ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for NT5C2

Gene summary

Gene information	Gene symbol	NT5C2
	Gene ID	22978
	Gene name	5'-nucleotidase, cytosolic II
	Synonyms	GMP\|NT5B\|PNT5\|SPG45\|SPG65\|cN-II
	Cytomap	10q24.32-q24.33
	Type of gene	protein-coding
	Description	cytosolic purine 5'-nucleotidase5'-nucleotidase (purine), cytosolic type BIMP-specific 5'-NTepididymis secretory sperm binding proteinspastic paraplegia 45 (autosomal recessive)
	Modification date	20200313
	UniProtAcc	H0YHR8, P49902, Q5JUV3, Q5JUV4, Q5JUV6, S4R3A6, S4R3E7,
	Context

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

Gene

GO ID

GO term

PubMed ID

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Gene structures and expression levels for NT5C2

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.

ENSG00000076685

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

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 NT5C2

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_113536	chr10	103101045:103101102:103101235:103101326:103105706:103105759	103101235:103101326
exon_skip_120894	chr10	103090936:103090996:103091564:103091615:103093139:103093309	103091564:103091615
exon_skip_123750	chr10	103099926:103100019:103100663:103100943:103101045:103101100	103100663:103100943
exon_skip_140249	chr10	103139406:103139479:103174858:103174982:103193236:103193272	103174858:103174982
exon_skip_193679	chr10	103099926:103100019:103100663:103100943:103101045:103101102	103100663:103100943
exon_skip_210095	chr10	103105781:103105801:103106589:103106706:103111745:103111805	103106589:103106706
exon_skip_22074	chr10	103095939:103095980:103097291:103097374:103098931:103098984	103097291:103097374
exon_skip_234435	chr10	103101045:103101102:103101235:103101326:103105358:103105381	103101235:103101326
exon_skip_243204	chr10	103094348:103094455:103095939:103095980:103097291:103097374	103095939:103095980
exon_skip_261470	chr10	103101235:103101326:103105358:103105381:103105706:103105759	103105358:103105381
exon_skip_279089	chr10	103111745:103111805:103139406:103139479:103174858:103174982	103139406:103139479
exon_skip_287436	chr10	103101045:103101102:103101235:103101326:103105706:103105753	103101235:103101326
exon_skip_48375	chr10	103106589:103106706:103111745:103111805:103139406:103139479	103111745:103111805
exon_skip_76505	chr10	103105706:103105801:103106589:103106706:103111745:103111805	103106589:103106706
exon_skip_79052	chr10	103099926:103100019:103100752:103100943:103101045:103101100	103100752:103100943
exon_skip_791	chr10	103101235:103101326:103105358:103105381:103105706:103105753	103105358:103105381
exon_skip_83804	chr10	103099926:103100019:103100752:103100943:103101045:103101102	103100752:103100943
exon_skip_93401	chr10	103091564:103091615:103093139:103093309:103093972:103094038	103093139:103093309
exon_skip_95270	chr10	103089841:103089908:103090611:103090787:103090936:103090996	103090611:103090787

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
exon_skip_48375	MSBB_IFG	3.200000e-01	1.918182e-01	1.281818e-01	3.228745e-02

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Open reading frame (ORF) annotation in the exon skipping event for NT5C2

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
ENST00000343289	103174858	103174982	3UTR-3CDS
ENST00000343289	103101235	103101326	Frame-shift
ENST00000404739	103101235	103101326	Frame-shift
ENST00000343289	103090611	103090787	In-frame
ENST00000404739	103090611	103090787	In-frame
ENST00000343289	103093139	103093309	In-frame
ENST00000404739	103093139	103093309	In-frame
ENST00000343289	103097291	103097374	In-frame
ENST00000404739	103097291	103097374	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
ENST00000343289	103101235	103101326	Frame-shift
ENST00000404739	103101235	103101326	Frame-shift
ENST00000343289	103093139	103093309	In-frame
ENST00000404739	103093139	103093309	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
ENST00000343289	103174858	103174982	3UTR-3CDS
ENST00000343289	103091564	103091615	Frame-shift
ENST00000404739	103091564	103091615	Frame-shift
ENST00000343289	103101235	103101326	Frame-shift
ENST00000404739	103101235	103101326	Frame-shift
ENST00000343289	103090611	103090787	In-frame
ENST00000404739	103090611	103090787	In-frame
ENST00000343289	103093139	103093309	In-frame
ENST00000404739	103093139	103093309	In-frame
ENST00000343289	103095939	103095980	In-frame
ENST00000404739	103095939	103095980	In-frame
ENST00000343289	103097291	103097374	In-frame
ENST00000404739	103097291	103097374	In-frame

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Infer the effects of exon skipping event on protein functional features for NT5C2

p-ENSG00000076685_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
ENST00000343289	3452	561	103097291	103097374	783	865	229	256
ENST00000404739	3382	561	103097291	103097374	712	794	229	256
ENST00000343289	3452	561	103093139	103093309	1084	1253	329	386
ENST00000404739	3382	561	103093139	103093309	1013	1182	329	386
ENST00000343289	3452	561	103090611	103090787	1368	1543	424	482
ENST00000404739	3382	561	103090611	103090787	1297	1472	424	482

