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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 UPF3A

check button Gene summary
Gene informationGene symbol

UPF3A

Gene ID

65110

Gene nameUPF3A regulator of nonsense mediated mRNA decay
SynonymsHUPF3A|RENT3A|UPF3
Cytomap

13q34

Type of geneprotein-coding
Descriptionregulator of nonsense transcripts 3AUPF3 regulator of nonsense transcripts homolog AhUpf3nonsense mRNA reducing factor 3Aup-frameshift suppressor 3 homolog A
Modification date20200313
UniProtAcc

A0A024RE10,

A0A087WZ33,

B3KUE7,

Q9H1J1,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
UPF3A

GO:0000184

nuclear-transcribed mRNA catabolic process, nonsense-mediated decay

16601204

UPF3A

GO:0045727

positive regulation of translation

16601204


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Gene structures and expression levels for UPF3A

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

ENSG00000169062
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.
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value

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 UPF3A

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_100316chr13114298840:114299000:114301731:114302025:114304789:114304949114301731:114302025
exon_skip_109309chr13114291634:114291792:114301731:114301867:114304789:114304949114301731:114301867
exon_skip_114024chr13114282837:114282943:114286519:114286629:114291489:114291544114286519:114286629
exon_skip_128664chr13114282906:114282943:114286259:114286400:114286519:114286629114286259:114286400
exon_skip_151518chr13114282021:114282127:114282837:114282943:114286302:114286400114282837:114282943
exon_skip_159768chr13114286519:114286629:114291489:114291544:114291634:114291697114291489:114291544
exon_skip_160076chr13114282906:114282943:114286519:114286629:114291489:114291544114286519:114286629
exon_skip_164259chr13114282021:114282127:114282837:114282943:114286519:114286607114282837:114282943
exon_skip_173758chr13114282906:114282943:114286302:114286400:114286519:114286629114286302:114286400
exon_skip_186722chr13114291743:114291792:114298840:114299000:114301731:114301756114298840:114299000
exon_skip_192534chr13114282021:114282127:114282837:114282943:114286519:114286629114282837:114282943
exon_skip_196151chr13114286519:114286629:114291489:114291544:114291634:114291718114291489:114291544
exon_skip_200076chr13114282879:114282943:114286302:114286400:114286519:114286629114286302:114286400
exon_skip_202996chr13114282837:114282943:114286302:114286400:114286519:114286629114286302:114286400
exon_skip_211845chr13114286525:114286629:114291489:114291544:114291634:114291718114291489:114291544
exon_skip_215458chr13114291727:114291792:114298840:114299000:114301731:114301756114298840:114299000
exon_skip_241177chr13114282837:114282943:114286259:114286400:114286519:114286607114286259:114286400
exon_skip_246965chr13114281645:114281846:114282021:114282127:114282837:114282943114282021:114282127
exon_skip_249910chr13114282879:114282943:114286259:114286400:114286519:114286629114286259:114286400
exon_skip_251217chr13114298952:114299000:114301731:114302025:114304789:114304949114301731:114302025
exon_skip_264316chr13114282879:114282943:114286519:114286629:114291489:114291544114286519:114286629
exon_skip_271899chr13114286519:114286629:114291605:114291792:114298840:114299000114291605:114291792
exon_skip_272703chr13114282837:114282943:114286302:114286400:114286519:114286607114286302:114286400
exon_skip_273733chr13114282837:114282943:114291489:114291544:114291634:114291718114291489:114291544
exon_skip_281716chr13114291634:114291792:114298840:114299000:114301731:114301756114298840:114299000
exon_skip_281816chr13114298849:114299000:114301731:114302025:114304789:114304949114301731:114302025
exon_skip_36698chr13114281720:114281846:114282837:114282943:114286302:114286400114282837:114282943
exon_skip_39734chr13114282837:114282943:114286259:114286400:114286519:114286629114286259:114286400
exon_skip_58368chr13114282021:114282127:114282837:114282943:114291489:114291544114282837:114282943
exon_skip_94587chr13114281720:114281846:114282021:114282127:114282837:114282943114282021:114282127

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
psi tcga
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value
exon_skip_192534Mayo_CB5.948780e-017.811688e-01-1.862908e-013.948196e-07
exon_skip_42175Mayo_CB6.863415e-018.435065e-01-1.571650e-017.983023e-07
exon_skip_123200Mayo_CB5.371951e-017.144156e-01-1.772205e-019.237781e-08
exon_skip_46508Mayo_TC3.837681e-014.863158e-01-1.025477e-013.195193e-04


