ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for DROSHA

Gene summary

Gene information	Gene symbol	DROSHA
	Gene ID	29102
	Gene name	drosha ribonuclease III
	Synonyms	ETOHI2\|HSA242976\|RANSE3L\|RN3\|RNASE3L\|RNASEN
	Cytomap	5p13.3
	Type of gene	protein-coding
	Description	ribonuclease 3RNase IIIdrosha, double-stranded RNA-specific endoribonucleasenuclear RNase III Droshap241putative protein p241 which interacts with transcription factor Sp1putative ribonuclease IIIribonuclease type III, nuclear
	Modification date	20200313
	UniProtAcc	E5RHD1, H0YB67, H7C5U6, Q9NRR4,
	Context

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

Gene	GO ID	GO term	PubMed ID
DROSHA	GO:0031053	primary miRNA processing	14508493\|15574589
DROSHA	GO:0050829	defense response to Gram-negative bacterium	20180804
DROSHA	GO:0050830	defense response to Gram-positive bacterium	20180804

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Gene structures and expression levels for DROSHA

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.

ENSG00000113360

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	UP	ENST00000512076.1	DROSHA-215:protein_coding:DROSHA	4.053467e+01	9.761056e-01	7.419239e-10	3.410388e-08
CB	DOWN	ENST00000511778.5	DROSHA-213:retained_intron:DROSHA	2.335122e+02	-8.027465e-01	6.256608e-07	1.007268e-05
CB	DOWN	ENST00000504361.1	DROSHA-204:lncRNA:DROSHA	1.803995e+00	-2.179568e+00	5.744332e-03	2.206852e-02

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 DROSHA

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_109463	chr5	31466182:31466281:31467142:31467166:31467939:31468006	31467142:31467166
exon_skip_158150	chr5	31530798:31530924:31531450:31531525:31531990:31532061	31531450:31531525
exon_skip_185639	chr5	31504555:31504635:31508621:31508775:31511035:31511176	31508621:31508775
exon_skip_18801	chr5	31401551:31401562:31405677:31405723:31406853:31406945	31405677:31405723
exon_skip_191741	chr5	31429475:31429545:31431576:31431678:31435765:31435864	31431576:31431678
exon_skip_204435	chr5	31514994:31515219:31515454:31515564:31521123:31521215	31515454:31515564
exon_skip_210379	chr5	31466182:31466281:31467142:31467166:31467939:31467991	31467142:31467166
exon_skip_211187	chr5	31514994:31515219:31521123:31521215:31526079:31526326	31521123:31521215
exon_skip_232021	chr5	31466182:31466281:31467939:31468063:31472063:31472232	31467939:31468063
exon_skip_261275	chr5	31515196:31515219:31521123:31521215:31526079:31526326	31521123:31521215
exon_skip_264642	chr5	31495286:31495372:31504555:31504635:31508621:31508775	31504555:31504635
exon_skip_268589	chr5	31514994:31515219:31515454:31515564:31521123:31521213	31515454:31515564
exon_skip_277090	chr5	31515454:31515564:31521123:31521215:31526079:31526290	31521123:31521215
exon_skip_279376	chr5	31409056:31409159:31409250:31409332:31410746:31410887	31409250:31409332
exon_skip_291262	chr5	31515454:31515564:31521123:31521215:31526079:31526211	31521123:31521215
exon_skip_295839	chr5	31409144:31409159:31409250:31409332:31410746:31410887	31409250:31409332
exon_skip_40876	chr5	31515454:31515564:31521123:31521215:31526079:31526326	31521123:31521215
exon_skip_41135	chr5	31467963:31468063:31472063:31472232:31483554:31483628	31472063:31472232
exon_skip_45440	chr5	31515196:31515219:31515454:31515564:31526079:31526326	31515454:31515564
exon_skip_65935	chr5	31515196:31515219:31515454:31515564:31521123:31521215	31515454:31515564
exon_skip_82047	chr5	31431576:31431678:31435765:31435864:31437239:31437298	31435765:31435864
exon_skip_8607	chr5	31486491:31486562:31493207:31493293:31495286:31495372	31493207:31493293
exon_skip_89378	chr5	31514994:31515219:31515454:31515564:31526079:31526326	31515454:31515564

