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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 SV2B |
 Gene summary |
| Gene information | Gene symbol | SV2B | Gene ID | 9899 |
| Gene name | synaptic vesicle glycoprotein 2B | |
| Synonyms | HsT19680 | |
| Cytomap | 15q26.1 | |
| Type of gene | protein-coding | |
| Description | synaptic vesicle glycoprotein 2Bsynaptic vesicle protein 2B homolog | |
| Modification date | 20200313 | |
| UniProtAcc | Q7L1I2, | |
| Context | - 32280101(Synaptic Vesicle Protein 2B Negatively Regulates the Amyloidogenic Processing of AbetaPP as a Novel Interaction Partner of BACE1) |
| 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 SV2B |
| 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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ENSG00000185518
| 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 | ENST00000557410.5 | SV2B-206:nonsense_mediated_decay:SV2B | 1.102242e+03 | -8.491794e-01 | 6.811593e-06 | 3.775601e-04 |
| PG | DOWN | ENST00000545111.6 | SV2B-203:protein_coding:SV2B | 1.486665e+02 | -8.819100e-01 | 4.156475e-05 | 1.429764e-03 |
| CB | UP | ENST00000545111.6 | SV2B-203:protein_coding:SV2B | 7.050405e+01 | 1.110437e+00 | 4.606771e-06 | 5.465457e-05 |
| 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 SV2B |
| 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_142941 | chr15 | 91100329:91100363:91225873:91226714:91251819:91251926 | 91225873:91226714 |
| exon_skip_147299 | chr15 | 91281728:91281861:91284021:91284221:91289521:91289680 | 91284021:91284221 |
| exon_skip_239921 | chr15 | 91100315:91100363:91128723:91128810:91225873:91226067 | 91128723:91128810 |
| exon_skip_249313 | chr15 | 91252369:91252520:91258421:91258554:91260320:91260409 | 91258421:91258554 |
| exon_skip_2861 | chr15 | 91100315:91100363:91225873:91226714:91251819:91251876 | 91225873:91226714 |
| exon_skip_288509 | chr15 | 91100315:91100363:91128723:91128810:91225873:91226714 | 91128723:91128810 |
| exon_skip_290572 | chr15 | 91267555:91267643:91268441:91268605:91281728:91281861 | 91268441:91268605 |
| exon_skip_36178 | chr15 | 91100315:91100363:91225873:91226714:91251819:91251926 | 91225873:91226714 |
| exon_skip_82364 | chr15 | 91284021:91284221:91289521:91289680:91292369:91292636 | 91289521:91289680 |
| exon_skip_83801 | chr15 | 91128723:91128810:91225873:91226714:91251819:91251926 | 91225873:91226714 |
| exon_skip_96045 | chr15 | 91268441:91268605:91281728:91281861:91284021:91284221 | 91281728:91281861 |
| 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 SV2B |
| 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 |
| ENST00000394232 | 91225873 | 91226714 | 5CDS-5UTR |
| ENST00000330276 | 91258421 | 91258554 | Frame-shift |
| ENST00000394232 | 91258421 | 91258554 | Frame-shift |
| ENST00000330276 | 91281728 | 91281861 | Frame-shift |
| ENST00000394232 | 91281728 | 91281861 | Frame-shift |
| ENST00000330276 | 91289521 | 91289680 | Frame-shift |
| ENST00000394232 | 91289521 | 91289680 | Frame-shift |
| ENST00000330276 | 91284021 | 91284221 | In-frame |
| ENST00000394232 | 91284021 | 91284221 | 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 |
| ENST00000394232 | 91225873 | 91226714 | 5CDS-5UTR |
| ENST00000330276 | 91258421 | 91258554 | Frame-shift |
| ENST00000394232 | 91258421 | 91258554 | Frame-shift |
| ENST00000330276 | 91289521 | 91289680 | Frame-shift |
| ENST00000394232 | 91289521 | 91289680 | Frame-shift |
| ENST00000330276 | 91284021 | 91284221 | In-frame |
| ENST00000394232 | 91284021 | 91284221 | 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 |
| ENST00000394232 | 91225873 | 91226714 | 5CDS-5UTR |
| ENST00000330276 | 91258421 | 91258554 | Frame-shift |
| ENST00000394232 | 91258421 | 91258554 | Frame-shift |
| ENST00000330276 | 91289521 | 91289680 | Frame-shift |
| ENST00000394232 | 91289521 | 91289680 | Frame-shift |
| ENST00000330276 | 91268441 | 91268605 | In-frame |
| ENST00000394232 | 91268441 | 91268605 | In-frame |
| ENST00000330276 | 91284021 | 91284221 | In-frame |
| ENST00000394232 | 91284021 | 91284221 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SV2B |
p-ENSG00000185518_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 |
| ENST00000330276 | 11219 | 683 | 91284021 | 91284221 | 1903 | 2102 | 503 | 569 |
| ENST00000394232 | 11296 | 683 | 91284021 | 91284221 | 1979 | 2178 | 503 | 569 |
| 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 |
| ENST00000330276 | 11219 | 683 | 91284021 | 91284221 | 1903 | 2102 | 503 | 569 |
