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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 SYT1 |
 Gene summary |
| Gene information | Gene symbol | SYT1 | Gene ID | 6857 |
| Gene name | synaptotagmin 1 | |
| Synonyms | BAGOS|P65|SVP65|SYT | |
| Cytomap | 12q21.2 | |
| Type of gene | protein-coding | |
| Description | synaptotagmin-1synaptotagmin IsytI | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 28193235(Dynamic Presenilin 1 and Synaptotagmin 1 Interaction Modulates Exocytosis and Amyloid β Production) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| SYT1 | GO:1903861 | positive regulation of dendrite extension | 23999003 |
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Gene structures and expression levels for SYT1 |
| 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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ENSG00000067715
| 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 |
| STG | UP | ENST00000552624.5 | SYT1-211:protein_coding:SYT1 | 7.565952e+01 | 1.056833e+00 | 1.354900e-03 | 4.504519e-02 |
| PG | DOWN | ENST00000457153.6 | SYT1-204:protein_coding:SYT1 | 7.964381e+02 | -9.676095e-01 | 1.074952e-03 | 1.541830e-02 |
| CB | DOWN | ENST00000457153.6 | SYT1-204:protein_coding:SYT1 | 3.077486e+03 | -1.337738e+00 | 3.628219e-13 | 6.389146e-11 |
| CB | UP | ENST00000393240.7 | SYT1-202:protein_coding:SYT1 | 6.873590e+00 | 1.356574e+00 | 2.464785e-10 | 1.351206e-08 |
| CB | DOWN | ENST00000550515.1 | ESYT1-206:retained_intron:ESYT1 | 5.337551e+01 | -8.419844e-01 | 1.825833e-06 | 2.502685e-05 |
| CB | UP | ENST00000549454.5 | SYT1-206:lncRNA:SYT1 | 1.429173e+01 | 8.553265e-01 | 2.412863e-05 | 2.218927e-04 |
| 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 SYT1 |
| 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_101266 | chr12 | 78865082:78865109:78977799:78977931:79047297:79047362 | 78977799:78977931 |
| exon_skip_105558 | chr12 | 79047305:79047362:79103014:79103055:79217503:79217517 | 79103014:79103055 |
| exon_skip_130921 | chr12 | 78864998:78865109:78977799:78977931:79217503:79217517 | 78977799:78977931 |
| exon_skip_149600 | chr12 | 78955462:78955566:78977799:78977931:79047297:79047362 | 78977799:78977931 |
| exon_skip_158266 | chr12 | 78868772:78868911:78926597:78926720:78955462:78955510 | 78926597:78926720 |
| exon_skip_161347 | chr12 | 78977799:78977931:79047297:79047362:79217503:79217517 | 79047297:79047362 |
| exon_skip_178666 | chr12 | 78864998:78865109:78977799:78977931:79047297:79047360 | 78977799:78977931 |
| exon_skip_181570 | chr12 | 78977799:78977931:78995759:78995847:79047297:79047360 | 78995759:78995847 |
| exon_skip_191722 | chr12 | 79285787:79285971:79292017:79292130:79296069:79296124 | 79292017:79292130 |
| exon_skip_208525 | chr12 | 79047297:79047362:79217503:79217685:79285787:79285794 | 79217503:79217685 |
| exon_skip_224027 | chr12 | 78926597:78926720:78955462:78955566:78977799:78977931 | 78955462:78955566 |
| exon_skip_22912 | chr12 | 79047298:79047362:79217503:79217685:79285787:79285794 | 79217503:79217685 |
| exon_skip_286947 | chr12 | 79047297:79047362:79103014:79103055:79217503:79217517 | 79103014:79103055 |
| exon_skip_291102 | chr12 | 79047305:79047362:79217503:79217685:79285787:79285794 | 79217503:79217685 |
| exon_skip_33872 | chr12 | 78977799:78977931:78995759:78995847:79047297:79047362 | 78995759:78995847 |
| exon_skip_5400 | chr12 | 78864998:78865109:78977799:78977931:79047297:79047362 | 78977799:78977931 |
| exon_skip_61064 | chr12 | 78865023:78865109:78977799:78977931:79047297:79047362 | 78977799:78977931 |
| exon_skip_870 | chr12 | 79047332:79047362:79103014:79103055:79217503:79217517 | 79103014:79103055 |
| exon_skip_92675 | chr12 | 78977799:78977931:79217503:79217685:79285787:79285794 | 79217503:79217685 |
| exon_skip_98400 | chr12 | 79285787:79285971:79292008:79292130:79296069:79296124 | 79292008:79292130 |
| 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 SYT1 |
| 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 |
| ENST00000261205 | 79217503 | 79217685 | 5CDS-5UTR |
| ENST00000393240 | 79217503 | 79217685 | 5CDS-5UTR |
| ENST00000552744 | 79217503 | 79217685 | 5CDS-5UTR |
| ENST00000261205 | 78977799 | 78977931 | 5UTR-5UTR |
| ENST00000393240 | 78977799 | 78977931 | 5UTR-5UTR |
| ENST00000261205 | 79047297 | 79047362 | 5UTR-5UTR |
| ENST00000393240 | 79047297 | 79047362 | 5UTR-5UTR |
| ENST00000261205 | 79292008 | 79292130 | In-frame |
| ENST00000393240 | 79292008 | 79292130 | In-frame |
| ENST00000552744 | 79292008 | 79292130 | 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 |