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 DROSHA

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
ENST00000344624	31405677	31405723	Frame-shift
ENST00000511367	31405677	31405723	Frame-shift
ENST00000344624	31409250	31409332	Frame-shift
ENST00000511367	31409250	31409332	Frame-shift
ENST00000344624	31431576	31431678	Frame-shift
ENST00000511367	31431576	31431678	Frame-shift
ENST00000344624	31472063	31472232	Frame-shift
ENST00000511367	31472063	31472232	Frame-shift
ENST00000344624	31508621	31508775	Frame-shift
ENST00000511367	31508621	31508775	Frame-shift
ENST00000344624	31493207	31493293	In-frame
ENST00000511367	31493207	31493293	In-frame
ENST00000344624	31515454	31515564	In-frame
ENST00000511367	31515454	31515564	In-frame
ENST00000344624	31521123	31521215	In-frame
ENST00000511367	31521123	31521215	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
ENST00000344624	31515454	31515564	In-frame
ENST00000511367	31515454	31515564	In-frame
ENST00000344624	31521123	31521215	In-frame
ENST00000511367	31521123	31521215	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
ENST00000344624	31405677	31405723	Frame-shift
ENST00000511367	31405677	31405723	Frame-shift
ENST00000344624	31409250	31409332	Frame-shift
ENST00000511367	31409250	31409332	Frame-shift
ENST00000344624	31431576	31431678	Frame-shift
ENST00000511367	31431576	31431678	Frame-shift
ENST00000344624	31435765	31435864	Frame-shift
ENST00000511367	31435765	31435864	Frame-shift
ENST00000344624	31467939	31468063	Frame-shift
ENST00000511367	31467939	31468063	Frame-shift
ENST00000344624	31472063	31472232	Frame-shift
ENST00000511367	31472063	31472232	Frame-shift
ENST00000344624	31508621	31508775	Frame-shift
ENST00000511367	31508621	31508775	Frame-shift
ENST00000344624	31493207	31493293	In-frame
ENST00000511367	31493207	31493293	In-frame
ENST00000344624	31504555	31504635	In-frame
ENST00000511367	31504555	31504635	In-frame
ENST00000344624	31515454	31515564	In-frame
ENST00000511367	31515454	31515564	In-frame
ENST00000344624	31521123	31521215	In-frame
ENST00000511367	31521123	31521215	In-frame

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

p-ENSG00000113360_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
ENST00000344624	5119	1374	31521123	31521215	902	993	285	315
ENST00000511367	5322	1374	31521123	31521215	1100	1191	285	315
ENST00000344624	5119	1374	31515454	31515564	995	1104	316	352
ENST00000511367	5322	1374	31515454	31515564	1193	1302	316	352
ENST00000344624	5119	1374	31493207	31493293	1803	1888	585	613
ENST00000511367	5322	1374	31493207	31493293	2001	2086	585	613

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
ENST00000344624	5119	1374	31521123	31521215	902	993	285	315
ENST00000511367	5322	1374	31521123	31521215	1100	1191	285	315
ENST00000344624	5119	1374	31515454	31515564	995	1104	316	352
ENST00000511367	5322	1374	31515454	31515564	1193	1302	316	352

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
ENST00000344624	5119	1374	31521123	31521215	902	993	285	315
ENST00000511367	5322	1374	31521123	31521215	1100	1191	285	315
ENST00000344624	5119	1374	31515454	31515564	995	1104	316	352
ENST00000511367	5322	1374	31515454	31515564	1193	1302	316	352
ENST00000344624	5119	1374	31504555	31504635	1635	1714	529	555
ENST00000511367	5322	1374	31504555	31504635	1833	1912	529	555
ENST00000344624	5119	1374	31493207	31493293	1803	1888	585	613
ENST00000511367	5322	1374	31493207	31493293	2001	2086	585	613

