ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for ELMO1

Gene summary

Gene information	Gene symbol	ELMO1
	Gene ID	9844
	Gene name	engulfment and cell motility 1
	Synonyms	CED-12\|CED12\|ELMO-1
	Cytomap	7p14.2-p14.1
	Type of gene	protein-coding
	Description	engulfment and cell motility protein 1ced-12 homolog 1
	Modification date	20200313
	UniProtAcc	A4D1X5, C9IZR8, C9J5X3, C9JB20, C9JIW2, H7C0N5, H7C0S6, H7C3P3, Q92556,
	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 ELMO1

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.

ENSG00000155849

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
PCC	DOWN	ENST00000464262.6	ELMO1-214:lncRNA:ELMO1	1.622657e+01	-9.402529e-01	1.219722e-04	6.910805e-03
PG	UP	ENST00000487336.1	ELMO1-217:retained_intron:ELMO1	1.450817e+01	1.330133e+00	2.867415e-09	9.582926e-07
PG	DOWN	ENST00000464262.6	ELMO1-214:lncRNA:ELMO1	6.183976e+01	-9.829266e-01	1.107666e-07	1.646650e-05
PG	DOWN	ENST00000396040.6	ELMO1-202:protein_coding:ELMO1	9.343889e+01	-8.227668e-01	8.891039e-05	2.515916e-03

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 ELMO1

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_101709	chr7	37222615:37222693:37224879:37225030:37233095:37233194	37224879:37225030
exon_skip_131235	chr7	37013299:37013435:37033347:37033412:37096619:37096727	37033347:37033412
exon_skip_160140	chr7	37315920:37315960:37342613:37342763:37448675:37448856	37342613:37342763
exon_skip_177985	chr7	36870393:36870475:36878010:36878117:36894854:36895017	36878010:36878117
exon_skip_195639	chr7	36861659:36861736:36870393:36870475:36878010:36878117	36870393:36870475
exon_skip_207520	chr7	36861659:36861736:36870393:36870475:36878010:36878112	36870393:36870475
exon_skip_241232	chr7	37342613:37342763:37393822:37393917:37448675:37448856	37393822:37393917
exon_skip_249657	chr7	36870393:36870475:36878010:36878117:36887560:36887672	36878010:36878117
exon_skip_256498	chr7	37216645:37216695:37217712:37217756:37222615:37222688	37217712:37217756
exon_skip_264091	chr7	37096678:37096727:37133130:37133234:37211386:37211517	37133130:37133234
exon_skip_278659	chr7	37013299:37013435:37033347:37033412:37096619:37096667	37033347:37033412
exon_skip_29493	chr7	36878070:36878117:36887560:36887672:36894854:36895017	36887560:36887672
exon_skip_35895	chr7	37315920:37315960:37342613:37342763:37448860:37448950	37342613:37342763
exon_skip_56641	chr7	37259181:37259350:37271832:37271882:37314850:37314922	37271832:37271882
exon_skip_70592	chr7	37342613:37342763:37393822:37393917:37448860:37448950	37393822:37393917
exon_skip_74255	chr7	36878010:36878117:36887560:36887672:36894854:36895017	36887560:36887672

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 ELMO1

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
ENST00000310758	36870393	36870475	Frame-shift
ENST00000442504	36870393	36870475	Frame-shift
ENST00000448602	36870393	36870475	Frame-shift
ENST00000310758	36887560	36887672	Frame-shift
ENST00000442504	36887560	36887672	Frame-shift
ENST00000448602	36887560	36887672	Frame-shift
ENST00000310758	37133130	37133234	In-frame
ENST00000442504	37133130	37133234	In-frame
ENST00000448602	37133130	37133234	In-frame
ENST00000310758	37271832	37271882	In-frame
ENST00000442504	37271832	37271882	In-frame
ENST00000448602	37271832	37271882	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
ENST00000310758	36870393	36870475	Frame-shift
ENST00000442504	36870393	36870475	Frame-shift
ENST00000448602	36870393	36870475	Frame-shift
ENST00000310758	36887560	36887672	Frame-shift
ENST00000442504	36887560	36887672	Frame-shift
ENST00000448602	36887560	36887672	Frame-shift
ENST00000310758	37133130	37133234	In-frame
ENST00000442504	37133130	37133234	In-frame
ENST00000448602	37133130	37133234	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
ENST00000310758	37342613	37342763	3UTR-3CDS
ENST00000448602	37342613	37342763	3UTR-3CDS
ENST00000310758	36870393	36870475	Frame-shift
ENST00000442504	36870393	36870475	Frame-shift
ENST00000448602	36870393	36870475	Frame-shift
ENST00000310758	36887560	36887672	Frame-shift
ENST00000442504	36887560	36887672	Frame-shift
ENST00000448602	36887560	36887672	Frame-shift
ENST00000310758	37224879	37225030	Frame-shift
ENST00000442504	37224879	37225030	Frame-shift
ENST00000448602	37224879	37225030	Frame-shift
ENST00000310758	36878010	36878117	In-frame
ENST00000442504	36878010	36878117	In-frame
ENST00000448602	36878010	36878117	In-frame
ENST00000310758	37133130	37133234	In-frame
ENST00000442504	37133130	37133234	In-frame
ENST00000448602	37133130	37133234	In-frame
ENST00000310758	37271832	37271882	In-frame
ENST00000442504	37271832	37271882	In-frame
ENST00000448602	37271832	37271882	In-frame