| ENST00000261205 | 79217503 | 79217685 | 5CDS-5UTR |
| ENST00000393240 | 79217503 | 79217685 | 5CDS-5UTR |
| ENST00000552744 | 79217503 | 79217685 | 5CDS-5UTR |
| ENST00000261205 | 78977799 | 78977931 | 5UTR-5UTR |
| ENST00000393240 | 78977799 | 78977931 | 5UTR-5UTR |
| ENST00000261205 | 79047297 | 79047362 | 5UTR-5UTR |
| ENST00000393240 | 79047297 | 79047362 | 5UTR-5UTR |
| 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 |
| ENST00000261205 | 79217503 | 79217685 | 5CDS-5UTR |
| ENST00000393240 | 79217503 | 79217685 | 5CDS-5UTR |
| ENST00000552744 | 79217503 | 79217685 | 5CDS-5UTR |
| ENST00000261205 | 78977799 | 78977931 | 5UTR-5UTR |
| ENST00000393240 | 78977799 | 78977931 | 5UTR-5UTR |
| ENST00000261205 | 79047297 | 79047362 | 5UTR-5UTR |
| ENST00000393240 | 79047297 | 79047362 | 5UTR-5UTR |
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Infer the effects of exon skipping event on protein functional features for SYT1 |
p-ENSG00000067715_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 |
| ENST00000261205 | 4825 | 422 | 79292008 | 79292130 | 1010 | 1131 | 117 | 158 |
| ENST00000393240 | 3112 | 422 | 79292008 | 79292130 | 1024 | 1145 | 117 | 158 |
| ENST00000552744 | 2735 | 422 | 79292008 | 79292130 | 632 | 753 | 117 | 158 |
| 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 |
| P21579 | 117 | 158 | 145 | 153 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3F04 |
| P21579 | 117 | 158 | 145 | 153 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3F04 |
| P21579 | 117 | 158 | 145 | 153 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3F04 |
| P21579 | 117 | 158 | 158 | 167 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3F04 |
| P21579 | 117 | 158 | 158 | 167 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3F04 |
| P21579 | 117 | 158 | 158 | 167 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3F04 |
| P21579 | 117 | 158 | 1 | 422 | Chain | ID=PRO_0000183936;Note=Synaptotagmin-1 |
| P21579 | 117 | 158 | 1 | 422 | Chain | ID=PRO_0000183936;Note=Synaptotagmin-1 |
| P21579 | 117 | 158 | 1 | 422 | Chain | ID=PRO_0000183936;Note=Synaptotagmin-1 |
| P21579 | 117 | 158 | 157 | 245 | Domain | Note=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| P21579 | 117 | 158 | 157 | 245 | Domain | Note=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| P21579 | 117 | 158 | 157 | 245 | Domain | Note=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| P21579 | 117 | 158 | 129 | 129 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| P21579 | 117 | 158 | 129 | 129 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| P21579 | 117 | 158 | 129 | 129 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| P21579 | 117 | 158 | 136 | 382 | Region | Note=Phospholipid binding;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P21579 | 117 | 158 | 136 | 382 | Region | Note=Phospholipid binding;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P21579 | 117 | 158 | 136 | 382 | Region | Note=Phospholipid binding;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P21579 | 117 | 158 | 81 | 422 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21579 | 117 | 158 | 81 | 422 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21579 | 117 | 158 | 81 | 422 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P21579 | 117 | 158 | 154 | 157 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3F04 |
| P21579 | 117 | 158 | 154 | 157 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3F04 |
| P21579 | 117 | 158 | 154 | 157 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3F04 |
| 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 SYT1 |
| 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 SYT1 |
| - 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 SYT1 |
| 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 |
| ADstage | MSBB | IFG | exon_skip_33872 | 4.886008e-01 | 8.335117e-03 | chr12 | + | 78977799 | 78977931 | 78995759 | 78995847 | 79047297 | 79047362 |
| ADstage | MSBB | IFG | exon_skip_161347 | -3.872507e-01 | 4.175714e-02 | chr12 | + | 78977799 | 78977931 | 79047297 | 79047362 | 79217503 | 79217517 |
| CDR | MSBB | IFG | exon_skip_33872 | 4.404004e-01 | 1.900438e-02 | chr12 | + | 78977799 | 78977931 | 78995759 | 78995847 | 79047297 | 79047362 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SYT1 |
| 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 SYT1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for SYT1 |
| 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 SYT1 |
| 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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