| ENST00000394232 | 11296 | 683 | 91284021 | 91284221 | 1979 | 2178 | 503 | 569 |
| 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 |
| ENST00000330276 | 11219 | 683 | 91268441 | 91268605 | 1604 | 1767 | 403 | 457 |
| ENST00000394232 | 11296 | 683 | 91268441 | 91268605 | 1680 | 1843 | 403 | 457 |
| ENST00000330276 | 11219 | 683 | 91284021 | 91284221 | 1903 | 2102 | 503 | 569 |
| ENST00000394232 | 11296 | 683 | 91284021 | 91284221 | 1979 | 2178 | 503 | 569 |
| 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 |
| Q7L1I2 | 503 | 569 | 1 | 683 | Chain | ID=PRO_0000239768;Note=Synaptic vesicle glycoprotein 2B |
| Q7L1I2 | 503 | 569 | 1 | 683 | Chain | ID=PRO_0000239768;Note=Synaptic vesicle glycoprotein 2B |
| Q7L1I2 | 503 | 569 | 516 | 516 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 516 | 516 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 412 | 535 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 412 | 535 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 557 | 565 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 557 | 565 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 536 | 556 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 536 | 556 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 566 | 586 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 566 | 586 | 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 |
| Q7L1I2 | 503 | 569 | 1 | 683 | Chain | ID=PRO_0000239768;Note=Synaptic vesicle glycoprotein 2B |
| Q7L1I2 | 503 | 569 | 1 | 683 | Chain | ID=PRO_0000239768;Note=Synaptic vesicle glycoprotein 2B |
| Q7L1I2 | 503 | 569 | 516 | 516 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 516 | 516 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 412 | 535 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 412 | 535 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 557 | 565 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 557 | 565 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 536 | 556 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 536 | 556 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 566 | 586 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 566 | 586 | 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 |
| Q7L1I2 | 403 | 457 | 1 | 683 | Chain | ID=PRO_0000239768;Note=Synaptic vesicle glycoprotein 2B |
| Q7L1I2 | 403 | 457 | 1 | 683 | Chain | ID=PRO_0000239768;Note=Synaptic vesicle glycoprotein 2B |
| Q7L1I2 | 403 | 457 | 441 | 441 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 403 | 457 | 441 | 441 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 403 | 457 | 423 | 423 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8BG39 |
| Q7L1I2 | 403 | 457 | 423 | 423 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q8BG39 |
| Q7L1I2 | 403 | 457 | 412 | 535 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 403 | 457 | 412 | 535 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 403 | 457 | 391 | 411 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 403 | 457 | 391 | 411 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 1 | 683 | Chain | ID=PRO_0000239768;Note=Synaptic vesicle glycoprotein 2B |
| Q7L1I2 | 503 | 569 | 1 | 683 | Chain | ID=PRO_0000239768;Note=Synaptic vesicle glycoprotein 2B |
| Q7L1I2 | 503 | 569 | 516 | 516 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 516 | 516 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 412 | 535 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 412 | 535 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 557 | 565 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 557 | 565 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 536 | 556 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 536 | 556 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 566 | 586 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q7L1I2 | 503 | 569 | 566 | 586 | 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 SV2B |
| 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 SV2B |
| - 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 SV2B |
| 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 SV2B |
| 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 SV2B |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for SV2B |
| 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 SV2B |
| 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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