ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for MEGF10

Gene summary

Gene information	Gene symbol	MEGF10
	Gene ID	84466
	Gene name	multiple EGF like domains 10
	Synonyms	EMARDD\|SR-F3
	Cytomap	5q23.2
	Type of gene	protein-coding
	Description	multiple epidermal growth factor-like domains protein 10
	Modification date	20200313
	UniProtAcc	Q96KG7,
	Context	- 20828568(MEGF10 functions as a receptor for the uptake of amyloid-beta)

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

Gene	GO ID	GO term	PubMed ID
MEGF10	GO:0034109	homotypic cell-cell adhesion	22407321

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Gene structures and expression levels for MEGF10

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.

ENSG00000145794

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 MEGF10

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_159199	chr5	127290859:127291056:127299996:127300046:127331291:127331404	127299996:127300046
exon_skip_233373	chr5	127422692:127422772:127433363:127433509:127434687:127434821	127433363:127433509
exon_skip_235409	chr5	127340530:127340630:127369910:127370002:127396532:127396778	127369910:127370002
exon_skip_242421	chr5	127419120:127419240:127420044:127420207:127422670:127422772	127420044:127420207
exon_skip_266590	chr5	127290859:127291056:127299996:127300046:127331291:127331424	127299996:127300046

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 MEGF10

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
ENST00000274473	127299996	127300046	5UTR-5UTR
ENST00000274473	127369910	127370002	In-frame
ENST00000503335	127369910	127370002	In-frame
ENST00000274473	127433363	127433509	In-frame
ENST00000503335	127433363	127433509	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
ENST00000274473	127299996	127300046	5UTR-5UTR
ENST00000274473	127369910	127370002	In-frame
ENST00000503335	127369910	127370002	In-frame
ENST00000274473	127433363	127433509	In-frame
ENST00000503335	127433363	127433509	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
ENST00000274473	127299996	127300046	5UTR-5UTR
ENST00000274473	127420044	127420207	Frame-shift
ENST00000503335	127420044	127420207	Frame-shift
ENST00000274473	127369910	127370002	In-frame
ENST00000503335	127369910	127370002	In-frame
ENST00000274473	127433363	127433509	In-frame
ENST00000503335	127433363	127433509	In-frame

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Infer the effects of exon skipping event on protein functional features for MEGF10

p-ENSG00000145794_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
ENST00000274473	7611	1140	127369910	127370002	588	679	107	137
ENST00000503335	7588	1140	127369910	127370002	565	656	107	137
ENST00000274473	7611	1140	127433363	127433509	1962	2107	565	613
ENST00000503335	7588	1140	127433363	127433509	1939	2084	565	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
ENST00000274473	7611	1140	127369910	127370002	588	679	107	137
ENST00000503335	7588	1140	127369910	127370002	565	656	107	137
ENST00000274473	7611	1140	127433363	127433509	1962	2107	565	613
ENST00000503335	7588	1140	127433363	127433509	1939	2084	565	613