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
ENST00000343289	3452	561	103093139	103093309	1084	1253	329	386
ENST00000404739	3382	561	103093139	103093309	1013	1182	329	386

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
ENST00000343289	3452	561	103097291	103097374	783	865	229	256
ENST00000404739	3382	561	103097291	103097374	712	794	229	256
ENST00000343289	3452	561	103095939	103095980	867	907	257	270
ENST00000404739	3382	561	103095939	103095980	796	836	257	270
ENST00000343289	3452	561	103093139	103093309	1084	1253	329	386
ENST00000404739	3382	561	103093139	103093309	1013	1182	329	386
ENST00000343289	3452	561	103090611	103090787	1368	1543	424	482
ENST00000404739	3382	561	103090611	103090787	1297	1472	424	482

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
P49902	229	256	243	248	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	229	256	243	248	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	229	256	1	561	Chain	ID=PRO_0000064389;Note=Cytosolic purine 5'-nucleotidase
P49902	229	256	1	561	Chain	ID=PRO_0000064389;Note=Cytosolic purine 5'-nucleotidase
P49902	229	256	231	242	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	229	256	231	242	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	229	256	253	263	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	229	256	253	263	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	327	329	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	327	329	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	346	351	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	346	351	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	367	371	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	367	371	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	354	354	Binding site	Note=Allosteric activator 2
P49902	329	386	354	354	Binding site	Note=Allosteric activator 2
P49902	329	386	1	561	Chain	ID=PRO_0000064389;Note=Cytosolic purine 5'-nucleotidase
P49902	329	386	1	561	Chain	ID=PRO_0000064389;Note=Cytosolic purine 5'-nucleotidase
P49902	329	386	332	339	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	332	339	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	343	345	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	343	345	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	353	357	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	353	357	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	358	364	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	358	364	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	375	384	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	375	384	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	386	398	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	386	398	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	351	351	Metal binding	Note=Magnesium
P49902	329	386	351	351	Metal binding	Note=Magnesium
P49902	424	482	440	443	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	424	482	440	443	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	424	482	446	448	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5CQZ
P49902	424	482	446	448	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5CQZ
P49902	424	482	459	463	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	424	482	459	463	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	424	482	436	436	Binding site	Note=Allosteric activator 1%3B via carbonyl oxygen
P49902	424	482	436	436	Binding site	Note=Allosteric activator 1%3B via carbonyl oxygen
P49902	424	482	453	453	Binding site	Note=Allosteric activator 2
P49902	424	482	453	453	Binding site	Note=Allosteric activator 2
P49902	424	482	1	561	Chain	ID=PRO_0000064389;Note=Cytosolic purine 5'-nucleotidase
P49902	424	482	1	561	Chain	ID=PRO_0000064389;Note=Cytosolic purine 5'-nucleotidase
P49902	424	482	421	432	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	424	482	421	432	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	424	482	449	457	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	424	482	449	457	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	424	482	465	470	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	424	482	465	470	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	424	482	460	460	Natural variant	ID=VAR_079707;Note=In SPG45%3B unknown pathological significance. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28884889;Dbxref=PMID:28884889
P49902	424	482	460	460	Natural variant	ID=VAR_079707;Note=In SPG45%3B unknown pathological significance. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28884889;Dbxref=PMID:28884889

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
P49902	329	386	327	329	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	327	329	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	346	351	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	346	351	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	367	371	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	367	371	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	354	354	Binding site	Note=Allosteric activator 2
P49902	329	386	354	354	Binding site	Note=Allosteric activator 2
P49902	329	386	1	561	Chain	ID=PRO_0000064389;Note=Cytosolic purine 5'-nucleotidase
P49902	329	386	1	561	Chain	ID=PRO_0000064389;Note=Cytosolic purine 5'-nucleotidase
P49902	329	386	332	339	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	332	339	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	343	345	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	343	345	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	353	357	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	353	357	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	358	364	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	358	364	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	375	384	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	375	384	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	386	398	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	386	398	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	351	351	Metal binding	Note=Magnesium
P49902	329	386	351	351	Metal binding	Note=Magnesium

