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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 NMNAT3

check button Gene summary
Gene informationGene symbol

NMNAT3

Gene ID

349565

Gene namenicotinamide nucleotide adenylyltransferase 3
SynonymsFKSG76|PNAT-3|PNAT3
Cytomap

3q23

Type of geneprotein-coding
Descriptionnicotinamide/nicotinic acid mononucleotide adenylyltransferase 3NMN adenylyltransferase 3NMN/NaMN adenylyltransferase 3NaMN adenylyltransferase 3nicotinamide mononucleotide adenylyltransferase 3nicotinate-nucleotide adenylyltransferase 3pyridine nuc
Modification date20200313
UniProtAcc

A0A2R8Y594,

A0A2R8YE08,

A0A2R8YEU0,

A0A2R8YFG2,

A0A2R8YGL3,

D6R975,

D6REC8,

D6RGG8,

D6RGH7,

D6RHV4,

Q49AL4,

Q96T66,

Context

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

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Gene structures and expression levels for NMNAT3

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

ENSG00000163864
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
TCDOWNENST00000505779.5NMNAT3-204:lncRNA:NMNAT38.407339e-01-1.825250e+001.573386e-065.816412e-05

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 NMNAT3

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_100527chr3139578880:139579055:139582927:139583208:139627616:139627764139582927:139583208
exon_skip_102031chr3139578880:139579055:139627616:139627764:139637963:139638062139627616:139627764
exon_skip_118771chr3139627616:139627764:139637963:139638062:139677705:139677718139637963:139638062
exon_skip_152186chr3139561333:139561392:139573598:139573680:139578872:139579055139573598:139573680
exon_skip_204785chr3139561333:139561392:139572107:139572233:139573598:139573680139572107:139572233
exon_skip_232361chr3139627616:139627764:139634611:139634647:139637963:139638062139634611:139634647
exon_skip_233293chr3139561333:139561392:139573598:139573680:139575583:139575648139573598:139573680
exon_skip_241223chr3139627616:139627761:139634611:139634647:139637963:139638062139634611:139634647
exon_skip_256362chr3139561151:139561392:139572107:139572233:139573598:139573680139572107:139572233
exon_skip_276579chr3139637963:139638062:139672603:139672712:139677705:139677918139672603:139672712
exon_skip_279921chr3139561048:139561392:139578872:139579055:139627616:139627764139578872:139579055
exon_skip_281430chr3139578872:139579055:139627616:139627764:139637963:139638062139627616:139627764
exon_skip_42309chr3139573598:139573680:139575583:139575994:139578872:139579055139575583:139575994
exon_skip_45527chr3139578872:139579055:139582927:139583208:139627616:139627764139582927:139583208
exon_skip_82073chr3139560192:139561392:139578872:139579055:139627616:139627764139578872:139579055
exon_skip_96737chr3139573633:139573680:139575583:139575994:139578872:139579055139575583:139575994

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 NMNAT3

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
ENST000002962021396276161396277643UTR-3CDS
ENST000002962021396379631396380623UTR-3UTR
ENST00000296202139573598139573680Frame-shift

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
ENST000002962021396276161396277643UTR-3CDS
ENST000002962021396379631396380623UTR-3UTR
ENST00000296202139573598139573680Frame-shift

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
ENST000002962021396276161396277643UTR-3CDS
ENST000002962021396379631396380623UTR-3UTR
ENST00000296202139573598139573680Frame-shift

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Infer the effects of exon skipping event on protein functional features for NMNAT3

p-ENSG00000163864_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 NMNAT3

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
MayoENST00000296202139637963139638062hsa-miR-6727-3pchr3:139638036-1396380438mer-1achr3:139638021-139638043151.00-19.12
MayoENST00000296202139637963139638062hsa-miR-7106-3pchr3:139638015-1396380228mer-1achr3:139638000-139638022163.00-25.84
MayoENST00000296202139637963139638062hsa-miR-4312chr3:139637978-1396379858mer-1achr3:139637966-139637985148.00-17.01
MayoENST00000296202139637963139638062hsa-miR-4722-3pchr3:139638036-1396380438mer-1achr3:139638021-139638043151.00-19.12
MayoENST00000296202139637963139638062hsa-miR-6794-3pchr3:139637986-1396379938mer-1achr3:139637986-139638006153.00-20.82
MayoENST00000296202139637963139638062hsa-miR-10398-5pchr3:139638008-1396380158mer-1achr3:139637999-139638021168.00-26.44
MSBBENST00000296202139637963139638062hsa-miR-6727-3pchr3:139638036-1396380438mer-1achr3:139638021-139638043151.00-19.12
MSBBENST00000296202139637963139638062hsa-miR-7106-3pchr3:139638015-1396380228mer-1achr3:139638000-139638022163.00-25.84
MSBBENST00000296202139637963139638062hsa-miR-4312chr3:139637978-1396379858mer-1achr3:139637966-139637985148.00-17.01
MSBBENST00000296202139637963139638062hsa-miR-4722-3pchr3:139638036-1396380438mer-1achr3:139638021-139638043151.00-19.12
MSBBENST00000296202139637963139638062hsa-miR-6794-3pchr3:139637986-1396379938mer-1achr3:139637986-139638006153.00-20.82
MSBBENST00000296202139637963139638062hsa-miR-10398-5pchr3:139638008-1396380158mer-1achr3:139637999-139638021168.00-26.44
ROSMAPENST00000296202139637963139638062hsa-miR-6727-3pchr3:139638036-1396380438mer-1achr3:139638021-139638043151.00-19.12
ROSMAPENST00000296202139637963139638062hsa-miR-7106-3pchr3:139638015-1396380228mer-1achr3:139638000-139638022163.00-25.84
ROSMAPENST00000296202139637963139638062hsa-miR-4312chr3:139637978-1396379858mer-1achr3:139637966-139637985148.00-17.01
ROSMAPENST00000296202139637963139638062hsa-miR-4722-3pchr3:139638036-1396380438mer-1achr3:139638021-139638043151.00-19.12
ROSMAPENST00000296202139637963139638062hsa-miR-6794-3pchr3:139637986-1396379938mer-1achr3:139637986-139638006153.00-20.82
ROSMAPENST00000296202139637963139638062hsa-miR-10398-5pchr3:139638008-1396380158mer-1achr3:139637999-139638021168.00-26.44

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SNVs in the skipped exons for NMNAT3

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 NMNAT3

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 NMNAT3

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for NMNAT3

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

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RelatedDrugs for NMNAT3

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 NMNAT3

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