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
ENST00000274473	7611	1140	127369910	127370002	588	679	107	137
ENST00000503335	7588	1140	127369910	127370002	565	656	107	137
ENST00000274473	7611	1140	127433363	127433509	1962	2107	565	613
ENST00000503335	7588	1140	127433363	127433509	1939	2084	565	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
Q96KG7	107	137	26	1140	Chain	ID=PRO_0000309732;Note=Multiple epidermal growth factor-like domains protein 10
Q96KG7	107	137	26	1140	Chain	ID=PRO_0000309732;Note=Multiple epidermal growth factor-like domains protein 10
Q96KG7	107	137	109	118	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	107	137	109	118	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	107	137	113	124	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	107	137	113	124	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	107	137	126	135	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	107	137	126	135	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	107	137	30	107	Domain	Note=EMI;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00384
Q96KG7	107	137	30	107	Domain	Note=EMI;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00384
Q96KG7	107	137	106	136	Domain	Note=EGF-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q96KG7	107	137	106	136	Domain	Note=EGF-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q96KG7	107	137	134	134	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96KG7	107	137	134	134	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96KG7	107	137	1	857	Region	Note=Necessary for interaction with AP2M1%2C self-assembly and formation of the irregular%2C mosaic-like adhesion pattern;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17643423;Dbxref=PMID:17643423
Q96KG7	107	137	1	857	Region	Note=Necessary for interaction with AP2M1%2C self-assembly and formation of the irregular%2C mosaic-like adhesion pattern;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17643423;Dbxref=PMID:17643423
Q96KG7	107	137	26	857	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96KG7	107	137	26	857	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96KG7	565	613	566	567	Alternative sequence	ID=VSP_029244;Note=In isoform 2. VH->LF;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96KG7	565	613	566	567	Alternative sequence	ID=VSP_029244;Note=In isoform 2. VH->LF;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96KG7	565	613	568	1140	Alternative sequence	ID=VSP_029245;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96KG7	565	613	568	1140	Alternative sequence	ID=VSP_029245;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96KG7	565	613	26	1140	Chain	ID=PRO_0000309732;Note=Multiple epidermal growth factor-like domains protein 10
Q96KG7	565	613	26	1140	Chain	ID=PRO_0000309732;Note=Multiple epidermal growth factor-like domains protein 10
Q96KG7	565	613	559	568	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	559	568	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	581	593	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	581	593	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	587	600	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	587	600	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	602	611	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	602	611	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	539	569	Domain	Note=EGF-like 10;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q96KG7	565	613	539	569	Domain	Note=EGF-like 10;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q96KG7	565	613	577	612	Domain	Note=EGF-like 11;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q96KG7	565	613	577	612	Domain	Note=EGF-like 11;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q96KG7	565	613	1	857	Region	Note=Necessary for interaction with AP2M1%2C self-assembly and formation of the irregular%2C mosaic-like adhesion pattern;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17643423;Dbxref=PMID:17643423
Q96KG7	565	613	1	857	Region	Note=Necessary for interaction with AP2M1%2C self-assembly and formation of the irregular%2C mosaic-like adhesion pattern;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17643423;Dbxref=PMID:17643423
Q96KG7	565	613	26	857	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96KG7	565	613	26	857	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q96KG7	107	137	26	1140	Chain	ID=PRO_0000309732;Note=Multiple epidermal growth factor-like domains protein 10
Q96KG7	107	137	26	1140	Chain	ID=PRO_0000309732;Note=Multiple epidermal growth factor-like domains protein 10
Q96KG7	107	137	109	118	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	107	137	109	118	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	107	137	113	124	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	107	137	113	124	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	107	137	126	135	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	107	137	126	135	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	107	137	30	107	Domain	Note=EMI;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00384
Q96KG7	107	137	30	107	Domain	Note=EMI;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00384
Q96KG7	107	137	106	136	Domain	Note=EGF-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q96KG7	107	137	106	136	Domain	Note=EGF-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q96KG7	107	137	134	134	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96KG7	107	137	134	134	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96KG7	107	137	1	857	Region	Note=Necessary for interaction with AP2M1%2C self-assembly and formation of the irregular%2C mosaic-like adhesion pattern;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17643423;Dbxref=PMID:17643423
Q96KG7	107	137	1	857	Region	Note=Necessary for interaction with AP2M1%2C self-assembly and formation of the irregular%2C mosaic-like adhesion pattern;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17643423;Dbxref=PMID:17643423
Q96KG7	107	137	26	857	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96KG7	107	137	26	857	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96KG7	565	613	566	567	Alternative sequence	ID=VSP_029244;Note=In isoform 2. VH->LF;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96KG7	565	613	566	567	Alternative sequence	ID=VSP_029244;Note=In isoform 2. VH->LF;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96KG7	565	613	568	1140	Alternative sequence	ID=VSP_029245;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96KG7	565	613	568	1140	Alternative sequence	ID=VSP_029245;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96KG7	565	613	26	1140	Chain	ID=PRO_0000309732;Note=Multiple epidermal growth factor-like domains protein 10
Q96KG7	565	613	26	1140	Chain	ID=PRO_0000309732;Note=Multiple epidermal growth factor-like domains protein 10
Q96KG7	565	613	559	568	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	559	568	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	581	593	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	581	593	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	587	600	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	587	600	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	602	611	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	602	611	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	539	569	Domain	Note=EGF-like 10;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q96KG7	565	613	539	569	Domain	Note=EGF-like 10;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q96KG7	565	613	577	612	Domain	Note=EGF-like 11;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q96KG7	565	613	577	612	Domain	Note=EGF-like 11;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q96KG7	565	613	1	857	Region	Note=Necessary for interaction with AP2M1%2C self-assembly and formation of the irregular%2C mosaic-like adhesion pattern;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17643423;Dbxref=PMID:17643423
Q96KG7	565	613	1	857	Region	Note=Necessary for interaction with AP2M1%2C self-assembly and formation of the irregular%2C mosaic-like adhesion pattern;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17643423;Dbxref=PMID:17643423
Q96KG7	565	613	26	857	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96KG7	565	613	26	857	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q96KG7	107	137	26	1140	Chain	ID=PRO_0000309732;Note=Multiple epidermal growth factor-like domains protein 10
Q96KG7	107	137	26	1140	Chain	ID=PRO_0000309732;Note=Multiple epidermal growth factor-like domains protein 10
Q96KG7	107	137	109	118	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	107	137	109	118	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	107	137	113	124	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	107	137	113	124	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	107	137	126	135	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	107	137	126	135	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	107	137	30	107	Domain	Note=EMI;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00384
Q96KG7	107	137	30	107	Domain	Note=EMI;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00384
Q96KG7	107	137	106	136	Domain	Note=EGF-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q96KG7	107	137	106	136	Domain	Note=EGF-like 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q96KG7	107	137	134	134	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96KG7	107	137	134	134	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96KG7	107	137	1	857	Region	Note=Necessary for interaction with AP2M1%2C self-assembly and formation of the irregular%2C mosaic-like adhesion pattern;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17643423;Dbxref=PMID:17643423
Q96KG7	107	137	1	857	Region	Note=Necessary for interaction with AP2M1%2C self-assembly and formation of the irregular%2C mosaic-like adhesion pattern;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17643423;Dbxref=PMID:17643423
Q96KG7	107	137	26	857	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96KG7	107	137	26	857	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96KG7	565	613	566	567	Alternative sequence	ID=VSP_029244;Note=In isoform 2. VH->LF;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96KG7	565	613	566	567	Alternative sequence	ID=VSP_029244;Note=In isoform 2. VH->LF;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96KG7	565	613	568	1140	Alternative sequence	ID=VSP_029245;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96KG7	565	613	568	1140	Alternative sequence	ID=VSP_029245;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
Q96KG7	565	613	26	1140	Chain	ID=PRO_0000309732;Note=Multiple epidermal growth factor-like domains protein 10
Q96KG7	565	613	26	1140	Chain	ID=PRO_0000309732;Note=Multiple epidermal growth factor-like domains protein 10
Q96KG7	565	613	559	568	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	559	568	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	581	593	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	581	593	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	587	600	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	587	600	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	602	611	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	602	611	Disulfide bond	Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96KG7	565	613	539	569	Domain	Note=EGF-like 10;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q96KG7	565	613	539	569	Domain	Note=EGF-like 10;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q96KG7	565	613	577	612	Domain	Note=EGF-like 11;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q96KG7	565	613	577	612	Domain	Note=EGF-like 11;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00076
Q96KG7	565	613	1	857	Region	Note=Necessary for interaction with AP2M1%2C self-assembly and formation of the irregular%2C mosaic-like adhesion pattern;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17643423;Dbxref=PMID:17643423
Q96KG7	565	613	1	857	Region	Note=Necessary for interaction with AP2M1%2C self-assembly and formation of the irregular%2C mosaic-like adhesion pattern;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17643423;Dbxref=PMID:17643423
Q96KG7	565	613	26	857	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96KG7	565	613	26	857	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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3'-UTR located exon skipping events that lost miRNA binding sites in MEGF10

