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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for NSF |
Gene summary |
Gene information | Gene symbol | NSF | Gene ID | 4905 |
Gene name | N-ethylmaleimide sensitive factor, vesicle fusing ATPase | |
Synonyms | SEC18|SKD2 | |
Cytomap | 17q21.31 | |
Type of gene | protein-coding | |
Description | vesicle-fusing ATPaseN-ethylmaleimide-sensitive factor-like proteinN-ethylmaleimide-sensitive fusion proteinNEM-sensitive fusion proteinepididymis secretory sperm binding proteinvesicular-fusion protein NSF | |
Modification date | 20200313 | |
UniProtAcc | D3DXJ4, | |
Context | - 18524483(Gene Expression Patterns of Hippocampus and Cerebral Cortex of Senescence-Accelerated Mouse Treated With Huang-Lian-Jie-Du Decoction) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
NSF | GO:0001921 | positive regulation of receptor recycling | 15613468 |
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Gene structures and expression levels for NSF |
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. |
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. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
PG | DOWN | ENST00000398238.8 | NSF-201:protein_coding:NSF | 1.284306e+02 | -1.015870e+00 | 7.078197e-05 | 2.129082e-03 |
PG | DOWN | ENST00000576346.5 | NSF-208:protein_coding:NSF | 1.429920e+00 | -1.040341e+00 | 4.385405e-03 | 4.168359e-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 NSF |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_129443 | chr17 | 46643104:46643259:46674414:46674613:46692903:46693068 | 46674414:46674613 |
exon_skip_145675 | chr17 | 46755314:46755369:46755499:46755597:46755802:46755832 | 46755499:46755597 |
exon_skip_146900 | chr17 | 46624244:46624329:46626613:46626712:46637376:46637542 | 46626613:46626712 |
exon_skip_187930 | chr17 | 46692903:46693068:46693847:46693921:46694475:46694662 | 46693847:46693921 |
exon_skip_207680 | chr17 | 46755314:46755369:46755499:46755597:46755802:46755826 | 46755499:46755597 |
exon_skip_209063 | chr17 | 46637376:46637542:46640054:46640161:46640643:46640696 | 46640054:46640161 |
exon_skip_24124 | chr17 | 46626613:46626712:46630411:46630450:46637376:46637472 | 46630411:46630450 |
exon_skip_255005 | chr17 | 46626613:46626712:46630411:46630450:46637376:46637542 | 46630411:46630450 |
exon_skip_256554 | chr17 | 46624244:46624329:46626613:46626712:46630411:46630450 | 46626613:46626712 |
exon_skip_26122 | chr17 | 46630411:46630450:46637376:46637542:46640054:46640147 | 46637376:46637542 |
exon_skip_285501 | chr17 | 46626613:46626712:46637376:46637542:46640054:46640147 | 46637376:46637542 |
exon_skip_293420 | chr17 | 46755314:46755369:46755499:46755597:46755802:46755837 | 46755499:46755597 |
exon_skip_53473 | chr17 | 46728855:46728934:46749773:46749907:46751503:46751583 | 46749773:46749907 |
exon_skip_79217 | chr17 | 46626613:46626712:46630411:46630450:46637376:46637473 | 46630411:46630450 |
exon_skip_80433 | chr17 | 46626646:46626712:46630411:46630450:46637376:46637542 | 46630411:46630450 |
exon_skip_90724 | chr17 | 46590760:46590787:46624244:46624329:46626613:46626663 | 46624244:46624329 |
exon_skip_95922 | chr17 | 46693847:46693921:46694475:46694662:46704759:46704854 | 46694475:46694662 |
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 NSF |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for NSF |
p-ENSG00000073969_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 |
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 |
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 NSF |
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 NSF |
- 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 NSF |
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 NSF |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
PCC | exon_skip_293420 | rs199448 | chr17:46731635 | 4.129928e-07 | 1.591560e-04 |
PCC | exon_skip_293420 | rs199535 | chr17:46745296 | 4.129928e-07 | 1.591560e-04 |
PCC | exon_skip_293420 | rs199530 | chr17:46759287 | 6.884501e-07 | 2.508691e-04 |
PCC | exon_skip_293420 | rs199436 | chr17:46711919 | 8.051782e-07 | 2.861168e-04 |
PCC | exon_skip_293420 | rs142167 | chr17:46717868 | 8.051782e-07 | 2.861168e-04 |
PCC | exon_skip_293420 | rs199452 | chr17:46723974 | 8.051782e-07 | 2.861168e-04 |
PCC | exon_skip_293420 | rs199515 | chr17:46779275 | 1.132890e-06 | 3.822271e-04 |
PCC | exon_skip_293420 | rs199498 | chr17:46788237 | 1.262239e-04 | 2.067046e-02 |
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Correlation with RNA binding proteins (RBPs) for NSF |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for NSF |
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 NSF |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |