ExonSkipDB: 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	20180519
	UniProtAcc	Q92556
	Context	PubMed: ELMO1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

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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Exon skipping events across known transcript of Ensembl for ELMO1 from UCSC genome browser

Skipped exons in TCGA and GTEx 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.

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Gene isoform structures and expression levels for ELMO1

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for ELMO1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_474737	7	36901263:36901341:36909997:36910080:36917614:36917722	36909997:36910080	ENSG00000155849.11	ENST00000448602.1,ENST00000310758.4,ENST00000442504.1,ENST00000396045.3,ENST00000341056.3,ENST00000396040.2
exon_skip_474741	7	36909997:36910080:36917614:36917722:36927164:36927277	36917614:36917722	ENSG00000155849.11	ENST00000448602.1,ENST00000310758.4,ENST00000442504.1,ENST00000396045.3,ENST00000341056.3,ENST00000396040.2
exon_skip_474742	7	36909997:36910080:36917614:36917722:36934458:36934622	36917614:36917722	ENSG00000155849.11	ENST00000464262.2
exon_skip_474744	7	36917614:36917722:36927164:36927277:36934458:36934613	36927164:36927277	ENSG00000155849.11	ENST00000448602.1,ENST00000310758.4,ENST00000442504.1,ENST00000396045.3,ENST00000341056.3,ENST00000396040.2
exon_skip_474746	7	36927164:36927277:36934458:36934622:37025527:37025721	36934458:36934622	ENSG00000155849.11	ENST00000396045.3
exon_skip_474748	7	37052903:37053040:37072951:37073017:37136223:37136332	37072951:37073017	ENSG00000155849.11	ENST00000420636.1
exon_skip_474749	7	37136282:37136332:37172734:37172839:37250990:37251122	37172734:37172839	ENSG00000155849.11	ENST00000448602.1,ENST00000310758.4,ENST00000442504.1,ENST00000420636.1,ENST00000433246.1
exon_skip_474752	7	37252939:37253062:37256249:37256300:37262219:37262293	37256249:37256300	ENSG00000155849.11	ENST00000448602.1,ENST00000310758.4,ENST00000442504.1,ENST00000487336.1
exon_skip_474753	7	37256249:37256300:37257316:37257361:37262219:37262293	37257316:37257361	ENSG00000155849.11	ENST00000433246.1
exon_skip_474755	7	37298785:37298955:37311436:37311487:37354453:37354526	37311436:37311487	ENSG00000155849.11	ENST00000448602.1,ENST00000310758.4,ENST00000455879.1,ENST00000442504.1,ENST00000455119.1
exon_skip_474756	7	37355523:37355564:37382216:37382367:37488277:37488459	37382216:37382367	ENSG00000155849.11	ENST00000310758.4,ENST00000463390.1
exon_skip_474757	7	37382216:37382367:37433424:37433520:37488277:37488459	37433424:37433520	ENSG00000155849.11	ENST00000445322.1
exon_skip_474758	7	37382216:37382367:37433424:37433520:37488462:37488553	37433424:37433520	ENSG00000155849.11	ENST00000453399.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ELMO1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_474737	7	36901263:36901341:36909997:36910080:36917614:36917722	36909997:36910080	ENSG00000155849.11	ENST00000341056.3,ENST00000396045.3,ENST00000310758.4,ENST00000396040.2,ENST00000442504.1,ENST00000448602.1
exon_skip_474741	7	36909997:36910080:36917614:36917722:36927164:36927277	36917614:36917722	ENSG00000155849.11	ENST00000341056.3,ENST00000396045.3,ENST00000310758.4,ENST00000396040.2,ENST00000442504.1,ENST00000448602.1
exon_skip_474742	7	36909997:36910080:36917614:36917722:36934458:36934622	36917614:36917722	ENSG00000155849.11	ENST00000464262.2
exon_skip_474744	7	36917614:36917722:36927164:36927277:36934458:36934613	36927164:36927277	ENSG00000155849.11	ENST00000341056.3,ENST00000396045.3,ENST00000310758.4,ENST00000396040.2,ENST00000442504.1,ENST00000448602.1
exon_skip_474746	7	36927164:36927277:36934458:36934622:37025527:37025721	36934458:36934622	ENSG00000155849.11	ENST00000396045.3
exon_skip_474748	7	37052903:37053040:37072951:37073017:37136223:37136332	37072951:37073017	ENSG00000155849.11	ENST00000420636.1
exon_skip_474749	7	37136282:37136332:37172734:37172839:37250990:37251122	37172734:37172839	ENSG00000155849.11	ENST00000310758.4,ENST00000442504.1,ENST00000448602.1,ENST00000420636.1,ENST00000433246.1
exon_skip_474752	7	37252939:37253062:37256249:37256300:37262219:37262293	37256249:37256300	ENSG00000155849.11	ENST00000310758.4,ENST00000442504.1,ENST00000448602.1,ENST00000487336.1
exon_skip_474753	7	37256249:37256300:37257316:37257361:37262219:37262293	37257316:37257361	ENSG00000155849.11	ENST00000433246.1
exon_skip_474754	7	37272709:37272799:37283960:37283996:37298785:37298955	37283960:37283996	ENSG00000155849.11	ENST00000310758.4,ENST00000442504.1,ENST00000448602.1
exon_skip_474755	7	37298785:37298955:37311436:37311487:37354453:37354526	37311436:37311487	ENSG00000155849.11	ENST00000310758.4,ENST00000442504.1,ENST00000448602.1,ENST00000455119.1,ENST00000455879.1
exon_skip_474756	7	37355523:37355564:37382216:37382367:37488277:37488459	37382216:37382367	ENSG00000155849.11	ENST00000310758.4,ENST00000463390.1
exon_skip_474757	7	37382216:37382367:37433424:37433520:37488277:37488459	37433424:37433520	ENSG00000155849.11	ENST00000445322.1
exon_skip_474758	7	37382216:37382367:37433424:37433520:37488462:37488553	37433424:37433520	ENSG00000155849.11	ENST00000453399.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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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 TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000310758	37382216	37382367	3UTR-3CDS
ENST00000310758	36909997	36910080	Frame-shift
ENST00000442504	36909997	36910080	Frame-shift
ENST00000448602	36909997	36910080	Frame-shift
ENST00000310758	36927164	36927277	Frame-shift
ENST00000442504	36927164	36927277	Frame-shift
ENST00000448602	36927164	36927277	Frame-shift
ENST00000310758	36917614	36917722	In-frame
ENST00000442504	36917614	36917722	In-frame
ENST00000448602	36917614	36917722	In-frame
ENST00000310758	37172734	37172839	In-frame
ENST00000442504	37172734	37172839	In-frame
ENST00000448602	37172734	37172839	In-frame
ENST00000310758	37256249	37256300	In-frame
ENST00000442504	37256249	37256300	In-frame
ENST00000448602	37256249	37256300	In-frame
ENST00000310758	37311436	37311487	In-frame
ENST00000442504	37311436	37311487	In-frame
ENST00000448602	37311436	37311487	In-frame

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000310758	37382216	37382367	3UTR-3CDS
ENST00000310758	36909997	36910080	Frame-shift
ENST00000442504	36909997	36910080	Frame-shift
ENST00000448602	36909997	36910080	Frame-shift
ENST00000310758	36927164	36927277	Frame-shift
ENST00000442504	36927164	36927277	Frame-shift
ENST00000448602	36927164	36927277	Frame-shift
ENST00000310758	36917614	36917722	In-frame
ENST00000442504	36917614	36917722	In-frame
ENST00000448602	36917614	36917722	In-frame
ENST00000310758	37172734	37172839	In-frame
ENST00000442504	37172734	37172839	In-frame
ENST00000448602	37172734	37172839	In-frame
ENST00000310758	37256249	37256300	In-frame
ENST00000442504	37256249	37256300	In-frame
ENST00000448602	37256249	37256300	In-frame
ENST00000310758	37283960	37283996	In-frame
ENST00000442504	37283960	37283996	In-frame
ENST00000448602	37283960	37283996	In-frame
ENST00000310758	37311436	37311487	In-frame
ENST00000442504	37311436	37311487	In-frame
ENST00000448602	37311436	37311487	In-frame

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

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

Loci of skipped exons in TCGA 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	37311436	37311487	841	891	64	81
ENST00000442504	3171	727	37311436	37311487	903	953	64	81
ENST00000448602	2638	727	37311436	37311487	630	680	64	81
ENST00000310758	4039	727	37256249	37256300	1429	1479	260	277
ENST00000442504	3171	727	37256249	37256300	1491	1541	260	277
ENST00000448602	2638	727	37256249	37256300	1218	1268	260	277
ENST00000310758	4039	727	37172734	37172839	1735	1839	362	397
ENST00000442504	3171	727	37172734	37172839	1797	1901	362	397
ENST00000448602	2638	727	37172734	37172839	1524	1628	362	397
ENST00000310758	4039	727	36917614	36917722	2363	2470	571	607
ENST00000442504	3171	727	36917614	36917722	2425	2532	571	607
ENST00000448602	2638	727	36917614	36917722	2152	2259	571	607