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Infer the effects of exon skipping event on protein functional features for ELMO1

p-ENSG00000155849_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
ENST00000310758	4039	727	37271832	37271882	841	890	64	80
ENST00000442504	3171	727	37271832	37271882	903	952	64	80
ENST00000448602	2638	727	37271832	37271882	630	679	64	80
ENST00000310758	4039	727	37133130	37133234	1735	1838	362	396
ENST00000442504	3171	727	37133130	37133234	1797	1900	362	396
ENST00000448602	2638	727	37133130	37133234	1524	1627	362	396

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
ENST00000310758	4039	727	37133130	37133234	1735	1838	362	396
ENST00000442504	3171	727	37133130	37133234	1797	1900	362	396
ENST00000448602	2638	727	37133130	37133234	1524	1627	362	396

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
ENST00000310758	4039	727	37271832	37271882	841	890	64	80
ENST00000442504	3171	727	37271832	37271882	903	952	64	80
ENST00000448602	2638	727	37271832	37271882	630	679	64	80
ENST00000310758	4039	727	37133130	37133234	1735	1838	362	396
ENST00000442504	3171	727	37133130	37133234	1797	1900	362	396
ENST00000448602	2638	727	37133130	37133234	1524	1627	362	396
ENST00000310758	4039	727	36878010	36878117	2363	2469	571	607
ENST00000442504	3171	727	36878010	36878117	2425	2531	571	607
ENST00000448602	2638	727	36878010	36878117	2152	2258	571	607

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
Q92556	64	80	1	480	Alternative sequence	ID=VSP_007480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9179496;Dbxref=PMID:15489334,PMID:9179496
Q92556	64	80	1	480	Alternative sequence	ID=VSP_007480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9179496;Dbxref=PMID:15489334,PMID:9179496
Q92556	64	80	1	480	Alternative sequence	ID=VSP_007480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9179496;Dbxref=PMID:15489334,PMID:9179496
Q92556	64	80	1	298	Alternative sequence	ID=VSP_038550;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q92556	64	80	1	298	Alternative sequence	ID=VSP_038550;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q92556	64	80	1	298	Alternative sequence	ID=VSP_038550;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q92556	64	80	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	64	80	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	64	80	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	362	396	1	480	Alternative sequence	ID=VSP_007480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9179496;Dbxref=PMID:15489334,PMID:9179496
Q92556	362	396	1	480	Alternative sequence	ID=VSP_007480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9179496;Dbxref=PMID:15489334,PMID:9179496
Q92556	362	396	1	480	Alternative sequence	ID=VSP_007480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9179496;Dbxref=PMID:15489334,PMID:9179496
Q92556	362	396	299	362	Alternative sequence	ID=VSP_038551;Note=In isoform 3. VLTFNLLEDRMMTKMDPQDQAQRDIIFELRRIAFDAESEPNNSSGSMEKRKSMYTRDYKKLGFI->MSEHQKEQTLDTPSLRTVTLTVRVHGFILEVSKTKNPPIPDTFWPPRWDHRPSPGGETNAYCQM;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q92556	362	396	299	362	Alternative sequence	ID=VSP_038551;Note=In isoform 3. VLTFNLLEDRMMTKMDPQDQAQRDIIFELRRIAFDAESEPNNSSGSMEKRKSMYTRDYKKLGFI->MSEHQKEQTLDTPSLRTVTLTVRVHGFILEVSKTKNPPIPDTFWPPRWDHRPSPGGETNAYCQM;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q92556	362	396	299	362	Alternative sequence	ID=VSP_038551;Note=In isoform 3. VLTFNLLEDRMMTKMDPQDQAQRDIIFELRRIAFDAESEPNNSSGSMEKRKSMYTRDYKKLGFI->MSEHQKEQTLDTPSLRTVTLTVRVHGFILEVSKTKNPPIPDTFWPPRWDHRPSPGGETNAYCQM;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q92556	362	396	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	362	396	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	362	396	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	362	396	319	492	Domain	Note=ELMO;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00664
Q92556	362	396	319	492	Domain	Note=ELMO;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00664
Q92556	362	396	319	492	Domain	Note=ELMO;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00664
Q92556	362	396	395	395	Modified residue	Note=Phosphotyrosine%3B by HCK;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15952790;Dbxref=PMID:15952790
Q92556	362	396	395	395	Modified residue	Note=Phosphotyrosine%3B by HCK;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15952790;Dbxref=PMID:15952790
Q92556	362	396	395	395	Modified residue	Note=Phosphotyrosine%3B by HCK;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15952790;Dbxref=PMID:15952790
Q92556	362	396	362	362	Natural variant	ID=VAR_065824;Note=I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20869035;Dbxref=PMID:20869035
Q92556	362	396	362	362	Natural variant	ID=VAR_065824;Note=I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20869035;Dbxref=PMID:20869035
Q92556	362	396	362	362	Natural variant	ID=VAR_065824;Note=I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20869035;Dbxref=PMID:20869035

