP5L |
| 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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