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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 SVOP |
 Gene summary |
| Gene information | Gene symbol | SVOP | Gene ID | 55530 |
| Gene name | SV2 related protein | |
| Synonyms | - | |
| Cytomap | 12q24.11 | |
| Type of gene | protein-coding | |
| Description | synaptic vesicle 2-related proteinSV2 related protein homolog | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 24804578(Chromosome-centric Human Proteome Project: Deciphering Proteins Associated With Glioma and Neurodegenerative Disorders on Chromosome 12) |
| 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 SVOP |
| 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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ENSG00000166111
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| PG | DOWN | 9.262084e+02 | -9.977582e-01 | 2.103753e-10 | 2.730113e-08 |
| 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 |
| PCC | DOWN | ENST00000550436.4 | SVOP-203:nonsense_mediated_decay:SVOP | 9.284706e+00 | -9.209131e-01 | 2.476573e-04 | 1.053039e-02 |
| PG | DOWN | ENST00000550436.4 | SVOP-203:nonsense_mediated_decay:SVOP | 2.993080e+01 | -1.423105e+00 | 9.805574e-04 | 1.439061e-02 |
| PG | DOWN | ENST00000548229.2 | SVOP-202:retained_intron:SVOP | 4.302043e+00 | -1.073968e+00 | 9.900546e-04 | 1.449553e-02 |
| CB | UP | ENST00000550436.4 | SVOP-203:nonsense_mediated_decay:SVOP | 1.099870e+01 | 1.137928e+00 | 4.932319e-05 | 4.066332e-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 SVOP |
| 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_122903 | chr12 | 108945103:108945166:108960923:108961047:108972405:108972476 | 108960923:108961047 |
| exon_skip_170790 | chr12 | 108960935:108961047:108972405:108972476:108977398:108977496 | 108972405:108972476 |
| exon_skip_223628 | chr12 | 108960935:108961047:108972405:108972476:108983601:108983761 | 108972405:108972476 |
| exon_skip_229750 | chr12 | 108907741:108912741:108915783:108915872:108918043:108918124 | 108915783:108915872 |
| exon_skip_233219 | chr12 | 108972405:108972476:108978578:108978663:108983601:108983761 | 108978578:108978663 |
| exon_skip_244110 | chr12 | 108972405:108972476:108977398:108977496:108978578:108978663 | 108977398:108977496 |
| exon_skip_5632 | chr12 | 108915783:108915872:108918043:108918124:108919675:108919786 | 108918043:108918124 |
| exon_skip_77365 | chr12 | 108934195:108934271:108937264:108937337:108938827:108938888 | 108937264:108937337 |
| exon_skip_84622 | chr12 | 108938827:108938955:108940784:108940909:108945103:108945166 | 108940784:108940909 |
| 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_5632 | Mayo_CB | 7.493902e-01 | 8.688000e-01 | -1.194098e-01 | 2.074090e-08 |
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Open reading frame (ORF) annotation in the exon skipping event for SVOP |
| 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 |
| ENST00000610966 | 108918043 | 108918124 | Frame-shift |
| ENST00000610966 | 108960923 | 108961047 | Frame-shift |
| ENST00000610966 | 108915783 | 108915872 | In-frame |
| ENST00000610966 | 108972405 | 108972476 | In-frame |
| ENST00000610966 | 108977398 | 108977496 | 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 |
| ENST00000610966 | 108918043 | 108918124 | Frame-shift |
| ENST00000610966 | 108960923 | 108961047 | Frame-shift |
| ENST00000610966 | 108972405 | 108972476 | In-frame |
| ENST00000610966 | 108977398 | 108977496 | 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 |
| ENST00000610966 | 108918043 | 108918124 | Frame-shift |
| ENST00000610966 | 108937264 | 108937337 | Frame-shift |
| ENST00000610966 | 108960923 | 108961047 | Frame-shift |
| ENST00000610966 | 108915783 | 108915872 | In-frame |
| ENST00000610966 | 108940784 | 108940909 | In-frame |
| ENST00000610966 | 108972405 | 108972476 | In-frame |
| ENST00000610966 | 108977398 | 108977496 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SVOP |
p-ENSG00000166111_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 |
| ENST00000610966 | 6830 | 548 | 108977398 | 108977496 | 655 | 752 | 94 | 126 |
| ENST00000610966 | 6830 | 548 | 108972405 | 108972476 | 754 | 824 | 127 | 150 |
| ENST00000610966 | 6830 | 548 | 108915783 | 108915872 | 1723 | 1811 | 450 | 479 |
| 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 |
| ENST00000610966 | 6830 | 548 | 108977398 | 108977496 | 655 | 752 | 94 | 126 |
| ENST00000610966 | 6830 | 548 | 108972405 | 108972476 | 754 | 824 | 127 | 150 |
| 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 |
| ENST00000610966 | 6830 | 548 | 108977398 | 108977496 | 655 | 752 | 94 | 126 |
| ENST00000610966 | 6830 | 548 | 108972405 | 108972476 | 754 | 824 | 127 | 150 |
| ENST00000610966 | 6830 | 548 | 108940784 | 108940909 | 1015 | 1139 | 214 | 255 |
| ENST00000610966 | 6830 | 548 | 108915783 | 108915872 | 1723 | 1811 | 450 | 479 |
| 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 |
| Q8N4V2 | 94 | 126 | 1 | 548 | Chain | ID=PRO_0000279452;Note=Synaptic vesicle 2-related protein |
| Q8N4V2 | 94 | 126 | 109 | 122 | Topological domain | Note=Vesicular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 94 | 126 | 88 | 108 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 94 | 126 | 123 | 143 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 127 | 150 | 1 | 548 | Chain | ID=PRO_0000279452;Note=Synaptic vesicle 2-related protein |
| Q8N4V2 | 127 | 150 | 144 | 156 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 127 | 150 | 123 | 143 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 450 | 479 | 1 | 548 | Chain | ID=PRO_0000279452;Note=Synaptic vesicle 2-related protein |
| Q8N4V2 | 450 | 479 | 446 | 457 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 450 | 479 | 479 | 489 | Topological domain | Note=Vesicular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 450 | 479 | 458 | 478 | Transmembrane | Note=Helical;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 |
| Q8N4V2 | 94 | 126 | 1 | 548 | Chain | ID=PRO_0000279452;Note=Synaptic vesicle 2-related protein |
| Q8N4V2 | 94 | 126 | 109 | 122 | Topological domain | Note=Vesicular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 94 | 126 | 88 | 108 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 94 | 126 | 123 | 143 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 127 | 150 | 1 | 548 | Chain | ID=PRO_0000279452;Note=Synaptic vesicle 2-related protein |
| Q8N4V2 | 127 | 150 | 144 | 156 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 127 | 150 | 123 | 143 | Transmembrane | Note=Helical;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 |
| Q8N4V2 | 94 | 126 | 1 | 548 | Chain | ID=PRO_0000279452;Note=Synaptic vesicle 2-related protein |
| Q8N4V2 | 94 | 126 | 109 | 122 | Topological domain | Note=Vesicular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 94 | 126 | 88 | 108 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 94 | 126 | 123 | 143 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 127 | 150 | 1 | 548 | Chain | ID=PRO_0000279452;Note=Synaptic vesicle 2-related protein |
| Q8N4V2 | 127 | 150 | 144 | 156 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 127 | 150 | 123 | 143 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 214 | 255 | 1 | 548 | Chain | ID=PRO_0000279452;Note=Synaptic vesicle 2-related protein |
| Q8N4V2 | 214 | 255 | 231 | 238 | Topological domain | Note=Vesicular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 214 | 255 | 210 | 230 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 214 | 255 | 239 | 259 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 450 | 479 | 1 | 548 | Chain | ID=PRO_0000279452;Note=Synaptic vesicle 2-related protein |
| Q8N4V2 | 450 | 479 | 446 | 457 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 450 | 479 | 479 | 489 | Topological domain | Note=Vesicular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8N4V2 | 450 | 479 | 458 | 478 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SVOP |
| 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 SVOP |
| - 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 SVOP |
| 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 SVOP |
| 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 SVOP |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | CNOT4 | exon_skip_5632 | -4.601656e-01 | 1.332788e-09 |
| CB | FUBP1 | exon_skip_5632 | -4.309793e-01 | 1.754852e-08 |
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RelatedDrugs for SVOP |
| 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 SVOP |
| 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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