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
Q92556	362	396	1	480	Alternative sequence	ID=VSP_007480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9179496;Dbxref=PMID:15489334,PMID:9179496
Q92556	362	396	1	480	Alternative sequence	ID=VSP_007480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9179496;Dbxref=PMID:15489334,PMID:9179496
Q92556	362	396	1	480	Alternative sequence	ID=VSP_007480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9179496;Dbxref=PMID:15489334,PMID:9179496
Q92556	362	396	299	362	Alternative sequence	ID=VSP_038551;Note=In isoform 3. VLTFNLLEDRMMTKMDPQDQAQRDIIFELRRIAFDAESEPNNSSGSMEKRKSMYTRDYKKLGFI->MSEHQKEQTLDTPSLRTVTLTVRVHGFILEVSKTKNPPIPDTFWPPRWDHRPSPGGETNAYCQM;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q92556	362	396	299	362	Alternative sequence	ID=VSP_038551;Note=In isoform 3. VLTFNLLEDRMMTKMDPQDQAQRDIIFELRRIAFDAESEPNNSSGSMEKRKSMYTRDYKKLGFI->MSEHQKEQTLDTPSLRTVTLTVRVHGFILEVSKTKNPPIPDTFWPPRWDHRPSPGGETNAYCQM;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q92556	362	396	299	362	Alternative sequence	ID=VSP_038551;Note=In isoform 3. VLTFNLLEDRMMTKMDPQDQAQRDIIFELRRIAFDAESEPNNSSGSMEKRKSMYTRDYKKLGFI->MSEHQKEQTLDTPSLRTVTLTVRVHGFILEVSKTKNPPIPDTFWPPRWDHRPSPGGETNAYCQM;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q92556	362	396	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	362	396	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	362	396	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	362	396	319	492	Domain	Note=ELMO;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00664
Q92556	362	396	319	492	Domain	Note=ELMO;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00664
Q92556	362	396	319	492	Domain	Note=ELMO;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00664
Q92556	362	396	395	395	Modified residue	Note=Phosphotyrosine%3B by HCK;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15952790;Dbxref=PMID:15952790
Q92556	362	396	395	395	Modified residue	Note=Phosphotyrosine%3B by HCK;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15952790;Dbxref=PMID:15952790
Q92556	362	396	395	395	Modified residue	Note=Phosphotyrosine%3B by HCK;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15952790;Dbxref=PMID:15952790
Q92556	362	396	362	362	Natural variant	ID=VAR_065824;Note=I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20869035;Dbxref=PMID:20869035
Q92556	362	396	362	362	Natural variant	ID=VAR_065824;Note=I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20869035;Dbxref=PMID:20869035
Q92556	362	396	362	362	Natural variant	ID=VAR_065824;Note=I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20869035;Dbxref=PMID:20869035

