ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for MRO

Gene summary

Gene information	Gene symbol	MRO
	Gene ID	83876
	Gene name	maestro
	Synonyms	B29\|C18orf3
	Cytomap	18q21.2
	Type of gene	protein-coding
	Description	protein maestrobeside the Ma29 deletionmale-specific transcription in the developing reproductive organs
	Modification date	20200313
	UniProtAcc	A0A024R2B7, K7EKU2, K7ELT8, K7EPK7, Q9BYG7,
	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 MRO

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.

ENSG00000134042

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	ENST00000436348.6	MRO-205:protein_coding:MRO	1.628272e+00	1.532004e+00	5.873791e-03	2.248237e-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 MRO

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_102002	chr18	50805154:50805336:50806704:50806786:50809302:50809404	50806704:50806786
exon_skip_117269	chr18	50805210:50805336:50806704:50806850:50819581:50819626	50806704:50806850
exon_skip_124581	chr18	50805154:50805336:50806704:50806850:50809302:50809404	50806704:50806850
exon_skip_130096	chr18	50806704:50806850:50819581:50819702:50819897:50820013	50819581:50819702
exon_skip_132640	chr18	50800047:50800143:50801349:50801504:50805154:50805336	50801349:50801504
exon_skip_197358	chr18	50801349:50801504:50805154:50805336:50806704:50806786	50805154:50805336
exon_skip_21119	chr18	50809302:50809404:50816124:50816162:50819581:50819626	50816124:50816162
exon_skip_235181	chr18	50800047:50800143:50805154:50805336:50806704:50806786	50805154:50805336
exon_skip_287410	chr18	50809302:50809404:50819581:50819702:50819897:50820013	50819581:50819702
exon_skip_64377	chr18	50799150:50799390:50800036:50800143:50805154:50805336	50800036:50800143
exon_skip_6478	chr18	50806704:50806850:50809302:50809404:50819581:50819626	50809302:50809404
exon_skip_72661	chr18	50805154:50805336:50806704:50806850:50819581:50819626	50806704:50806850
exon_skip_88433	chr18	50809302:50809404:50816124:50816162:50819581:50819702	50816124:50816162

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 MRO

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
ENST00000256425	50809302	50809404	3UTR-3CDS
ENST00000398439	50809302	50809404	3UTR-3CDS
ENST00000610511	50809302	50809404	3UTR-3CDS
ENST00000428869	50816124	50816162	3UTR-3UTR
ENST00000398439	50819581	50819702	3UTR-3UTR
ENST00000610511	50819581	50819702	3UTR-3UTR
ENST00000256425	50801349	50801504	In-frame
ENST00000398439	50801349	50801504	In-frame
ENST00000428869	50801349	50801504	In-frame
ENST00000610511	50801349	50801504	In-frame
ENST00000256425	50805154	50805336	In-frame
ENST00000398439	50805154	50805336	In-frame
ENST00000428869	50805154	50805336	In-frame
ENST00000610511	50805154	50805336	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
ENST00000256425	50809302	50809404	3UTR-3CDS
ENST00000398439	50809302	50809404	3UTR-3CDS
ENST00000610511	50809302	50809404	3UTR-3CDS
ENST00000428869	50816124	50816162	3UTR-3UTR
ENST00000398439	50819581	50819702	3UTR-3UTR
ENST00000610511	50819581	50819702	3UTR-3UTR
ENST00000256425	50801349	50801504	In-frame
ENST00000398439	50801349	50801504	In-frame
ENST00000428869	50801349	50801504	In-frame
ENST00000610511	50801349	50801504	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
ENST00000256425	50809302	50809404	3UTR-3CDS
ENST00000398439	50809302	50809404	3UTR-3CDS
ENST00000610511	50809302	50809404	3UTR-3CDS
ENST00000428869	50816124	50816162	3UTR-3UTR
ENST00000398439	50819581	50819702	3UTR-3UTR
ENST00000610511	50819581	50819702	3UTR-3UTR
ENST00000256425	50801349	50801504	In-frame
ENST00000398439	50801349	50801504	In-frame
ENST00000428869	50801349	50801504	In-frame
ENST00000610511	50801349	50801504	In-frame
ENST00000256425	50805154	50805336	In-frame
ENST00000398439	50805154	50805336	In-frame
ENST00000428869	50805154	50805336	In-frame
ENST00000610511	50805154	50805336	In-frame
ENST00000256425	50806704	50806850	In-frame
ENST00000398439	50806704	50806850	In-frame
ENST00000428869	50806704	50806850	In-frame
ENST00000610511	50806704	50806850	In-frame

