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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 BSN |
 Gene summary |
| Gene information | Gene symbol | BSN | Gene ID | 8927 |
| Gene name | bassoon presynaptic cytomatrix protein | |
| Synonyms | ZNF231 | |
| Cytomap | 3p21.31 | |
| Type of gene | protein-coding | |
| Description | protein bassoonneuronal double zinc finger proteinzinc finger protein 231 | |
| Modification date | 20200313 | |
| UniProtAcc | A0A024R2Y4, Q9UPA5, | |
| Context | - 29339765(Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome) |
| 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 BSN |
| 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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ENSG00000164061
| 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 |
| CB | UP | ENST00000507357.1 | RBSN-209:protein_coding:RBSN | 1.654215e+00 | 1.033839e+00 | 9.181978e-05 | 6.892567e-04 |
| CB | DOWN | ENST00000421598.1 | BSN-DT-201:lncRNA:BSN | 1.571480e+01 | -8.578473e-01 | 1.782812e-04 | 1.207986e-03 |
| CB | UP | ENST00000449964.6 | RBSN-205:lncRNA:RBSN | 2.286933e+01 | 1.073582e+00 | 4.688568e-04 | 2.728461e-03 |
| 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 BSN |
| 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_186426 | chr3 | 49662876:49663666:49663787:49663886:49664423:49664554 | 49663787:49663886 |
| exon_skip_19985 | chr3 | 49643029:49643152:49650612:49651079:49651543:49657661 | 49650612:49651079 |
| exon_skip_227024 | chr3 | 49660486:49662562:49662876:49663666:49663787:49663886 | 49662876:49663666 |
| exon_skip_288829 | chr3 | 49664799:49664853:49665229:49665318:49667590:49671549 | 49665229:49665318 |
| exon_skip_32132 | chr3 | 49643029:49643152:49650612:49651079:49651543:49651734 | 49650612:49651079 |
| exon_skip_41858 | chr3 | 49643029:49643152:49650612:49651079:49651543:49653273 | 49650612:49651079 |
| 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 BSN |
| 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 |
| ENST00000296452 | 49665229 | 49665318 | 3UTR-3UTR |
| ENST00000296452 | 49662876 | 49663666 | Frame-shift |
| ENST00000296452 | 49663787 | 49663886 | Frame-shift |
| ENST00000296452 | 49650612 | 49651079 | 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 |
| 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 |
| ENST00000296452 | 49665229 | 49665318 | 3UTR-3UTR |
| ENST00000296452 | 49662876 | 49663666 | Frame-shift |
| ENST00000296452 | 49663787 | 49663886 | Frame-shift |
| ENST00000296452 | 49650612 | 49651079 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BSN |
p-ENSG00000164061_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 |
| ENST00000296452 | 15972 | 3926 | 49650612 | 49651079 | 1634 | 2100 | 506 | 662 |
| 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 |
| ENST00000296452 | 15972 | 3926 | 49650612 | 49651079 | 1634 | 2100 | 506 | 662 |
| 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 |
| Q9UPA5 | 506 | 662 | 2 | 3926 | Chain | ID=PRO_0000065002;Note=Protein bassoon |
| Q9UPA5 | 506 | 662 | 571 | 591 | Region | Note=3 X 7 AA tandem repeats of K-A-S-P-[LQ]-[APS]-[KST] |
| Q9UPA5 | 506 | 662 | 571 | 577 | Repeat | Note=1 |
| Q9UPA5 | 506 | 662 | 578 | 584 | Repeat | Note=2 |
| Q9UPA5 | 506 | 662 | 585 | 591 | Repeat | Note=3 |
| Q9UPA5 | 506 | 662 | 493 | 515 | Zinc finger | Note=C4-type;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 |
| 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 |
| Q9UPA5 | 506 | 662 | 2 | 3926 | Chain | ID=PRO_0000065002;Note=Protein bassoon |
| Q9UPA5 | 506 | 662 | 571 | 591 | Region | Note=3 X 7 AA tandem repeats of K-A-S-P-[LQ]-[APS]-[KST] |
| Q9UPA5 | 506 | 662 | 571 | 577 | Repeat | Note=1 |
| Q9UPA5 | 506 | 662 | 578 | 584 | Repeat | Note=2 |
| Q9UPA5 | 506 | 662 | 585 | 591 | Repeat | Note=3 |
| Q9UPA5 | 506 | 662 | 493 | 515 | Zinc finger | Note=C4-type;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in BSN |
| 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 |
| Mayo | ENST00000296452 | 49665229 | 49665318 | hsa-miR-345-5p | chr3:49665277-49665284 | 8mer-1a | chr3:49665273-49665291 | 156.00 | -24.08 |
| Mayo | ENST00000296452 | 49665229 | 49665318 | hsa-miR-6800-3p | chr3:49665246-49665253 | 8mer-1a | chr3:49665230-49665255 | 151.00 | -15.69 |
| Mayo | ENST00000296452 | 49665229 | 49665318 | hsa-miR-3692-3p | chr3:49665261-49665268 | 8mer-1a | chr3:49665259-49665281 | 153.00 | -22.76 |
| ROSMAP | ENST00000296452 | 49665229 | 49665318 | hsa-miR-345-5p | chr3:49665277-49665284 | 8mer-1a | chr3:49665273-49665291 | 156.00 | -24.08 |
| ROSMAP | ENST00000296452 | 49665229 | 49665318 | hsa-miR-6800-3p | chr3:49665246-49665253 | 8mer-1a | chr3:49665230-49665255 | 151.00 | -15.69 |
| ROSMAP | ENST00000296452 | 49665229 | 49665318 | hsa-miR-3692-3p | chr3:49665261-49665268 | 8mer-1a | chr3:49665259-49665281 | 153.00 | -22.76 |
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SNVs in the skipped exons for BSN |
| - 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 BSN |
| 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 BSN |
| 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 BSN |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for BSN |
| 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 BSN |
| 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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