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
Q9NRR4	285	315	285	353	Alternative sequence	ID=VSP_005777;Note=In isoform 2. RERERERHRHRDNRRSPSLERSYKKEYKRSGRSYGLSVVPEPAGCTPELPGEIIKNTDSWAPPLEIVNH->S;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10976766;Dbxref=PMID:10976766
Q9NRR4	285	315	285	353	Alternative sequence	ID=VSP_005777;Note=In isoform 2. RERERERHRHRDNRRSPSLERSYKKEYKRSGRSYGLSVVPEPAGCTPELPGEIIKNTDSWAPPLEIVNH->S;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10976766;Dbxref=PMID:10976766
Q9NRR4	285	315	1	1374	Chain	ID=PRO_0000180468;Note=Ribonuclease 3
Q9NRR4	285	315	1	1374	Chain	ID=PRO_0000180468;Note=Ribonuclease 3
Q9NRR4	285	315	219	316	Compositional bias	Note=Arg-rich
Q9NRR4	285	315	219	316	Compositional bias	Note=Arg-rich
Q9NRR4	316	352	285	353	Alternative sequence	ID=VSP_005777;Note=In isoform 2. RERERERHRHRDNRRSPSLERSYKKEYKRSGRSYGLSVVPEPAGCTPELPGEIIKNTDSWAPPLEIVNH->S;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10976766;Dbxref=PMID:10976766
Q9NRR4	316	352	285	353	Alternative sequence	ID=VSP_005777;Note=In isoform 2. RERERERHRHRDNRRSPSLERSYKKEYKRSGRSYGLSVVPEPAGCTPELPGEIIKNTDSWAPPLEIVNH->S;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10976766;Dbxref=PMID:10976766
Q9NRR4	316	352	316	352	Alternative sequence	ID=VSP_012450;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005;Dbxref=PMID:15489334,PMID:17974005
Q9NRR4	316	352	316	352	Alternative sequence	ID=VSP_012450;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005;Dbxref=PMID:15489334,PMID:17974005
Q9NRR4	316	352	1	1374	Chain	ID=PRO_0000180468;Note=Ribonuclease 3
Q9NRR4	316	352	1	1374	Chain	ID=PRO_0000180468;Note=Ribonuclease 3
Q9NRR4	316	352	219	316	Compositional bias	Note=Arg-rich
Q9NRR4	316	352	219	316	Compositional bias	Note=Arg-rich
Q9NRR4	316	352	321	321	Natural variant	ID=VAR_061778;Note=S->L;Dbxref=dbSNP:rs55656741
Q9NRR4	316	352	321	321	Natural variant	ID=VAR_061778;Note=S->L;Dbxref=dbSNP:rs55656741
Q9NRR4	585	613	591	593	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5B16
Q9NRR4	585	613	591	593	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5B16
Q9NRR4	585	613	595	610	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5B16
Q9NRR4	585	613	595	610	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5B16
Q9NRR4	585	613	1	1374	Chain	ID=PRO_0000180468;Note=Ribonuclease 3
Q9NRR4	585	613	1	1374	Chain	ID=PRO_0000180468;Note=Ribonuclease 3
Q9NRR4	585	613	609	609	Metal binding	Note=Zinc 2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26748718;Dbxref=PMID:26748718
Q9NRR4	585	613	609	609	Metal binding	Note=Zinc 2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26748718;Dbxref=PMID:26748718