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

p-ENSG00000134042_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
ENST00000256425	5183	248	50805154	50805336	449	630	82	142
ENST00000398439	968	248	50805154	50805336	405	586	82	142
ENST00000428869	1983	248	50805154	50805336	506	687	82	142
ENST00000610511	5274	248	50805154	50805336	541	722	82	142
ENST00000256425	5183	248	50801349	50801504	632	786	143	194
ENST00000398439	968	248	50801349	50801504	588	742	143	194
ENST00000428869	1983	248	50801349	50801504	689	843	143	194
ENST00000610511	5274	248	50801349	50801504	724	878	143	194

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
ENST00000256425	5183	248	50801349	50801504	632	786	143	194
ENST00000398439	968	248	50801349	50801504	588	742	143	194
ENST00000428869	1983	248	50801349	50801504	689	843	143	194
ENST00000610511	5274	248	50801349	50801504	724	878	143	194

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
ENST00000256425	5183	248	50806704	50806850	302	447	33	81
ENST00000398439	968	248	50806704	50806850	258	403	33	81
ENST00000428869	1983	248	50806704	50806850	359	504	33	81
ENST00000610511	5274	248	50806704	50806850	394	539	33	81
ENST00000256425	5183	248	50805154	50805336	449	630	82	142
ENST00000398439	968	248	50805154	50805336	405	586	82	142
ENST00000428869	1983	248	50805154	50805336	506	687	82	142
ENST00000610511	5274	248	50805154	50805336	541	722	82	142
ENST00000256425	5183	248	50801349	50801504	632	786	143	194
ENST00000398439	968	248	50801349	50801504	588	742	143	194
ENST00000428869	1983	248	50801349	50801504	689	843	143	194
ENST00000610511	5274	248	50801349	50801504	724	878	143	194

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
Q9BYG7	82	142	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	82	142	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	82	142	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	82	142	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	82	142	134	134	Natural variant	ID=VAR_027262;Note=T->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11401430,ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs2849233,PMID:11401430,PMID:14702039,PMID:15489334
Q9BYG7	82	142	134	134	Natural variant	ID=VAR_027262;Note=T->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11401430,ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs2849233,PMID:11401430,PMID:14702039,PMID:15489334
Q9BYG7	82	142	134	134	Natural variant	ID=VAR_027262;Note=T->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11401430,ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs2849233,PMID:11401430,PMID:14702039,PMID:15489334
Q9BYG7	82	142	134	134	Natural variant	ID=VAR_027262;Note=T->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11401430,ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs2849233,PMID:11401430,PMID:14702039,PMID:15489334
Q9BYG7	82	142	128	163	Repeat	Note=HEAT
Q9BYG7	82	142	128	163	Repeat	Note=HEAT
Q9BYG7	82	142	128	163	Repeat	Note=HEAT
Q9BYG7	82	142	128	163	Repeat	Note=HEAT
Q9BYG7	143	194	144	195	Alternative sequence	ID=VSP_045712;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BYG7	143	194	144	195	Alternative sequence	ID=VSP_045712;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BYG7	143	194	144	195	Alternative sequence	ID=VSP_045712;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BYG7	143	194	144	195	Alternative sequence	ID=VSP_045712;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BYG7	143	194	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	143	194	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	143	194	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	143	194	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	143	194	128	163	Repeat	Note=HEAT
Q9BYG7	143	194	128	163	Repeat	Note=HEAT
Q9BYG7	143	194	128	163	Repeat	Note=HEAT
Q9BYG7	143	194	128	163	Repeat	Note=HEAT

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
Q9BYG7	143	194	144	195	Alternative sequence	ID=VSP_045712;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BYG7	143	194	144	195	Alternative sequence	ID=VSP_045712;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BYG7	143	194	144	195	Alternative sequence	ID=VSP_045712;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BYG7	143	194	144	195	Alternative sequence	ID=VSP_045712;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BYG7	143	194	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	143	194	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	143	194	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	143	194	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	143	194	128	163	Repeat	Note=HEAT
Q9BYG7	143	194	128	163	Repeat	Note=HEAT
Q9BYG7	143	194	128	163	Repeat	Note=HEAT
Q9BYG7	143	194	128	163	Repeat	Note=HEAT

