ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for NPM1

Gene summary

Gene information	Gene symbol	NPM1
	Gene ID	4869
	Gene name	nucleophosmin 1
	Synonyms	B23\|NPM
	Cytomap	5q35.1
	Type of gene	protein-coding
	Description	nucleophosminnucleolar protein NO38nucleophosmin (nucleolar phosphoprotein B23, numatrin)nucleophosmin/nucleoplasmin family, member 1testicular tissue protein Li 128
	Modification date	20200329
	UniProtAcc	A0A0S2Z491, A0A0S2Z4G7, A4ZU86, B1PHD4, E5RGW4, E5RI98, P06748, Q9BTI9,
	Context

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
NPM1	GO:0006281	DNA repair	19188445
NPM1	GO:0006334	nucleosome assembly	11602260
NPM1	GO:0006913	nucleocytoplasmic transport	16041368
NPM1	GO:0008104	protein localization	18420587
NPM1	GO:0008284	positive regulation of cell proliferation	22528486
NPM1	GO:0032071	regulation of endodeoxyribonuclease activity	19188445
NPM1	GO:0034644	cellular response to UV	19160485
NPM1	GO:0043066	negative regulation of apoptotic process	12882984
NPM1	GO:0044387	negative regulation of protein kinase activity by regulation of protein phosphorylation	12882984
NPM1	GO:0045727	positive regulation of translation	12882984
NPM1	GO:0045893	positive regulation of transcription, DNA-templated	22528486
NPM1	GO:0045944	positive regulation of transcription by RNA polymerase II	19160485
NPM1	GO:0060699	regulation of endoribonuclease activity	19188445
NPM1	GO:0060735	regulation of eIF2 alpha phosphorylation by dsRNA	12882984
NPM1	GO:1902751	positive regulation of cell cycle G2/M phase transition	22528486

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Gene structures and expression levels for NPM1

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.

ENSG00000181163

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
CB	DOWN	ENST00000524204.1	NPM1-212:retained_intron:NPM1	1.422624e+02	-2.365540e+00	1.798335e-25	2.934563e-21
TC	DOWN	ENST00000524204.1	NPM1-212:retained_intron:NPM1	3.266043e+01	-1.058735e+00	4.547127e-09	4.650443e-07

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 NPM1

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_138788	chr5	171392914:171392978:171400153:171400210:171400839:171400925	171400153:171400210
exon_skip_14178	chr5	171392916:171392978:171400153:171400210:171405302:171405403	171400153:171400210
exon_skip_144145	chr5	171387933:171388006:171390051:171390130:171391305:171391330	171390051:171390130
exon_skip_154164	chr5	171387933:171388006:171390051:171390130:171391305:171391369	171390051:171390130
exon_skip_159993	chr5	171387968:171388006:171390051:171390130:171391305:171391369	171390051:171390130
exon_skip_179346	chr5	171400153:171400210:171400839:171400925:171405302:171405401	171400839:171400925
exon_skip_192788	chr5	171387933:171388006:171391305:171391424:171391706:171391749	171391305:171391424
exon_skip_193010	chr5	171400153:171400210:171400839:171400925:171405302:171405403	171400839:171400925
exon_skip_207362	chr5	171387968:171388006:171390075:171390130:171391305:171391369	171390075:171390130
exon_skip_212575	chr5	171400153:171400210:171400839:171400925:171405302:171405402	171400839:171400925
exon_skip_232251	chr5	171392965:171392978:171400153:171400210:171405302:171405403	171400153:171400210
exon_skip_235574	chr5	171387881:171388006:171390075:171390130:171391305:171391330	171390075:171390130
exon_skip_282399	chr5	171392914:171392978:171400153:171400210:171405302:171405403	171400153:171400210
exon_skip_50087	chr5	171387881:171388006:171390075:171390130:171391305:171391369	171390075:171390130