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
P49902	229	256	243	248	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	229	256	243	248	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	229	256	1	561	Chain	ID=PRO_0000064389;Note=Cytosolic purine 5'-nucleotidase
P49902	229	256	1	561	Chain	ID=PRO_0000064389;Note=Cytosolic purine 5'-nucleotidase
P49902	229	256	231	242	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	229	256	231	242	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	229	256	253	263	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	229	256	253	263	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	257	270	266	271	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	257	270	266	271	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	257	270	1	561	Chain	ID=PRO_0000064389;Note=Cytosolic purine 5'-nucleotidase
P49902	257	270	1	561	Chain	ID=PRO_0000064389;Note=Cytosolic purine 5'-nucleotidase
P49902	257	270	253	263	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	257	270	253	263	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	327	329	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	327	329	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	346	351	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	346	351	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	367	371	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	367	371	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	354	354	Binding site	Note=Allosteric activator 2
P49902	329	386	354	354	Binding site	Note=Allosteric activator 2
P49902	329	386	1	561	Chain	ID=PRO_0000064389;Note=Cytosolic purine 5'-nucleotidase
P49902	329	386	1	561	Chain	ID=PRO_0000064389;Note=Cytosolic purine 5'-nucleotidase
P49902	329	386	332	339	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	332	339	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	343	345	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	343	345	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	353	357	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	353	357	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	358	364	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	358	364	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	375	384	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	375	384	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	386	398	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	386	398	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	329	386	351	351	Metal binding	Note=Magnesium
P49902	329	386	351	351	Metal binding	Note=Magnesium
P49902	424	482	440	443	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	424	482	440	443	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	424	482	446	448	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5CQZ
P49902	424	482	446	448	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5CQZ
P49902	424	482	459	463	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	424	482	459	463	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	424	482	436	436	Binding site	Note=Allosteric activator 1%3B via carbonyl oxygen
P49902	424	482	436	436	Binding site	Note=Allosteric activator 1%3B via carbonyl oxygen
P49902	424	482	453	453	Binding site	Note=Allosteric activator 2
P49902	424	482	453	453	Binding site	Note=Allosteric activator 2
P49902	424	482	1	561	Chain	ID=PRO_0000064389;Note=Cytosolic purine 5'-nucleotidase
P49902	424	482	1	561	Chain	ID=PRO_0000064389;Note=Cytosolic purine 5'-nucleotidase
P49902	424	482	421	432	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	424	482	421	432	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	424	482	449	457	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	424	482	449	457	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	424	482	465	470	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	424	482	465	470	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2JC9
P49902	424	482	460	460	Natural variant	ID=VAR_079707;Note=In SPG45%3B unknown pathological significance. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28884889;Dbxref=PMID:28884889
P49902	424	482	460	460	Natural variant	ID=VAR_079707;Note=In SPG45%3B unknown pathological significance. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28884889;Dbxref=PMID:28884889

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3'-UTR located exon skipping events that lost miRNA binding sites in NT5C2

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 NT5C2

- 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 NT5C2

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

ADstage

MSBB

IFG

exon_skip_83804

3.754343e-01

4.898405e-02

chr10

103099926

103100019

103100752

103100943

103101045

103101102

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NT5C2

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 NT5C2

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	SRSF2	exon_skip_83804	4.076610e-01	1.058933e-07
CB	RBM6	exon_skip_83804	-4.390785e-01	7.875044e-09
CB	TRA2A	exon_skip_83804	-4.063431e-01	1.174189e-07
CB	TRA2A	exon_skip_261470	-4.489262e-01	3.297538e-09
CB	TARDBP	exon_skip_48375	-4.528934e-01	2.047795e-09
CB	CNOT4	exon_skip_48375	-4.200281e-01	3.554998e-08
CB	RBM45	exon_skip_48375	4.338161e-01	1.113808e-08
CB	RALYL	exon_skip_279089	-4.016388e-01	2.222747e-07
CB	CELF1	exon_skip_279089	-4.346898e-01	1.589778e-08
CB	TARDBP	exon_skip_6067	-4.893030e-01	1.588252e-10
CB	FUBP1	exon_skip_6067	-4.324720e-01	2.636785e-08
CB	EIF4G2	exon_skip_6067	-4.350681e-01	2.129481e-08
CB	EIF4B	exon_skip_6067	-4.401015e-01	1.399969e-08
IFG	IGF2BP3	exon_skip_48375	4.684727e-01	1.371570e-02
IFG	ILF2	exon_skip_6067	-4.607887e-01	3.553261e-02
TC	RBM3	exon_skip_287436	4.353503e-01	8.757569e-09
TC	CNOT4	exon_skip_48375	-4.481329e-01	2.812554e-09
TC	HNRNPK	exon_skip_6067	-4.064319e-01	1.062208e-07
TC	EIF4G2	exon_skip_6067	-4.499163e-01	2.685806e-09

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RelatedDrugs for NT5C2

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
P49902	approved	DB00811	Ribavirin	small molecule	P49902

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RelatedDiseases for NT5C2

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 NT5C2

Gene structures and expression levels for NT5C2

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NT5C2

Open reading frame (ORF) annotation in the exon skipping event for NT5C2

Infer the effects of exon skipping event on protein functional features for NT5C2

3'-UTR located exon skipping events that lost miRNA binding sites in NT5C2

SNVs in the skipped exons for NT5C2

AD stage-associated exon skippint events for NT5C2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NT5C2

Correlation with RNA binding proteins (RBPs) for NT5C2

RelatedDrugs for NT5C2

RelatedDiseases for NT5C2