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
Q9BYG7	33	81	1	33	Alternative sequence	ID=VSP_045711;Note=In isoform 2 and isoform 5. MDQRQRRILGQPLSIPTSQPKQKRTSMISFFSK->MAWGSKGIQGWENLAESSHLATTRESSPPESGTGSGSSRGSRLQEPQ;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BYG7	33	81	1	33	Alternative sequence	ID=VSP_045711;Note=In isoform 2 and isoform 5. MDQRQRRILGQPLSIPTSQPKQKRTSMISFFSK->MAWGSKGIQGWENLAESSHLATTRESSPPESGTGSGSSRGSRLQEPQ;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BYG7	33	81	1	33	Alternative sequence	ID=VSP_045711;Note=In isoform 2 and isoform 5. MDQRQRRILGQPLSIPTSQPKQKRTSMISFFSK->MAWGSKGIQGWENLAESSHLATTRESSPPESGTGSGSSRGSRLQEPQ;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BYG7	33	81	1	33	Alternative sequence	ID=VSP_045711;Note=In isoform 2 and isoform 5. MDQRQRRILGQPLSIPTSQPKQKRTSMISFFSK->MAWGSKGIQGWENLAESSHLATTRESSPPESGTGSGSSRGSRLQEPQ;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BYG7	33	81	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	33	81	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	33	81	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	33	81	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	33	81	39	39	Natural variant	ID=VAR_027261;Note=R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14702039;Dbxref=dbSNP:rs4940019,PMID:14702039
Q9BYG7	33	81	39	39	Natural variant	ID=VAR_027261;Note=R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14702039;Dbxref=dbSNP:rs4940019,PMID:14702039
Q9BYG7	33	81	39	39	Natural variant	ID=VAR_027261;Note=R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14702039;Dbxref=dbSNP:rs4940019,PMID:14702039
Q9BYG7	33	81	39	39	Natural variant	ID=VAR_027261;Note=R->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14702039;Dbxref=dbSNP:rs4940019,PMID:14702039
Q9BYG7	82	142	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	82	142	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	82	142	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	82	142	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	82	142	134	134	Natural variant	ID=VAR_027262;Note=T->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11401430,ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs2849233,PMID:11401430,PMID:14702039,PMID:15489334
Q9BYG7	82	142	134	134	Natural variant	ID=VAR_027262;Note=T->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11401430,ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs2849233,PMID:11401430,PMID:14702039,PMID:15489334
Q9BYG7	82	142	134	134	Natural variant	ID=VAR_027262;Note=T->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11401430,ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs2849233,PMID:11401430,PMID:14702039,PMID:15489334
Q9BYG7	82	142	134	134	Natural variant	ID=VAR_027262;Note=T->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11401430,ECO:0000269\|PubMed:14702039,ECO:0000269\|PubMed:15489334;Dbxref=dbSNP:rs2849233,PMID:11401430,PMID:14702039,PMID:15489334
Q9BYG7	82	142	128	163	Repeat	Note=HEAT
Q9BYG7	82	142	128	163	Repeat	Note=HEAT
Q9BYG7	82	142	128	163	Repeat	Note=HEAT
Q9BYG7	82	142	128	163	Repeat	Note=HEAT
Q9BYG7	143	194	144	195	Alternative sequence	ID=VSP_045712;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BYG7	143	194	144	195	Alternative sequence	ID=VSP_045712;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BYG7	143	194	144	195	Alternative sequence	ID=VSP_045712;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BYG7	143	194	144	195	Alternative sequence	ID=VSP_045712;Note=In isoform 2 and isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q9BYG7	143	194	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	143	194	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	143	194	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	143	194	1	248	Chain	ID=PRO_0000248197;Note=Protein maestro
Q9BYG7	143	194	128	163	Repeat	Note=HEAT
Q9BYG7	143	194	128	163	Repeat	Note=HEAT
Q9BYG7	143	194	128	163	Repeat	Note=HEAT
Q9BYG7	143	194	128	163	Repeat	Note=HEAT