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 NPM1

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
ENST00000296930	171390051	171390130	Frame-shift
ENST00000517671	171390051	171390130	Frame-shift
ENST00000296930	171400839	171400925	In-frame
ENST00000517671	171400839	171400925	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
ENST00000296930	171390051	171390130	Frame-shift
ENST00000517671	171390051	171390130	Frame-shift
ENST00000296930	171400839	171400925	In-frame
ENST00000517671	171400839	171400925	In-frame

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
ENST00000296930	171390051	171390130	Frame-shift
ENST00000517671	171390051	171390130	Frame-shift
ENST00000296930	171400153	171400210	Frame-shift
ENST00000517671	171400153	171400210	Frame-shift
ENST00000296930	171400839	171400925	In-frame
ENST00000517671	171400839	171400925	In-frame

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Infer the effects of exon skipping event on protein functional features for NPM1

p-ENSG00000181163_img4.png
boxplot

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
ENST00000296930	1775	294	171400839	171400925	885	970	194	223
ENST00000517671	1355	294	171400839	171400925	719	804	194	223

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
ENST00000296930	1775	294	171400839	171400925	885	970	194	223
ENST00000517671	1355	294	171400839	171400925	719	804	194	223

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
ENST00000296930	1775	294	171400839	171400925	885	970	194	223
ENST00000517671	1355	294	171400839	171400925	719	804	194	223

