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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 SNAP25 |
 Gene summary |
| Gene information | Gene symbol | SNAP25 | Gene ID | 6616 |
| Gene name | synaptosome associated protein 25 | |
| Synonyms | CMS18|RIC-4|RIC4|SEC9|SNAP|SNAP-25|SUP|bA416N4.2|dJ1068F16.2 | |
| Cytomap | 20p12.2 | |
| Type of gene | protein-coding | |
| Description | synaptosomal-associated protein 25resistance to inhibitors of cholinesterase 4 homologsynaptosomal-associated protein, 25kDasynaptosome associated protein 25kDa | |
| Modification date | 20200313 | |
| UniProtAcc | A0A0A0MSS0, P60880, | |
| Context | - 30914946(Serum miRNAs Expression and SNAP-25 Genotype 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 |
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Gene structures and expression levels for SNAP25 |
| 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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ENSG00000132639
| 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 | ENST00000426491.5 | SNAP25-AS1-202:lncRNA:SNAP25 | 1.519643e+00 | -9.328674e-01 | 1.351368e-03 | 1.809182e-02 |
| PG | DOWN | ENST00000603542.6 | SNAP25-AS1-207:lncRNA:SNAP25 | 1.376480e+01 | -8.058362e-01 | 1.615803e-03 | 2.055319e-02 |
| CB | UP | ENST00000661614.1 | SNAP25-AS1-216:lncRNA:SNAP25 | 1.943626e+02 | 9.120836e-01 | 5.574207e-14 | 1.454086e-11 |
| CB | UP | ENST00000666905.1 | SNAP25-AS1-220:lncRNA:SNAP25 | 1.016184e+01 | 9.094475e-01 | 1.225120e-02 | 4.101065e-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 SNAP25 |
| 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_129815 | chr20 | 10293161:10293278:10296925:10297050:10299268:10299412 | 10296925:10297050 |
| exon_skip_133011 | chr20 | 10293164:10293278:10296925:10297050:10299268:10299316 | 10296925:10297050 |
| exon_skip_138797 | chr20 | 10284724:10284772:10292882:10292999:10296925:10296938 | 10292882:10292999 |
| exon_skip_139284 | chr20 | 10284724:10284772:10293161:10293278:10296925:10297050 | 10293161:10293278 |
| exon_skip_144346 | chr20 | 10284726:10284772:10293161:10293278:10296925:10297050 | 10293161:10293278 |
| exon_skip_14479 | chr20 | 10284726:10284772:10292882:10292999:10296925:10296975 | 10292882:10292999 |
| exon_skip_196515 | chr20 | 10284724:10284772:10292882:10292999:10296925:10297050 | 10292882:10292999 |
| exon_skip_229512 | chr20 | 10292882:10292999:10296925:10297050:10299268:10299316 | 10296925:10297050 |
| exon_skip_245351 | chr20 | 10296937:10297050:10299268:10299412:10306129:10306168 | 10299268:10299412 |
| exon_skip_250783 | chr20 | 10293161:10293278:10296925:10297050:10299268:10299328 | 10296925:10297050 |
| exon_skip_267674 | chr20 | 10296937:10297050:10299268:10299412:10306129:10307418 | 10299268:10299412 |
| exon_skip_281900 | chr20 | 10284726:10284772:10293161:10293278:10296925:10296975 | 10293161:10293278 |
| exon_skip_283679 | chr20 | 10277685:10277726:10284724:10284772:10292882:10292999 | 10284724:10284772 |
| exon_skip_295388 | chr20 | 10292882:10292999:10296925:10297050:10299268:10299412 | 10296925:10297050 |
| exon_skip_35318 | chr20 | 10284726:10284772:10292882:10292999:10296925:10297050 | 10292882:10292999 |
| exon_skip_57032 | chr20 | 10275519:10275563:10277685:10277726:10284724:10284772 | 10277685:10277726 |
| exon_skip_80862 | chr20 | 10284724:10284772:10293161:10293278:10296925:10296938 | 10293161:10293278 |
| exon_skip_83628 | chr20 | 10293162:10293278:10296925:10297050:10299268:10299412 | 10296925:10297050 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_161845 | Mayo_CB | 2.590123e-01 | 4.315517e-01 | -1.725394e-01 | 6.699198e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for SNAP25 |
| 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 |
| ENST00000254976 | 10293161 | 10293278 | Frame-shift |
| ENST00000254976 | 10277685 | 10277726 | In-frame |
| ENST00000254976 | 10296925 | 10297050 | 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 |
| ENST00000254976 | 10293161 | 10293278 | Frame-shift |
| ENST00000254976 | 10296925 | 10297050 | 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 |
| ENST00000254976 | 10293161 | 10293278 | Frame-shift |
| ENST00000254976 | 10299268 | 10299412 | Frame-shift |
| ENST00000254976 | 10277685 | 10277726 | In-frame |
| ENST00000254976 | 10296925 | 10297050 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SNAP25 |
p-ENSG00000132639_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 |
| ENST00000254976 | 2070 | 206 | 10277685 | 10277726 | 285 | 325 | 24 | 38 |
| ENST00000254976 | 2070 | 206 | 10296925 | 10297050 | 494 | 618 | 94 | 135 |
| 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 |
| ENST00000254976 | 2070 | 206 | 10296925 | 10297050 | 494 | 618 | 94 | 135 |
| 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 |
| ENST00000254976 | 2070 | 206 | 10277685 | 10277726 | 285 | 325 | 24 | 38 |
| ENST00000254976 | 2070 | 206 | 10296925 | 10297050 | 494 | 618 | 94 | 135 |
| 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 |
| P60880 | 24 | 38 | 1 | 206 | Chain | ID=PRO_0000213587;Note=Synaptosomal-associated protein 25 |