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

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
Mayo	ENST00000428869	50816124	50816162	hsa-miR-5700	chr18:50816143-50816150	8mer-1a	chr18:50816138-50816161	145.00	-14.96
Mayo	ENST00000610511	50819581	50819702	hsa-miR-3127-5p	chr18:50819692-50819699	8mer-1a	chr18:50819677-50819699	161.00	-20.67
Mayo	ENST00000610511	50819581	50819702	hsa-miR-671-3p	chr18:50819612-50819619	8mer-1a	chr18:50819598-50819619	148.00	-24.79
Mayo	ENST00000610511	50819581	50819702	hsa-miR-873-5p	chr18:50819624-50819631	8mer-1a	chr18:50819614-50819635	152.00	-18.76
MSBB	ENST00000428869	50816124	50816162	hsa-miR-5700	chr18:50816143-50816150	8mer-1a	chr18:50816138-50816161	145.00	-14.96
MSBB	ENST00000610511	50819581	50819702	hsa-miR-3127-5p	chr18:50819692-50819699	8mer-1a	chr18:50819677-50819699	161.00	-20.67
MSBB	ENST00000610511	50819581	50819702	hsa-miR-671-3p	chr18:50819612-50819619	8mer-1a	chr18:50819598-50819619	148.00	-24.79
MSBB	ENST00000610511	50819581	50819702	hsa-miR-873-5p	chr18:50819624-50819631	8mer-1a	chr18:50819614-50819635	152.00	-18.76
ROSMAP	ENST00000428869	50816124	50816162	hsa-miR-5700	chr18:50816143-50816150	8mer-1a	chr18:50816138-50816161	145.00	-14.96
ROSMAP	ENST00000610511	50819581	50819702	hsa-miR-3127-5p	chr18:50819692-50819699	8mer-1a	chr18:50819677-50819699	161.00	-20.67
ROSMAP	ENST00000610511	50819581	50819702	hsa-miR-671-3p	chr18:50819612-50819619	8mer-1a	chr18:50819598-50819619	148.00	-24.79
ROSMAP	ENST00000610511	50819581	50819702	hsa-miR-873-5p	chr18:50819624-50819631	8mer-1a	chr18:50819614-50819635	152.00	-18.76

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SNVs in the skipped exons for MRO