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 MEGF10

- 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 MEGF10

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 MEGF10

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
TC	exon_skip_159199	rs2546082	chr5:127305962	2.575989e-05	5.403726e-03
TC	exon_skip_159199	rs1345663	chr5:127314490	2.575989e-05	5.403726e-03
TC	exon_skip_159199	rs2585196	chr5:127298266	2.769420e-05	5.713368e-03
TC	exon_skip_159199	rs246887	chr5:127320057	7.473499e-05	1.294200e-02
TC	exon_skip_159199	rs246888	chr5:127321306	1.739756e-04	2.527829e-02
HCC	exon_skip_266590	rs970546	chr5:127297744	2.318887e-11	9.047773e-09
HCC	exon_skip_266590	rs2585196	chr5:127298266	1.252751e-10	4.301216e-08
HCC	exon_skip_266590	rs2585192	chr5:127306456	1.384556e-10	4.727565e-08
HCC	exon_skip_266590	rs2546085	chr5:127307228	1.384556e-10	4.727565e-08
HCC	exon_skip_266590	rs1345663	chr5:127314490	1.630057e-10	5.495184e-08
HCC	exon_skip_266590	rs2546082	chr5:127305962	2.388127e-10	7.893324e-08
HCC	exon_skip_266590	rs2408864	chr5:127226084	5.682276e-07	9.877942e-05
HCC	exon_skip_266590	rs246888	chr5:127321306	1.253934e-06	1.997693e-04
HCC	exon_skip_266590	rs246887	chr5:127320057	1.438954e-06	2.256681e-04
HCC	exon_skip_266590	rs152120	chr5:127320808	1.447187e-06	2.266725e-04
HCC	exon_skip_266590	rs27652	chr5:127348191	1.143195e-05	1.412320e-03
HCC	exon_skip_266590	rs185033	chr5:127352825	1.212483e-05	1.485987e-03
HCC	exon_skip_266590	rs4836316	chr5:127292183	3.351769e-05	3.595841e-03
HCC	exon_skip_266590	rs4836317	chr5:127293079	3.783142e-05	3.974908e-03
HCC	exon_skip_266590	rs27388	chr5:127348117	5.725602e-05	5.672801e-03
HCC	exon_skip_266590	rs10478764	chr5:127256409	1.290660e-04	1.134825e-02
HCC	exon_skip_266590	rs187514	chr5:127347724	2.038202e-04	1.644711e-02
HCC	exon_skip_266590	rs6892256	chr5:127210519	3.411121e-04	2.505210e-02
HCC	exon_skip_266590	rs2408867	chr5:127233609	4.904505e-04	3.338862e-02
HCC	exon_skip_266590	rs2194079	chr5:127292406	7.547497e-04	4.683668e-02
PCC	exon_skip_266590	rs970546	chr5:127297744	1.704827e-08	9.558226e-06
PCC	exon_skip_266590	rs2585196	chr5:127298266	9.237514e-08	4.448599e-05
PCC	exon_skip_266590	rs1345663	chr5:127314490	1.289739e-07	5.859786e-05
PCC	exon_skip_266590	rs2585192	chr5:127306456	2.135807e-07	9.070272e-05
PCC	exon_skip_266590	rs2546085	chr5:127307228	2.135807e-07	9.070272e-05
PCC	exon_skip_266590	rs2546082	chr5:127305962	3.626248e-07	1.433232e-04
PCC	exon_skip_266590	rs2408864	chr5:127226084	2.619884e-04	3.701006e-02

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Correlation with RNA binding proteins (RBPs) for MEGF10

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for MEGF10

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 MEGF10

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 MEGF10

Gene structures and expression levels for MEGF10

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MEGF10

Open reading frame (ORF) annotation in the exon skipping event for MEGF10

Infer the effects of exon skipping event on protein functional features for MEGF10

3'-UTR located exon skipping events that lost miRNA binding sites in MEGF10

SNVs in the skipped exons for MEGF10

AD stage-associated exon skippint events for MEGF10

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MEGF10

Correlation with RNA binding proteins (RBPs) for MEGF10

RelatedDrugs for MEGF10

RelatedDiseases for MEGF10