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
Q92556	64	80	1	480	Alternative sequence	ID=VSP_007480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9179496;Dbxref=PMID:15489334,PMID:9179496
Q92556	64	80	1	480	Alternative sequence	ID=VSP_007480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9179496;Dbxref=PMID:15489334,PMID:9179496
Q92556	64	80	1	480	Alternative sequence	ID=VSP_007480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9179496;Dbxref=PMID:15489334,PMID:9179496
Q92556	64	80	1	298	Alternative sequence	ID=VSP_038550;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q92556	64	80	1	298	Alternative sequence	ID=VSP_038550;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q92556	64	80	1	298	Alternative sequence	ID=VSP_038550;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q92556	64	80	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	64	80	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	64	80	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	362	396	1	480	Alternative sequence	ID=VSP_007480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9179496;Dbxref=PMID:15489334,PMID:9179496
Q92556	362	396	1	480	Alternative sequence	ID=VSP_007480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9179496;Dbxref=PMID:15489334,PMID:9179496
Q92556	362	396	1	480	Alternative sequence	ID=VSP_007480;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:9179496;Dbxref=PMID:15489334,PMID:9179496
Q92556	362	396	299	362	Alternative sequence	ID=VSP_038551;Note=In isoform 3. VLTFNLLEDRMMTKMDPQDQAQRDIIFELRRIAFDAESEPNNSSGSMEKRKSMYTRDYKKLGFI->MSEHQKEQTLDTPSLRTVTLTVRVHGFILEVSKTKNPPIPDTFWPPRWDHRPSPGGETNAYCQM;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q92556	362	396	299	362	Alternative sequence	ID=VSP_038551;Note=In isoform 3. VLTFNLLEDRMMTKMDPQDQAQRDIIFELRRIAFDAESEPNNSSGSMEKRKSMYTRDYKKLGFI->MSEHQKEQTLDTPSLRTVTLTVRVHGFILEVSKTKNPPIPDTFWPPRWDHRPSPGGETNAYCQM;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q92556	362	396	299	362	Alternative sequence	ID=VSP_038551;Note=In isoform 3. VLTFNLLEDRMMTKMDPQDQAQRDIIFELRRIAFDAESEPNNSSGSMEKRKSMYTRDYKKLGFI->MSEHQKEQTLDTPSLRTVTLTVRVHGFILEVSKTKNPPIPDTFWPPRWDHRPSPGGETNAYCQM;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q92556	362	396	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	362	396	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	362	396	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	362	396	319	492	Domain	Note=ELMO;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00664
Q92556	362	396	319	492	Domain	Note=ELMO;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00664
Q92556	362	396	319	492	Domain	Note=ELMO;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00664
Q92556	362	396	395	395	Modified residue	Note=Phosphotyrosine%3B by HCK;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15952790;Dbxref=PMID:15952790
Q92556	362	396	395	395	Modified residue	Note=Phosphotyrosine%3B by HCK;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15952790;Dbxref=PMID:15952790
Q92556	362	396	395	395	Modified residue	Note=Phosphotyrosine%3B by HCK;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15952790;Dbxref=PMID:15952790
Q92556	362	396	362	362	Natural variant	ID=VAR_065824;Note=I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20869035;Dbxref=PMID:20869035
Q92556	362	396	362	362	Natural variant	ID=VAR_065824;Note=I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20869035;Dbxref=PMID:20869035
Q92556	362	396	362	362	Natural variant	ID=VAR_065824;Note=I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20869035;Dbxref=PMID:20869035
Q92556	571	607	569	571	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VSZ
Q92556	571	607	569	571	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VSZ
Q92556	571	607	569	571	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2VSZ
Q92556	571	607	573	579	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3A98
Q92556	571	607	573	579	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3A98
Q92556	571	607	573	579	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3A98
Q92556	571	607	583	590	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3A98
Q92556	571	607	583	590	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3A98
Q92556	571	607	583	590	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3A98
Q92556	571	607	607	609	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3A98
Q92556	571	607	607	609	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3A98
Q92556	571	607	607	609	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3A98
Q92556	571	607	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	571	607	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	571	607	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	571	607	555	676	Domain	Note=PH
Q92556	571	607	555	676	Domain	Note=PH
Q92556	571	607	555	676	Domain	Note=PH

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3'-UTR located exon skipping events that lost miRNA binding sites in ELMO1

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 ELMO1

- 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 ELMO1

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 ELMO1

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 ELMO1

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for ELMO1

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 ELMO1

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 ELMO1

Gene structures and expression levels for ELMO1

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ELMO1

Open reading frame (ORF) annotation in the exon skipping event for ELMO1

Infer the effects of exon skipping event on protein functional features for ELMO1

3'-UTR located exon skipping events that lost miRNA binding sites in ELMO1

SNVs in the skipped exons for ELMO1

AD stage-associated exon skippint events for ELMO1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ELMO1

Correlation with RNA binding proteins (RBPs) for ELMO1

RelatedDrugs for ELMO1

RelatedDiseases for ELMO1