- 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 MRO

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 MRO

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
CB	exon_skip_132640	rs1966779	chr18:50746815	4.023740e-07	1.638358e-04
CB	exon_skip_132640	rs2847547	chr18:50775083	3.944027e-06	1.162846e-03
CB	exon_skip_132640	rs11873058	chr18:50798517	2.550711e-05	5.655100e-03
TC	exon_skip_287410	rs3813089	chr18:50819654	3.786851e-15	9.443175e-12
TC	exon_skip_132640	rs1966779	chr18:50746815	8.628269e-08	3.868063e-05
TC	exon_skip_287410	rs9962583	chr18:50823946	6.500376e-07	2.299266e-04
TC	exon_skip_6478	rs41353448	chr18:50823969	1.068368e-05	2.623657e-03
TC	exon_skip_132640	rs2847547	chr18:50775083	1.371027e-05	3.225374e-03
TC	exon_skip_6478	rs9948718	chr18:50737061	2.191714e-05	4.762832e-03
TC	exon_skip_6478	rs1975479	chr18:50740923	1.974596e-04	2.795741e-02
HCC	exon_skip_287410	rs3813089	chr18:50819654	4.861492e-27	1.705370e-23
HCC	exon_skip_6478	rs41353448	chr18:50823969	4.649500e-17	4.300660e-14
HCC	exon_skip_6478	rs12326757	chr18:50827174	7.198709e-17	6.450026e-14
HCC	exon_skip_6478	rs17663432	chr18:50828464	7.198709e-17	6.450026e-14
HCC	exon_skip_287410	rs9951579	chr18:50825584	1.397188e-12	6.669178e-10
HCC	exon_skip_287410	rs9962583	chr18:50823946	1.350892e-10	4.629625e-08
HCC	exon_skip_287410	rs8084960	chr18:50818731	5.753026e-10	1.794630e-07
HCC	exon_skip_132640	rs2586779	chr18:50796033	1.325137e-08	3.178953e-06
HCC	exon_skip_6478	rs9962583	chr18:50823946	9.613490e-08	1.937491e-05
HCC	exon_skip_132640	rs2847541	chr18:50794644	2.603432e-07	4.806642e-05
HCC	exon_skip_132640	rs2847547	chr18:50775083	5.575192e-07	9.705403e-05
HCC	exon_skip_132640	rs17663205	chr18:50798114	8.572664e-07	1.418625e-04
HCC	exon_skip_6478	rs12455429	chr18:50808371	1.984854e-06	3.027260e-04
HCC	exon_skip_6478	rs7230138	chr18:50819281	2.650273e-06	3.934031e-04
HCC	exon_skip_132640	rs9676032	chr18:50771080	4.145702e-06	5.806153e-04
HCC	exon_skip_132640	rs1966779	chr18:50746815	4.928487e-06	6.752409e-04
HCC	exon_skip_132640	rs2849249	chr18:50783781	1.016007e-05	1.270313e-03
HCC	exon_skip_132640	rs1822458	chr18:50748035	1.658007e-05	1.960915e-03
HCC	exon_skip_132640	rs1470325	chr18:50746921	2.600193e-05	2.889580e-03
HCC	exon_skip_6478	rs7238284	chr18:50847506	1.088858e-04	9.817646e-03
HCC	exon_skip_6478	rs2847577	chr18:50838449	1.185416e-04	1.060852e-02
HCC	exon_skip_6478	rs16952611	chr18:50856298	1.548192e-04	1.317643e-02
HCC	exon_skip_132640	rs3794897	chr18:50717391	5.104295e-04	3.449611e-02
PCC	exon_skip_287410	rs3813089	chr18:50819654	1.748499e-10	1.662974e-07
PCC	exon_skip_6478	rs12326757	chr18:50827174	1.788092e-10	1.686537e-07
PCC	exon_skip_6478	rs17663432	chr18:50828464	1.788092e-10	1.686537e-07
PCC	exon_skip_6478	rs41353448	chr18:50823969	8.591066e-10	6.396621e-07
PCC	exon_skip_287410	rs11877439	chr18:50764959	5.337416e-07	1.976581e-04
PCC	exon_skip_287410	rs11873058	chr18:50798517	8.405786e-07	2.955790e-04
PCC	exon_skip_287410	rs9948718	chr18:50737061	2.238252e-06	6.916097e-04
PCC	exon_skip_287410	rs9951579	chr18:50825584	1.064865e-04	1.813405e-02
PCC	exon_skip_6478	rs2849249	chr18:50783781	1.165940e-04	1.938162e-02
PCC	exon_skip_132640	rs2586779	chr18:50796033	1.511883e-04	2.401012e-02
PCC	exon_skip_287410	rs9962583	chr18:50823946	1.518788e-04	2.410855e-02
PCC	exon_skip_132640	rs1966779	chr18:50746815	1.933119e-04	2.896201e-02
PCC	exon_skip_287410	rs8084960	chr18:50818731	2.578978e-04	3.650772e-02
PCC	exon_skip_6478	rs2847541	chr18:50794644	3.171726e-04	4.270324e-02
PCC	exon_skip_132640	rs1470325	chr18:50746921	3.713469e-04	4.813694e-02
DLPFC	exon_skip_6478	rs12326757	chr18:50827174	6.006608e-11	2.018837e-08
DLPFC	exon_skip_6478	rs17663432	chr18:50828464	6.006608e-11	2.018837e-08
DLPFC	exon_skip_6478	rs41353448	chr18:50823969	1.438399e-10	4.585391e-08
DLPFC	exon_skip_132640	rs2586779	chr18:50796033	1.197865e-07	2.198845e-05
DLPFC	exon_skip_132640	rs2847547	chr18:50775083	7.177087e-07	1.099892e-04
DLPFC	exon_skip_132640	rs1966779	chr18:50746815	3.031871e-06	3.897170e-04
DLPFC	exon_skip_6478	rs9962583	chr18:50823946	5.563224e-06	6.671196e-04
DLPFC	exon_skip_132640	rs1470325	chr18:50746921	6.792899e-06	7.962851e-04
DLPFC	exon_skip_132640	rs17663205	chr18:50798114	1.360783e-05	1.472210e-03
DLPFC	exon_skip_132640	rs1822458	chr18:50748035	1.676597e-05	1.771434e-03
DLPFC	exon_skip_132640	rs9676032	chr18:50771080	5.320760e-05	4.896650e-03
DLPFC	exon_skip_132640	rs2847541	chr18:50794644	8.463436e-05	7.310020e-03
DLPFC	exon_skip_6478	rs10502912	chr18:50742412	7.681426e-04	4.524430e-02
DLPFC	exon_skip_6478	rs12455429	chr18:50808371	7.886707e-04	4.607804e-02

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Correlation with RNA binding proteins (RBPs) for MRO

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	RBM3	exon_skip_132640	-4.332377e-01	1.111342e-07
CB	NUP42	exon_skip_132640	-4.910032e-01	9.706205e-10
IFG	RBM3	exon_skip_132640	-4.106954e-01	3.334008e-02
PCC	RBM3	exon_skip_132640	-4.349159e-01	3.790568e-11
STG	RBM3	exon_skip_132640	-4.366131e-01	7.194505e-05
TC	RBM3	exon_skip_132640	-4.946155e-01	3.963775e-11

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RelatedDrugs for MRO

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 MRO

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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