Q9NRR4	585	613	390	1365	Region	Note=Necessary for interaction with DGCR8 and pri-miRNA processing activity;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:26027739,ECO:0000269\|PubMed:26748718;Dbxref=PMID:26027739,PMID:26748718
Q9NRR4	585	613	390	1365	Region	Note=Necessary for interaction with DGCR8 and pri-miRNA processing activity;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:26027739,ECO:0000269\|PubMed:26748718;Dbxref=PMID:26027739,PMID:26748718
Q9NRR4	585	613	612	612	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NRR4	585	613	612	612	Sequence conflict	Note=L->P;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
Q9NRR4	285	315	285	353	Alternative sequence	ID=VSP_005777;Note=In isoform 2. RERERERHRHRDNRRSPSLERSYKKEYKRSGRSYGLSVVPEPAGCTPELPGEIIKNTDSWAPPLEIVNH->S;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10976766;Dbxref=PMID:10976766
Q9NRR4	285	315	285	353	Alternative sequence	ID=VSP_005777;Note=In isoform 2. RERERERHRHRDNRRSPSLERSYKKEYKRSGRSYGLSVVPEPAGCTPELPGEIIKNTDSWAPPLEIVNH->S;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10976766;Dbxref=PMID:10976766
Q9NRR4	285	315	1	1374	Chain	ID=PRO_0000180468;Note=Ribonuclease 3
Q9NRR4	285	315	1	1374	Chain	ID=PRO_0000180468;Note=Ribonuclease 3
Q9NRR4	285	315	219	316	Compositional bias	Note=Arg-rich
Q9NRR4	285	315	219	316	Compositional bias	Note=Arg-rich
Q9NRR4	316	352	285	353	Alternative sequence	ID=VSP_005777;Note=In isoform 2. RERERERHRHRDNRRSPSLERSYKKEYKRSGRSYGLSVVPEPAGCTPELPGEIIKNTDSWAPPLEIVNH->S;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10976766;Dbxref=PMID:10976766
Q9NRR4	316	352	285	353	Alternative sequence	ID=VSP_005777;Note=In isoform 2. RERERERHRHRDNRRSPSLERSYKKEYKRSGRSYGLSVVPEPAGCTPELPGEIIKNTDSWAPPLEIVNH->S;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10976766;Dbxref=PMID:10976766
Q9NRR4	316	352	316	352	Alternative sequence	ID=VSP_012450;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005;Dbxref=PMID:15489334,PMID:17974005
Q9NRR4	316	352	316	352	Alternative sequence	ID=VSP_012450;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005;Dbxref=PMID:15489334,PMID:17974005
Q9NRR4	316	352	1	1374	Chain	ID=PRO_0000180468;Note=Ribonuclease 3
Q9NRR4	316	352	1	1374	Chain	ID=PRO_0000180468;Note=Ribonuclease 3
Q9NRR4	316	352	219	316	Compositional bias	Note=Arg-rich
Q9NRR4	316	352	219	316	Compositional bias	Note=Arg-rich
Q9NRR4	316	352	321	321	Natural variant	ID=VAR_061778;Note=S->L;Dbxref=dbSNP:rs55656741
Q9NRR4	316	352	321	321	Natural variant	ID=VAR_061778;Note=S->L;Dbxref=dbSNP:rs55656741