| P60880 | 24 | 38 | 19 | 81 | Domain | Note=t-SNARE coiled-coil homology 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00202 |
| P60880 | 24 | 38 | 8 | 80 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RK2 |
| P60880 | 24 | 38 | 1 | 75 | Region | Note=Interaction with CENPF;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P60880 | 94 | 135 | 1 | 206 | Chain | ID=PRO_0000213587;Note=Synaptosomal-associated protein 25 |
| P60880 | 94 | 135 | 112 | 112 | Mutagenesis | Note=Mildly decreased binding affinity for ZDHHC17. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
| P60880 | 94 | 135 | 113 | 113 | Mutagenesis | Note=Mildly decreased binding affinity for ZDHHC17. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
| P60880 | 94 | 135 | 115 | 115 | Mutagenesis | Note=No effect on ZDHHC17 binding. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
| P60880 | 94 | 135 | 116 | 116 | Mutagenesis | Note=Decreased binding affinity for ZDHHC17. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
| P60880 | 94 | 135 | 117 | 117 | Mutagenesis | Note=Decreased binding affinity for ZDHHC17. P->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
| P60880 | 94 | 135 | 119 | 119 | Mutagenesis | Note=No effect on ZDHHC17 binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
| P60880 | 94 | 135 | 111 | 120 | Region | Note=Interaction with ZDHHC17;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
| 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 |
| P60880 | 94 | 135 | 1 | 206 | Chain | ID=PRO_0000213587;Note=Synaptosomal-associated protein 25 |
| P60880 | 94 | 135 | 112 | 112 | Mutagenesis | Note=Mildly decreased binding affinity for ZDHHC17. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
| P60880 | 94 | 135 | 113 | 113 | Mutagenesis | Note=Mildly decreased binding affinity for ZDHHC17. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
| P60880 | 94 | 135 | 115 | 115 | Mutagenesis | Note=No effect on ZDHHC17 binding. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
| P60880 | 94 | 135 | 116 | 116 | Mutagenesis | Note=Decreased binding affinity for ZDHHC17. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
| P60880 | 94 | 135 | 117 | 117 | Mutagenesis | Note=Decreased binding affinity for ZDHHC17. P->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
| P60880 | 94 | 135 | 119 | 119 | Mutagenesis | Note=No effect on ZDHHC17 binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
| P60880 | 94 | 135 | 111 | 120 | Region | Note=Interaction with ZDHHC17;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
| 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 |
| P60880 | 24 | 38 | 1 | 206 | Chain | ID=PRO_0000213587;Note=Synaptosomal-associated protein 25 |
| P60880 | 24 | 38 | 19 | 81 | Domain | Note=t-SNARE coiled-coil homology 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00202 |
| P60880 | 24 | 38 | 8 | 80 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3RK2 |
| P60880 | 24 | 38 | 1 | 75 | Region | Note=Interaction with CENPF;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P60880 | 94 | 135 | 1 | 206 | Chain | ID=PRO_0000213587;Note=Synaptosomal-associated protein 25 |
| P60880 | 94 | 135 | 112 | 112 | Mutagenesis | Note=Mildly decreased binding affinity for ZDHHC17. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
| P60880 | 94 | 135 | 113 | 113 | Mutagenesis | Note=Mildly decreased binding affinity for ZDHHC17. V->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
| P60880 | 94 | 135 | 115 | 115 | Mutagenesis | Note=No effect on ZDHHC17 binding. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
| P60880 | 94 | 135 | 116 | 116 | Mutagenesis | Note=Decreased binding affinity for ZDHHC17. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
| P60880 | 94 | 135 | 117 | 117 | Mutagenesis | Note=Decreased binding affinity for ZDHHC17. P->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
| P60880 | 94 | 135 | 119 | 119 | Mutagenesis | Note=No effect on ZDHHC17 binding. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
| P60880 | 94 | 135 | 111 | 120 | Region | Note=Interaction with ZDHHC17;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28757145;Dbxref=PMID:28757145 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SNAP25 |
| 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 SNAP25 |
| - 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 SNAP25 |
| 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 SNAP25 |
| 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 SNAP25 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM3 | exon_skip_161845 | 4.716090e-01 | 4.625048e-09 |
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RelatedDrugs for SNAP25 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P60880 | approved|investigational | DB00083 | Botulinum toxin type A | biotech | P60880 |
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RelatedDiseases for SNAP25 |
| 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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