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
P06748	194	223	195	223	Alternative sequence	ID=VSP_003616;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P06748	194	223	195	223	Alternative sequence	ID=VSP_003616;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P06748	194	223	1	294	Chain	ID=PRO_0000219481;Note=Nucleophosmin
P06748	194	223	1	294	Chain	ID=PRO_0000219481;Note=Nucleophosmin
P06748	194	223	215	215	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25772364,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733
P06748	194	223	215	215	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25772364,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733
P06748	194	223	199	199	Modified residue	Note=Phosphothreonine%3B by CDK1%2C CDK2 and CDK6;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PubMed:17924679,ECO:0000244\|PubMed:20068231,ECO:0000269\|PubMed:12058066,ECO:0000269\|PubMed:20333249;Dbxref=PMID:17924679,P
P06748	194	223	199	199	Modified residue	Note=Phosphothreonine%3B by CDK1%2C CDK2 and CDK6;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PubMed:17924679,ECO:0000244\|PubMed:20068231,ECO:0000269\|PubMed:12058066,ECO:0000269\|PubMed:20333249;Dbxref=PMID:17924679,P
P06748	194	223	207	207	Modified residue	Note=ADP-ribosylserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28190768;Dbxref=PMID:28190768
P06748	194	223	207	207	Modified residue	Note=ADP-ribosylserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28190768;Dbxref=PMID:28190768
P06748	194	223	212	212	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:16916647,ECO:0000269\|PubMed:16107701;Dbxref=PMID:16916647,PMID:16107701
P06748	194	223	212	212	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:16916647,ECO:0000269\|PubMed:16107701;Dbxref=PMID:16916647,PMID:16107701
P06748	194	223	219	219	Modified residue	Note=Phosphothreonine%3B by CDK1;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:12058066;Dbxref=PMID:12058066
P06748	194	223	219	219	Modified residue	Note=Phosphothreonine%3B by CDK1;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:12058066;Dbxref=PMID:12058066
P06748	194	223	191	197	Motif	Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P06748	194	223	191	197	Motif	Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P06748	194	223	199	199	Mutagenesis	Note=Partial loss of phosphorylation. Does not affect phosphorylation by PLK2. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12058066,ECO:0000269\|PubMed:20352051;Dbxref=PMID:12058066,PMID:20352051
P06748	194	223	199	199	Mutagenesis	Note=Partial loss of phosphorylation. Does not affect phosphorylation by PLK2. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12058066,ECO:0000269\|PubMed:20352051;Dbxref=PMID:12058066,PMID:20352051
P06748	194	223	219	219	Mutagenesis	Note=Partial loss of phosphorylation. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12058066;Dbxref=PMID:12058066
P06748	194	223	219	219	Mutagenesis	Note=Partial loss of phosphorylation. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12058066;Dbxref=PMID:12058066
P06748	194	223	213	213	Sequence conflict	Note=D->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	213	213	Sequence conflict	Note=D->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	213	213	Sequence conflict	Note=D->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	213	213	Sequence conflict	Note=D->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	214	214	Sequence conflict	Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	214	214	Sequence conflict	Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	216	216	Sequence conflict	Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	216	216	Sequence conflict	Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	219	221	Sequence conflict	Note=TPR->SSS;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	219	221	Sequence conflict	Note=TPR->SSS;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
P06748	194	223	195	223	Alternative sequence	ID=VSP_003616;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P06748	194	223	195	223	Alternative sequence	ID=VSP_003616;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P06748	194	223	1	294	Chain	ID=PRO_0000219481;Note=Nucleophosmin
P06748	194	223	1	294	Chain	ID=PRO_0000219481;Note=Nucleophosmin
P06748	194	223	215	215	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25772364,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733
P06748	194	223	215	215	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25772364,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733
P06748	194	223	199	199	Modified residue	Note=Phosphothreonine%3B by CDK1%2C CDK2 and CDK6;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PubMed:17924679,ECO:0000244\|PubMed:20068231,ECO:0000269\|PubMed:12058066,ECO:0000269\|PubMed:20333249;Dbxref=PMID:17924679,P
P06748	194	223	199	199	Modified residue	Note=Phosphothreonine%3B by CDK1%2C CDK2 and CDK6;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PubMed:17924679,ECO:0000244\|PubMed:20068231,ECO:0000269\|PubMed:12058066,ECO:0000269\|PubMed:20333249;Dbxref=PMID:17924679,P
P06748	194	223	207	207	Modified residue	Note=ADP-ribosylserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28190768;Dbxref=PMID:28190768
P06748	194	223	207	207	Modified residue	Note=ADP-ribosylserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28190768;Dbxref=PMID:28190768
P06748	194	223	212	212	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:16916647,ECO:0000269\|PubMed:16107701;Dbxref=PMID:16916647,PMID:16107701
P06748	194	223	212	212	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:16916647,ECO:0000269\|PubMed:16107701;Dbxref=PMID:16916647,PMID:16107701
P06748	194	223	219	219	Modified residue	Note=Phosphothreonine%3B by CDK1;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:12058066;Dbxref=PMID:12058066
P06748	194	223	219	219	Modified residue	Note=Phosphothreonine%3B by CDK1;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:12058066;Dbxref=PMID:12058066
P06748	194	223	191	197	Motif	Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P06748	194	223	191	197	Motif	Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P06748	194	223	199	199	Mutagenesis	Note=Partial loss of phosphorylation. Does not affect phosphorylation by PLK2. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12058066,ECO:0000269\|PubMed:20352051;Dbxref=PMID:12058066,PMID:20352051
P06748	194	223	199	199	Mutagenesis	Note=Partial loss of phosphorylation. Does not affect phosphorylation by PLK2. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12058066,ECO:0000269\|PubMed:20352051;Dbxref=PMID:12058066,PMID:20352051
P06748	194	223	219	219	Mutagenesis	Note=Partial loss of phosphorylation. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12058066;Dbxref=PMID:12058066
P06748	194	223	219	219	Mutagenesis	Note=Partial loss of phosphorylation. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12058066;Dbxref=PMID:12058066
P06748	194	223	213	213	Sequence conflict	Note=D->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	213	213	Sequence conflict	Note=D->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	213	213	Sequence conflict	Note=D->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	213	213	Sequence conflict	Note=D->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	214	214	Sequence conflict	Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	214	214	Sequence conflict	Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	216	216	Sequence conflict	Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	216	216	Sequence conflict	Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	219	221	Sequence conflict	Note=TPR->SSS;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	219	221	Sequence conflict	Note=TPR->SSS;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
P06748	194	223	195	223	Alternative sequence	ID=VSP_003616;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P06748	194	223	195	223	Alternative sequence	ID=VSP_003616;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P06748	194	223	1	294	Chain	ID=PRO_0000219481;Note=Nucleophosmin
P06748	194	223	1	294	Chain	ID=PRO_0000219481;Note=Nucleophosmin
P06748	194	223	215	215	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25772364,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733
P06748	194	223	215	215	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:25772364,ECO:0000244\|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733
P06748	194	223	199	199	Modified residue	Note=Phosphothreonine%3B by CDK1%2C CDK2 and CDK6;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PubMed:17924679,ECO:0000244\|PubMed:20068231,ECO:0000269\|PubMed:12058066,ECO:0000269\|PubMed:20333249;Dbxref=PMID:17924679,P
P06748	194	223	199	199	Modified residue	Note=Phosphothreonine%3B by CDK1%2C CDK2 and CDK6;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269,ECO:0000269;evidence=ECO:0000244\|PubMed:17924679,ECO:0000244\|PubMed:20068231,ECO:0000269\|PubMed:12058066,ECO:0000269\|PubMed:20333249;Dbxref=PMID:17924679,P
P06748	194	223	207	207	Modified residue	Note=ADP-ribosylserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28190768;Dbxref=PMID:28190768
P06748	194	223	207	207	Modified residue	Note=ADP-ribosylserine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28190768;Dbxref=PMID:28190768
P06748	194	223	212	212	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:16916647,ECO:0000269\|PubMed:16107701;Dbxref=PMID:16916647,PMID:16107701
P06748	194	223	212	212	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:16916647,ECO:0000269\|PubMed:16107701;Dbxref=PMID:16916647,PMID:16107701
P06748	194	223	219	219	Modified residue	Note=Phosphothreonine%3B by CDK1;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:12058066;Dbxref=PMID:12058066
P06748	194	223	219	219	Modified residue	Note=Phosphothreonine%3B by CDK1;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:12058066;Dbxref=PMID:12058066
P06748	194	223	191	197	Motif	Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P06748	194	223	191	197	Motif	Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P06748	194	223	199	199	Mutagenesis	Note=Partial loss of phosphorylation. Does not affect phosphorylation by PLK2. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12058066,ECO:0000269\|PubMed:20352051;Dbxref=PMID:12058066,PMID:20352051
P06748	194	223	199	199	Mutagenesis	Note=Partial loss of phosphorylation. Does not affect phosphorylation by PLK2. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12058066,ECO:0000269\|PubMed:20352051;Dbxref=PMID:12058066,PMID:20352051
P06748	194	223	219	219	Mutagenesis	Note=Partial loss of phosphorylation. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12058066;Dbxref=PMID:12058066
P06748	194	223	219	219	Mutagenesis	Note=Partial loss of phosphorylation. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12058066;Dbxref=PMID:12058066
P06748	194	223	213	213	Sequence conflict	Note=D->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	213	213	Sequence conflict	Note=D->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	213	213	Sequence conflict	Note=D->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	213	213	Sequence conflict	Note=D->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	214	214	Sequence conflict	Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	214	214	Sequence conflict	Note=S->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	216	216	Sequence conflict	Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	216	216	Sequence conflict	Note=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	219	221	Sequence conflict	Note=TPR->SSS;Ontology_term=ECO:0000305;evidence=ECO:0000305
P06748	194	223	219	221	Sequence conflict	Note=TPR->SSS;Ontology_term=ECO:0000305;evidence=ECO:0000305

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3'-UTR located exon skipping events that lost miRNA binding sites in NPM1

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 NPM1

- 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 NPM1

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 NPM1

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 NPM1

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	RBM3	exon_skip_179346	5.462245e-01	9.542024e-14
CB	NUP42	exon_skip_179346	4.860835e-01	8.291251e-11

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RelatedDrugs for NPM1

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 NPM1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for NPM1

Gene structures and expression levels for NPM1

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NPM1

Open reading frame (ORF) annotation in the exon skipping event for NPM1

Infer the effects of exon skipping event on protein functional features for NPM1

3'-UTR located exon skipping events that lost miRNA binding sites in NPM1

SNVs in the skipped exons for NPM1

AD stage-associated exon skippint events for NPM1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NPM1

Correlation with RNA binding proteins (RBPs) for NPM1

RelatedDrugs for NPM1

RelatedDiseases for NPM1