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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for NSF

check button Gene summary
Gene informationGene symbol

NSF

Gene ID

4905

Gene nameN-ethylmaleimide sensitive factor, vesicle fusing ATPase
SynonymsSEC18|SKD2
Cytomap

17q21.31

Type of geneprotein-coding
Descriptionvesicle-fusing ATPaseN-ethylmaleimide-sensitive factor-like proteinN-ethylmaleimide-sensitive fusion proteinNEM-sensitive fusion proteinepididymis secretory sperm binding proteinvesicular-fusion protein NSF
Modification date20200313
UniProtAcc

D3DXJ4,

I3L0L3,

I3L0N3,

I3L2G1,

I3L338,

I3L4Q9,

K7EQD6,

P46459,

Q96D47,

Context- 18524483(Gene Expression Patterns of Hippocampus and Cerebral Cortex of Senescence-Accelerated Mouse Treated With Huang-Lian-Jie-Du Decoction)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
NSF

GO:0001921

positive regulation of receptor recycling

15613468


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Gene structures and expression levels for NSF

check buttonSkipped 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.
all structure

ENSG00000073969
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
PGDOWNENST00000398238.8NSF-201:protein_coding:NSF1.284306e+02-1.015870e+007.078197e-052.129082e-03
PGDOWNENST00000576346.5NSF-208:protein_coding:NSF1.429920e+00-1.040341e+004.385405e-034.168359e-02

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NSF

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_129443chr1746643104:46643259:46674414:46674613:46692903:4669306846674414:46674613
exon_skip_145675chr1746755314:46755369:46755499:46755597:46755802:4675583246755499:46755597
exon_skip_146900chr1746624244:46624329:46626613:46626712:46637376:4663754246626613:46626712
exon_skip_187930chr1746692903:46693068:46693847:46693921:46694475:4669466246693847:46693921
exon_skip_207680chr1746755314:46755369:46755499:46755597:46755802:4675582646755499:46755597
exon_skip_209063chr1746637376:46637542:46640054:46640161:46640643:4664069646640054:46640161
exon_skip_24124chr1746626613:46626712:46630411:46630450:46637376:4663747246630411:46630450
exon_skip_255005chr1746626613:46626712:46630411:46630450:46637376:4663754246630411:46630450
exon_skip_256554chr1746624244:46624329:46626613:46626712:46630411:4663045046626613:46626712
exon_skip_26122chr1746630411:46630450:46637376:46637542:46640054:4664014746637376:46637542
exon_skip_285501chr1746626613:46626712:46637376:46637542:46640054:4664014746637376:46637542
exon_skip_293420chr1746755314:46755369:46755499:46755597:46755802:4675583746755499:46755597
exon_skip_53473chr1746728855:46728934:46749773:46749907:46751503:4675158346749773:46749907
exon_skip_79217chr1746626613:46626712:46630411:46630450:46637376:4663747346630411:46630450
exon_skip_80433chr1746626646:46626712:46630411:46630450:46637376:4663754246630411:46630450
exon_skip_90724chr1746590760:46590787:46624244:46624329:46626613:4662666346624244:46624329
exon_skip_95922chr1746693847:46693921:46694475:46694662:46704759:4670485446694475:46694662

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for NSF

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF

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Infer the effects of exon skipping event on protein functional features for NSF

p-ENSG00000073969_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button 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 featureDescription of feature

check button 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 featureDescription of feature

check button 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 featureDescription of feature


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3'-UTR located exon skipping events that lost miRNA binding sites in NSF

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for NSF

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for NSF

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NSF

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR
PCCexon_skip_293420rs199448chr17:467316354.129928e-071.591560e-04
PCCexon_skip_293420rs199535chr17:467452964.129928e-071.591560e-04
PCCexon_skip_293420rs199530chr17:467592876.884501e-072.508691e-04
PCCexon_skip_293420rs199436chr17:467119198.051782e-072.861168e-04
PCCexon_skip_293420rs142167chr17:467178688.051782e-072.861168e-04
PCCexon_skip_293420rs199452chr17:467239748.051782e-072.861168e-04
PCCexon_skip_293420rs199515chr17:467792751.132890e-063.822271e-04
PCCexon_skip_293420rs199498chr17:467882371.262239e-042.067046e-02

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Correlation with RNA binding proteins (RBPs) for NSF

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value

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RelatedDrugs for NSF

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for NSF

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource