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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 STX1A |
 Gene summary |
| Gene information | Gene symbol | STX1A | Gene ID | 6804 |
| Gene name | syntaxin 1A | |
| Synonyms | HPC-1|P35-1|STX1|SYN1A | |
| Cytomap | 7q11.23 | |
| Type of gene | protein-coding | |
| Description | syntaxin-1Aneuron-specific antigen HPC-1syntaxin 1A (brain) | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 30958380(SNARE Complex Polymorphisms Associate with Alterations of Visual Selective Attention in Alzheimer's Disease) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| STX1A | GO:0016079 | synaptic vesicle exocytosis | 26635000 |
| STX1A | GO:0016925 | protein sumoylation | 26635000 |
| STX1A | GO:0032940 | secretion by cell | 12130530 |
| STX1A | GO:0048488 | synaptic vesicle endocytosis | 26635000 |
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Gene structures and expression levels for STX1A |
| 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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ENSG00000106089
| 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 | ENST00000462135.1 | STX1A-206:retained_intron:STX1A | 5.698995e+00 | -9.063086e-01 | 9.995686e-04 | 1.458432e-02 |
| CB | DOWN | ENST00000395156.7 | STX1A-204:protein_coding:STX1A | 1.287148e+02 | -1.006354e+00 | 3.236913e-05 | 2.843047e-04 |
| TC | DOWN | ENST00000395156.7 | STX1A-204:protein_coding:STX1A | 2.012397e+02 | -1.258259e+00 | 2.649129e-08 | 2.033502e-06 |
| 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 STX1A |
| 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_100464 | chr7 | 73700442:73700484:73700730:73700794:73702845:73702982 | 73700730:73700794 |
| exon_skip_108895 | chr7 | 73700378:73700484:73700730:73700794:73702845:73702982 | 73700730:73700794 |
| exon_skip_231129 | chr7 | 73700316:73700484:73700730:73700794:73702845:73702982 | 73700730:73700794 |
| exon_skip_236582 | chr7 | 73703763:73703828:73704148:73704256:73704350:73704423 | 73704148:73704256 |
| exon_skip_241439 | chr7 | 73708589:73708688:73709045:73709122:73719602:73719626 | 73709045:73709122 |
| exon_skip_244054 | chr7 | 73700316:73700484:73700730:73700931:73702845:73702982 | 73700730:73700931 |
| exon_skip_246424 | chr7 | 73700442:73700484:73700730:73700840:73702845:73702982 | 73700730:73700840 |
| exon_skip_25350 | chr7 | 73700442:73700484:73700730:73700931:73702845:73702982 | 73700730:73700931 |
| exon_skip_2674 | chr7 | 73709049:73709122:73716581:73716734:73719602:73719626 | 73716581:73716734 |
| exon_skip_281587 | chr7 | 73700316:73700484:73700730:73700840:73702845:73702982 | 73700730:73700840 |
| exon_skip_78608 | chr7 | 73709045:73709122:73716581:73716734:73719602:73719626 | 73716581:73716734 |
| exon_skip_78983 | chr7 | 73700378:73700484:73700730:73700840:73702845:73702982 | 73700730:73700840 |
| exon_skip_81157 | chr7 | 73700378:73700484:73700730:73700931:73702845:73702982 | 73700730:73700931 |
| 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 STX1A |
| 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 |
| ENST00000222812 | 73704148 | 73704256 | Frame-shift |
| ENST00000222812 | 73700730 | 73700840 | In-frame |
| ENST00000222812 | 73709045 | 73709122 | 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 |
| ENST00000222812 | 73709045 | 73709122 | 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 |
| ENST00000222812 | 73700730 | 73700840 | In-frame |
| ENST00000222812 | 73709045 | 73709122 | In-frame |
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Infer the effects of exon skipping event on protein functional features for STX1A |
p-ENSG00000106089_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 |
| ENST00000222812 | 2112 | 288 | 73709045 | 73709122 | 58 | 134 | 10 | 35 |
| ENST00000222812 | 2112 | 288 | 73700730 | 73700840 | 706 | 815 | 226 | 262 |
| 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 |
| ENST00000222812 | 2112 | 288 | 73709045 | 73709122 | 58 | 134 | 10 | 35 |
| 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 |
| ENST00000222812 | 2112 | 288 | 73709045 | 73709122 | 58 | 134 | 10 | 35 |
| ENST00000222812 | 2112 | 288 | 73700730 | 73700840 | 706 | 815 | 226 | 262 |
| 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 |
| Q16623 | 10 | 35 | 1 | 288 | Chain | ID=PRO_0000210186;Note=Syntaxin-1A |
| Q16623 | 10 | 35 | 14 | 14 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15822905;Dbxref=PMID:15822905 |
| Q16623 | 10 | 35 | 1 | 265 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q16623 | 226 | 262 | 227 | 288 | Alternative sequence | ID=VSP_006338;Note=In isoform 2. GEMIDRIEYNVEHAVDYVERAVSDTKKAVKYQSKARRKKIMIIICCVILGIVIASTVGGIFA->PQGAFLKSCPEPQPNREEGALWSSGAPGPAGRDD;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12586365,ECO:0000303|PubMed:9003414;Dbxref=PMID:12586365, |
| Q16623 | 226 | 262 | 227 | 288 | Alternative sequence | ID=VSP_006339;Note=In isoform 3. GEMIDRIEYNVEHAVDYVERAVSDTKKAVKYQSKARRKKIMIIICCVILGIVIASTVGGIFA->TMWRGPCLTPRRPSSTRARRAGRKS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q16623 | 226 | 262 | 1 | 288 | Chain | ID=PRO_0000210186;Note=Syntaxin-1A |
| Q16623 | 226 | 262 | 192 | 254 | Domain | Note=t-SNARE coiled-coil homology;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00202 |
| Q16623 | 226 | 262 | 1 | 265 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q16623 | 10 | 35 | 1 | 288 | Chain | ID=PRO_0000210186;Note=Syntaxin-1A |
| Q16623 | 10 | 35 | 14 | 14 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15822905;Dbxref=PMID:15822905 |
| Q16623 | 10 | 35 | 1 | 265 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q16623 | 10 | 35 | 1 | 288 | Chain | ID=PRO_0000210186;Note=Syntaxin-1A |
| Q16623 | 10 | 35 | 14 | 14 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:15822905;Dbxref=PMID:15822905 |
| Q16623 | 10 | 35 | 1 | 265 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q16623 | 226 | 262 | 227 | 288 | Alternative sequence | ID=VSP_006338;Note=In isoform 2. GEMIDRIEYNVEHAVDYVERAVSDTKKAVKYQSKARRKKIMIIICCVILGIVIASTVGGIFA->PQGAFLKSCPEPQPNREEGALWSSGAPGPAGRDD;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12586365,ECO:0000303|PubMed:9003414;Dbxref=PMID:12586365, |
| Q16623 | 226 | 262 | 227 | 288 | Alternative sequence | ID=VSP_006339;Note=In isoform 3. GEMIDRIEYNVEHAVDYVERAVSDTKKAVKYQSKARRKKIMIIICCVILGIVIASTVGGIFA->TMWRGPCLTPRRPSSTRARRAGRKS;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q16623 | 226 | 262 | 1 | 288 | Chain | ID=PRO_0000210186;Note=Syntaxin-1A |
| Q16623 | 226 | 262 | 192 | 254 | Domain | Note=t-SNARE coiled-coil homology;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00202 |
| Q16623 | 226 | 262 | 1 | 265 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in STX1A |
| 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 STX1A |
| - 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 STX1A |
| 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 STX1A |
| 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 STX1A |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for STX1A |
| 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 STX1A |
| 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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