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Open reading frame (ORF) annotation in the exon skipping event for UPF3A

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
ENST00000375299114282837114282943Frame-shift
ENST00000375299114291489114291544Frame-shift
ENST00000375299114298840114299000Frame-shift
ENST00000375299114301731114302025Frame-shift
ENST00000375299114286302114286400In-frame

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
ENST00000375299114282837114282943Frame-shift
ENST00000375299114291489114291544Frame-shift
ENST00000375299114298840114299000Frame-shift
ENST00000375299114301731114302025Frame-shift
ENST00000375299114286302114286400In-frame

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
ENST00000375299114282837114282943Frame-shift
ENST00000375299114291489114291544Frame-shift
ENST00000375299114298840114299000Frame-shift
ENST00000375299114301731114302025Frame-shift
ENST00000375299114286302114286400In-frame

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Infer the effects of exon skipping event on protein functional features for UPF3A

p-ENSG00000169062_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
ENST000003752992404476114286302114286400479576141173

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
ENST000003752992404476114286302114286400479576141173

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
ENST000003752992404476114286302114286400479576141173

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
Q9H1J11411731325Alternative sequenceID=VSP_012961;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9H1J1141173141173Alternative sequenceID=VSP_012962;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9H1J1141173143150Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2L08
Q9H1J11411731476ChainID=PRO_0000215296;Note=Regulator of nonsense transcripts 3A

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
Q9H1J11411731325Alternative sequenceID=VSP_012961;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9H1J1141173141173Alternative sequenceID=VSP_012962;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9H1J1141173143150Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2L08
Q9H1J11411731476ChainID=PRO_0000215296;Note=Regulator of nonsense transcripts 3A

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
Q9H1J11411731325Alternative sequenceID=VSP_012961;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9H1J1141173141173Alternative sequenceID=VSP_012962;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9H1J1141173143150Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2L08
Q9H1J11411731476ChainID=PRO_0000215296;Note=Regulator of nonsense transcripts 3A


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3'-UTR located exon skipping events that lost miRNA binding sites in UPF3A

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 UPF3A

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 UPF3A

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 UPF3A

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR
CBexon_skip_186722rs7322952chr13:1142109816.159422e-061.724475e-03
CBexon_skip_186722rs3993426chr13:1143098427.283819e-051.340318e-02
CBexon_skip_186722rs7998976chr13:1142194088.439129e-051.515857e-02
TCexon_skip_281716rs7322952chr13:1142109815.280156e-059.865015e-03
TCexon_skip_281716rs7998976chr13:1142194081.956771e-042.776417e-02
HCCexon_skip_281716rs9525316chr13:1142967604.320123e-101.375334e-07
HCCexon_skip_281716rs7316983chr13:1143094036.247949e-101.939258e-07
PCCexon_skip_281716rs7316983chr13:1143094031.843670e-042.814048e-02
DLPFCexon_skip_281716rs7316983chr13:1143094036.248358e-153.754476e-12
DLPFCexon_skip_281716rs9525316chr13:1142967601.573234e-137.891822e-11
DLPFCexon_skip_281716rs9525326chr13:1143102404.985930e-054.624423e-03
DLPFCexon_skip_281716rs7322952chr13:1142109815.326731e-043.390980e-02

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Correlation with RNA binding proteins (RBPs) for UPF3A

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBRBM4exon_skip_206420-4.676569e-011.204036e-07
CBDAZAP1exon_skip_85722-4.801279e-011.729226e-10
CBPCBP1exon_skip_85722-4.935702e-014.418544e-11
CBTRA2Aexon_skip_85722-5.559801e-013.368113e-14
CBHNRNPA2B1exon_skip_85722-5.038730e-011.490524e-11
CBRBM45exon_skip_857224.162613e-015.336863e-08
CBEIF4G2exon_skip_85722-4.165009e-015.234497e-08
CBPTBP1exon_skip_85722-4.178799e-014.681022e-08
CBHNRNPFexon_skip_85722-4.029399e-011.530064e-07
CBRBM4exon_skip_85722-5.728330e-013.707295e-15
CBRBM4Bexon_skip_85722-5.394623e-012.604540e-13
CBDAZAP1exon_skip_2313-4.377974e-011.096581e-07
CBTARDBPexon_skip_2313-4.126954e-016.557449e-07
CBELAVL1exon_skip_2313-4.579732e-012.337210e-08
CBSAMD4Aexon_skip_2313-4.356082e-011.289150e-07
CBCNOT4exon_skip_2313-4.637990e-011.467658e-08
CBPCBP1exon_skip_2313-5.067005e-013.599395e-10
CBPCBP4exon_skip_23134.016954e-011.373193e-06
CBTRA2Aexon_skip_2313-5.213747e-018.958488e-11
CBFUBP1exon_skip_2313-4.214431e-013.574178e-07
CBKHSRPexon_skip_2313-4.190358e-014.231050e-07
CBHNRNPA2B1exon_skip_2313-4.755938e-015.568955e-09
CBHNRNPABexon_skip_2313-4.306845e-011.847301e-07
CBHNRNPCexon_skip_2313-4.415999e-018.256848e-08
CBEIF4G2exon_skip_2313-4.239933e-012.984885e-07
CBHNRNPFexon_skip_2313-4.200348e-013.945571e-07
CBRBM4exon_skip_2313-4.925106e-011.299140e-09
CBRBM4Bexon_skip_2313-4.990296e-017.256647e-10
CBDAZAP1exon_skip_32110-4.798801e-011.772299e-10
CBTARDBPexon_skip_32110-4.451733e-014.609867e-09
CBELAVL1exon_skip_32110-4.656251e-017.063133e-10
CBZNF638exon_skip_32110-4.401415e-017.178266e-09
CBSAMD4Aexon_skip_32110-4.749052e-012.892260e-10
CBU2AF2exon_skip_32110-5.589134e-012.314499e-14
CBCNOT4exon_skip_32110-4.918748e-015.265562e-11
CBFXR2exon_skip_32110-4.117189e-017.682448e-08
CBPCBP1exon_skip_32110-4.929736e-014.700343e-11
CBPCBP4exon_skip_321104.180076e-014.632688e-08
CBTRA2Aexon_skip_32110-5.580086e-012.599460e-14
CBFUBP1exon_skip_32110-4.569257e-011.592616e-09
CBKHSRPexon_skip_32110-4.390382e-017.902721e-09
CBHNRNPA2B1exon_skip_32110-5.030323e-011.630954e-11
CBRBM45exon_skip_321104.093942e-019.237792e-08
CBHNRNPABexon_skip_32110-4.463687e-014.145093e-09
CBHNRNPCexon_skip_32110-4.454865e-014.483437e-09
CBEIF4G2exon_skip_32110-4.165209e-015.226024e-08
CBPTBP1exon_skip_32110-4.146972e-016.053771e-08
CBSRSF4exon_skip_32110-4.429702e-015.601194e-09
CBHNRNPFexon_skip_32110-4.016687e-011.687824e-07
CBRBM4exon_skip_32110-5.700990e-015.348659e-15
CBRBM4Bexon_skip_32110-5.421347e-011.884877e-13
CBNUP42exon_skip_1925344.721766e-013.314000e-10
CBPTBP1exon_skip_192534-4.553837e-011.628877e-09
CBRBM23exon_skip_192534-4.409746e-015.971960e-09
CBTARDBPexon_skip_46508-4.371383e-011.608034e-08
CBPABPN1Lexon_skip_465084.248874e-014.397208e-08
CBSAMD4Aexon_skip_46508-4.400115e-011.262710e-08
CBCNOT4exon_skip_46508-4.377235e-011.531054e-08
CBMBNL1exon_skip_46508-4.144591e-011.003785e-07
CBKHDRBS3exon_skip_46508-4.031955e-012.373511e-07
CBHNRNPCexon_skip_46508-5.283219e-012.240051e-12
CBRBM23exon_skip_46508-4.183337e-017.410882e-08
CBDAZAP1exon_skip_42175-4.230900e-012.759614e-08
CBTARDBPexon_skip_42175-4.734107e-012.937920e-10