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
Q9NRR4	285	315	285	353	Alternative sequence	ID=VSP_005777;Note=In isoform 2. RERERERHRHRDNRRSPSLERSYKKEYKRSGRSYGLSVVPEPAGCTPELPGEIIKNTDSWAPPLEIVNH->S;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10976766;Dbxref=PMID:10976766
Q9NRR4	285	315	285	353	Alternative sequence	ID=VSP_005777;Note=In isoform 2. RERERERHRHRDNRRSPSLERSYKKEYKRSGRSYGLSVVPEPAGCTPELPGEIIKNTDSWAPPLEIVNH->S;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10976766;Dbxref=PMID:10976766
Q9NRR4	285	315	1	1374	Chain	ID=PRO_0000180468;Note=Ribonuclease 3
Q9NRR4	285	315	1	1374	Chain	ID=PRO_0000180468;Note=Ribonuclease 3
Q9NRR4	285	315	219	316	Compositional bias	Note=Arg-rich
Q9NRR4	285	315	219	316	Compositional bias	Note=Arg-rich
Q9NRR4	316	352	285	353	Alternative sequence	ID=VSP_005777;Note=In isoform 2. RERERERHRHRDNRRSPSLERSYKKEYKRSGRSYGLSVVPEPAGCTPELPGEIIKNTDSWAPPLEIVNH->S;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10976766;Dbxref=PMID:10976766
Q9NRR4	316	352	285	353	Alternative sequence	ID=VSP_005777;Note=In isoform 2. RERERERHRHRDNRRSPSLERSYKKEYKRSGRSYGLSVVPEPAGCTPELPGEIIKNTDSWAPPLEIVNH->S;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:10976766;Dbxref=PMID:10976766
Q9NRR4	316	352	316	352	Alternative sequence	ID=VSP_012450;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005;Dbxref=PMID:15489334,PMID:17974005
Q9NRR4	316	352	316	352	Alternative sequence	ID=VSP_012450;Note=In isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:17974005;Dbxref=PMID:15489334,PMID:17974005
Q9NRR4	316	352	1	1374	Chain	ID=PRO_0000180468;Note=Ribonuclease 3
Q9NRR4	316	352	1	1374	Chain	ID=PRO_0000180468;Note=Ribonuclease 3
Q9NRR4	316	352	219	316	Compositional bias	Note=Arg-rich
Q9NRR4	316	352	219	316	Compositional bias	Note=Arg-rich
Q9NRR4	316	352	321	321	Natural variant	ID=VAR_061778;Note=S->L;Dbxref=dbSNP:rs55656741
Q9NRR4	316	352	321	321	Natural variant	ID=VAR_061778;Note=S->L;Dbxref=dbSNP:rs55656741
Q9NRR4	529	555	531	535	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5B16
Q9NRR4	529	555	531	535	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5B16
Q9NRR4	529	555	1	1374	Chain	ID=PRO_0000180468;Note=Ribonuclease 3
Q9NRR4	529	555	1	1374	Chain	ID=PRO_0000180468;Note=Ribonuclease 3
Q9NRR4	529	555	536	536	Metal binding	Note=Zinc 1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26748718;Dbxref=PMID:26748718
Q9NRR4	529	555	536	536	Metal binding	Note=Zinc 1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26748718;Dbxref=PMID:26748718
Q9NRR4	529	555	538	538	Metal binding	Note=Zinc 1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26748718;Dbxref=PMID:26748718
Q9NRR4	529	555	538	538	Metal binding	Note=Zinc 1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26748718;Dbxref=PMID:26748718
Q9NRR4	529	555	549	549	Metal binding	Note=Zinc 1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26748718;Dbxref=PMID:26748718
Q9NRR4	529	555	549	549	Metal binding	Note=Zinc 1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26748718;Dbxref=PMID:26748718
Q9NRR4	529	555	536	536	Mutagenesis	Note=Impairs protein folding and stability%3B when associated with A-538. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26748718;Dbxref=PMID:26748718
Q9NRR4	529	555	536	536	Mutagenesis	Note=Impairs protein folding and stability%3B when associated with A-538. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26748718;Dbxref=PMID:26748718
Q9NRR4	529	555	538	538	Mutagenesis	Note=Impairs protein folding and stability%3B when associated with A-536. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26748718;Dbxref=PMID:26748718
Q9NRR4	529	555	538	538	Mutagenesis	Note=Impairs protein folding and stability%3B when associated with A-536. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26748718;Dbxref=PMID:26748718
Q9NRR4	529	555	390	1365	Region	Note=Necessary for interaction with DGCR8 and pri-miRNA processing activity;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:26027739,ECO:0000269\|PubMed:26748718;Dbxref=PMID:26027739,PMID:26748718
Q9NRR4	529	555	390	1365	Region	Note=Necessary for interaction with DGCR8 and pri-miRNA processing activity;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:26027739,ECO:0000269\|PubMed:26748718;Dbxref=PMID:26027739,PMID:26748718
Q9NRR4	529	555	547	550	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5B16
Q9NRR4	529	555	547	550	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5B16
Q9NRR4	585	613	591	593	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5B16
Q9NRR4	585	613	591	593	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5B16
Q9NRR4	585	613	595	610	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5B16
Q9NRR4	585	613	595	610	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5B16
Q9NRR4	585	613	1	1374	Chain	ID=PRO_0000180468;Note=Ribonuclease 3
Q9NRR4	585	613	1	1374	Chain	ID=PRO_0000180468;Note=Ribonuclease 3
Q9NRR4	585	613	609	609	Metal binding	Note=Zinc 2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26748718;Dbxref=PMID:26748718
Q9NRR4	585	613	609	609	Metal binding	Note=Zinc 2;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26748718;Dbxref=PMID:26748718
Q9NRR4	585	613	390	1365	Region	Note=Necessary for interaction with DGCR8 and pri-miRNA processing activity;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:26027739,ECO:0000269\|PubMed:26748718;Dbxref=PMID:26027739,PMID:26748718
Q9NRR4	585	613	390	1365	Region	Note=Necessary for interaction with DGCR8 and pri-miRNA processing activity;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:26027739,ECO:0000269\|PubMed:26748718;Dbxref=PMID:26027739,PMID:26748718
Q9NRR4	585	613	612	612	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9NRR4	585	613	612	612	Sequence conflict	Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305

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

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 DROSHA

- 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 DROSHA

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 DROSHA

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
CB	exon_skip_89378	rs13186496	chr5:31582472	1.839602e-05	4.333785e-03
CB	exon_skip_158150	rs12658729	chr5:31553861	1.918726e-05	4.473524e-03
CB	exon_skip_158150	rs17409624	chr5:31528626	2.209594e-05	5.033893e-03
CB	exon_skip_89378	rs7719497	chr5:31520602	4.559525e-05	9.102069e-03
CB	exon_skip_158150	rs6891910	chr5:31589373	1.350463e-04	2.192112e-02
CB	exon_skip_158150	rs7719497	chr5:31520602	1.568980e-04	2.468797e-02
CB	exon_skip_210379	rs11746324	chr5:31560519	3.076741e-04	4.142692e-02
TC	exon_skip_158150	rs12658729	chr5:31553861	1.111605e-04	1.771234e-02
TC	exon_skip_158150	rs6891910	chr5:31589373	3.952192e-04	4.891058e-02
HCC	exon_skip_158150	rs17409588	chr5:31528520	1.849897e-16	1.548547e-13
HCC	exon_skip_158150	rs10940957	chr5:31571204	3.154076e-09	8.517128e-07
HCC	exon_skip_158150	rs12658729	chr5:31553861	2.694670e-08	6.057940e-06
HCC	exon_skip_158150	rs1382882	chr5:31523490	3.112405e-07	5.631696e-05
HCC	exon_skip_158150	rs7719497	chr5:31520602	3.653379e-07	6.512315e-05
HCC	exon_skip_158150	rs3828635	chr5:31453075	7.167190e-06	9.410455e-04
HCC	exon_skip_158150	rs3828634	chr5:31461095	9.477695e-06	1.193827e-03
HCC	exon_skip_158150	rs1564381	chr5:31509716	1.084456e-05	1.347287e-03
HCC	exon_skip_158150	rs17409624	chr5:31528626	1.276370e-05	1.555569e-03
HCC	exon_skip_204435	rs17409588	chr5:31528520	1.124855e-04	1.010791e-02
HCC	exon_skip_204435	rs13183642	chr5:31510999	1.582929e-04	1.340763e-02
HCC	exon_skip_204435	rs1382882	chr5:31523490	1.674131e-04	1.405208e-02
HCC	exon_skip_40876	rs7719497	chr5:31520602	1.759699e-04	1.463159e-02
HCC	exon_skip_158150	rs492176	chr5:31452827	1.770560e-04	1.469233e-02
HCC	exon_skip_158150	rs573156	chr5:31453742	1.770560e-04	1.469233e-02
HCC	exon_skip_40876	rs1382882	chr5:31523490	1.844586e-04	1.519134e-02
HCC	exon_skip_204435	rs7719497	chr5:31520602	1.871369e-04	1.536767e-02
HCC	exon_skip_158150	rs4867069	chr5:31498454	2.268578e-04	1.799372e-02
HCC	exon_skip_158150	rs4867068	chr5:31498274	2.639681e-04	2.032167e-02
HCC	exon_skip_158150	rs12054678	chr5:31571522	3.395247e-04	2.496017e-02
HCC	exon_skip_204435	rs4867068	chr5:31498274	4.193260e-04	2.945197e-02
HCC	exon_skip_204435	rs10461898	chr5:31520127	5.458105e-04	3.635207e-02
HCC	exon_skip_158150	rs10461898	chr5:31520127	6.164975e-04	3.994735e-02
HCC	exon_skip_158150	rs6891910	chr5:31589373	6.483034e-04	4.159870e-02
HCC	exon_skip_204435	rs492176	chr5:31452827	7.545087e-04	4.683668e-02
HCC	exon_skip_204435	rs573156	chr5:31453742	7.545087e-04	4.683668e-02
PCC	exon_skip_158150	rs17409588	chr5:31528520	7.364111e-10	5.714550e-07
PCC	exon_skip_158150	rs10940957	chr5:31571204	2.640656e-06	8.014448e-04
PCC	exon_skip_158150	rs12658729	chr5:31553861	4.144371e-06	1.184146e-03
PCC	exon_skip_268589	rs7719497	chr5:31520602	7.102813e-06	1.874176e-03
PCC	exon_skip_268589	rs1382882	chr5:31523490	1.505836e-05	3.625899e-03
PCC	exon_skip_158150	rs1382882	chr5:31523490	6.916370e-05	1.309049e-02
PCC	exon_skip_158150	rs7719497	chr5:31520602	8.193492e-05	1.466240e-02
PCC	exon_skip_158150	rs6891910	chr5:31589373	1.172817e-04	1.947698e-02

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Correlation with RNA binding proteins (RBPs) for DROSHA

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	ZNF638	exon_skip_89378	-4.748349e-01	8.800089e-09
CB	DAZAP1	exon_skip_211187	-4.543716e-01	5.863177e-09
CB	CNOT4	exon_skip_211187	-4.961606e-01	1.238161e-10
CB	RBM3	exon_skip_211187	4.215064e-01	8.632457e-08
CB	NUP42	exon_skip_211187	4.786913e-01	6.616900e-10
HCC	MSI1	exon_skip_211187	-4.035542e-01	1.590947e-11
HCC	RBM3	exon_skip_211187	4.011801e-01	2.142022e-11
PCC	RBM3	exon_skip_211187	4.154561e-01	2.281620e-09
TC	RBM3	exon_skip_261275	4.905702e-01	3.758801e-10
TC	NUP42	exon_skip_261275	5.537709e-01	5.025852e-13
TC	NOVA1	exon_skip_261275	4.814107e-01	8.805538e-10
TC	RBM3	exon_skip_291262	4.022072e-01	8.360352e-06

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RelatedDrugs for DROSHA

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 DROSHA

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 DROSHA

Gene structures and expression levels for DROSHA

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

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

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

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

SNVs in the skipped exons for DROSHA

AD stage-associated exon skippint events for DROSHA

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

Correlation with RNA binding proteins (RBPs) for DROSHA

RelatedDrugs for DROSHA

RelatedDiseases for DROSHA