CBZNF638exon_skip_42175-6.344349e-012.748124e-19
CBRBM6exon_skip_42175-5.115450e-015.550140e-12
CBSAMD4Aexon_skip_42175-5.661147e-017.453620e-15
CBU2AF2exon_skip_42175-6.490981e-012.178938e-20
CBCNOT4exon_skip_42175-5.313983e-015.737373e-13
CBRBM3exon_skip_421755.381938e-012.548943e-13
CBPCBP1exon_skip_42175-4.034371e-011.343104e-07
CBPCBP4exon_skip_421755.306494e-016.267082e-13
CBTRA2Aexon_skip_42175-5.869919e-014.241084e-16
CBFUBP1exon_skip_42175-5.047751e-011.164292e-11
CBHNRNPA2B1exon_skip_42175-5.544240e-013.404630e-14
CBRBM45exon_skip_421756.983284e-011.434056e-24
CBHNRNPCexon_skip_42175-5.009100e-011.764470e-11
CBNUP42exon_skip_421754.824100e-011.202830e-10
CBPTBP1exon_skip_42175-4.406461e-016.147181e-09
CBRBM23exon_skip_42175-4.320628e-011.294679e-08
CBSRSF4exon_skip_42175-4.426690e-015.141865e-09
CBRBM4Bexon_skip_42175-5.362440e-013.223029e-13
CBPCBP4exon_skip_2000764.352032e-019.882089e-09
CBNUP42exon_skip_2000764.301959e-011.518241e-08
CBPABPC1exon_skip_2000764.182565e-014.111288e-08
CBPCBP4exon_skip_1232005.830298e-017.423212e-16
CBTRA2Aexon_skip_123200-5.516818e-014.820757e-14
CBNUP42exon_skip_1232004.823069e-011.215370e-10
DLPFCRBM3exon_skip_421755.477029e-014.379539e-28
DLPFCDAZAP1exon_skip_2727034.092496e-013.142296e-11
DLPFCSRSF2exon_skip_2727034.342335e-011.351636e-12
DLPFCILF2exon_skip_2727034.107739e-012.612608e-11
DLPFCPCBP4exon_skip_2727034.148348e-011.590356e-11
DLPFCKHDRBS2exon_skip_2727035.223664e-012.052860e-18
DLPFCSRSF9exon_skip_2727034.190404e-019.443999e-12
DLPFCSART3exon_skip_2727034.343122e-011.337750e-12
HCCMSI1exon_skip_42175-4.220115e-013.584749e-13
HCCSAMD4Aexon_skip_42175-5.292045e-014.936682e-21
HCCRBM3exon_skip_421755.552620e-012.115428e-23
HCCEIF4G2exon_skip_42175-4.228074e-013.203992e-13
HCCPTBP1exon_skip_42175-4.132356e-011.212814e-12
HCCRBM4Bexon_skip_42175-4.129191e-011.266481e-12
HCCMSI1exon_skip_202996-4.525388e-014.900488e-15
IFGIGF2BP2exon_skip_1925345.101757e-012.154860e-02
IFGTRNAU1APexon_skip_192534-4.448007e-014.940363e-02
IFGRALYLexon_skip_192534-4.759225e-013.391189e-02
IFGPTBP1exon_skip_192534-4.783927e-013.286798e-02
IFGRBM23exon_skip_192534-4.858033e-012.988629e-02
IFGCPEB1exon_skip_192534-5.953148e-015.618938e-03
PCCSAMD4Aexon_skip_42175-4.561353e-012.425590e-12
PCCRBM3exon_skip_421756.174637e-018.900867e-24
PCCMSI1exon_skip_202996-4.183982e-012.158056e-10
TCRBMS2exon_skip_192534-4.270706e-011.783118e-08
TCPCBP4exon_skip_465084.224805e-018.315895e-07
TCHNRNPABexon_skip_46508-4.126565e-011.573658e-06
TCRBMS2exon_skip_42175-4.918985e-013.957415e-11
TCMSI1exon_skip_42175-4.302803e-011.356610e-08
TCSAMD4Aexon_skip_42175-5.160840e-012.857491e-12
TCRBM3exon_skip_421756.392546e-019.296878e-20
TCPTBP1exon_skip_42175-4.775798e-011.706980e-10
TCNOVA1exon_skip_421754.436798e-014.200139e-09
TCMSI1exon_skip_173758-4.788082e-011.509774e-10
TCSRSF2exon_skip_1232004.851031e-011.586190e-10
TCMSI1exon_skip_123200-4.098939e-011.180877e-07

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RelatedDrugs for UPF3A

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 UPF3A

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