Loci of skipped exons in GTEx 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	37311436	37311487	841	891	64	81
ENST00000442504	3171	727	37311436	37311487	903	953	64	81
ENST00000448602	2638	727	37311436	37311487	630	680	64	81
ENST00000310758	4039	727	37283960	37283996	1062	1097	138	149
ENST00000442504	3171	727	37283960	37283996	1124	1159	138	149
ENST00000448602	2638	727	37283960	37283996	851	886	138	149
ENST00000310758	4039	727	37256249	37256300	1429	1479	260	277
ENST00000442504	3171	727	37256249	37256300	1491	1541	260	277
ENST00000448602	2638	727	37256249	37256300	1218	1268	260	277
ENST00000310758	4039	727	37172734	37172839	1735	1839	362	397
ENST00000442504	3171	727	37172734	37172839	1797	1901	362	397
ENST00000448602	2638	727	37172734	37172839	1524	1628	362	397
ENST00000310758	4039	727	36917614	36917722	2363	2470	571	607
ENST00000442504	3171	727	36917614	36917722	2425	2532	571	607
ENST00000448602	2638	727	36917614	36917722	2152	2259	571	607

Lost protein functional features of individual exon skipping events in TCGA.

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	81	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	81	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	81	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	81	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	81	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	81	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	81	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	64	81	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	64	81	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	260	277	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	260	277	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	260	277	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	260	277	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	260	277	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	260	277	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	260	277	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	260	277	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	260	277	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	362	397	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	397	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	397	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	397	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	397	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	397	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	397	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	362	397	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	362	397	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	362	397	319	492	Domain	Note=ELMO;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00664
Q92556	362	397	319	492	Domain	Note=ELMO;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00664
Q92556	362	397	319	492	Domain	Note=ELMO;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00664
Q92556	362	397	395	395	Modified residue	Note=Phosphotyrosine%3B by HCK;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15952790;Dbxref=PMID:15952790
Q92556	362	397	395	395	Modified residue	Note=Phosphotyrosine%3B by HCK;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15952790;Dbxref=PMID:15952790
Q92556	362	397	395	395	Modified residue	Note=Phosphotyrosine%3B by HCK;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15952790;Dbxref=PMID:15952790
Q92556	362	397	362	362	Natural variant	ID=VAR_065824;Note=I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20869035;Dbxref=PMID:20869035
Q92556	362	397	362	362	Natural variant	ID=VAR_065824;Note=I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20869035;Dbxref=PMID:20869035
Q92556	362	397	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

Lost protein functional features of individual exon skipping events in GTEx.

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	81	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	81	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	81	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	81	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	81	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	81	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	81	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	64	81	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	64	81	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	138	149	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	138	149	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	138	149	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	138	149	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	138	149	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	138	149	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	138	149	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	138	149	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	138	149	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	260	277	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	260	277	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	260	277	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	260	277	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	260	277	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	260	277	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	260	277	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	260	277	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	260	277	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	362	397	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	397	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	397	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	397	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	397	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	397	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	397	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	362	397	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	362	397	1	727	Chain	ID=PRO_0000153712;Note=Engulfment and cell motility protein 1
Q92556	362	397	319	492	Domain	Note=ELMO;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00664
Q92556	362	397	319	492	Domain	Note=ELMO;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00664
Q92556	362	397	319	492	Domain	Note=ELMO;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00664
Q92556	362	397	395	395	Modified residue	Note=Phosphotyrosine%3B by HCK;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15952790;Dbxref=PMID:15952790
Q92556	362	397	395	395	Modified residue	Note=Phosphotyrosine%3B by HCK;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15952790;Dbxref=PMID:15952790
Q92556	362	397	395	395	Modified residue	Note=Phosphotyrosine%3B by HCK;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15952790;Dbxref=PMID:15952790
Q92556	362	397	362	362	Natural variant	ID=VAR_065824;Note=I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20869035;Dbxref=PMID:20869035
Q92556	362	397	362	362	Natural variant	ID=VAR_065824;Note=I->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20869035;Dbxref=PMID:20869035
Q92556	362	397	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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SNVs in the skipped exons for ELMO1

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A1EG-01	exon_skip_474737	36909998	36910080	36910012	36910012	Frame_Shift_Del	G	-	p.L631fs
LIHC	TCGA-DD-A39Y-01	exon_skip_474744	36927165	36927277	36927202	36927202	Frame_Shift_Del	C	-	p.G559fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_474749	37172735	37172839	37172765	37172765	Frame_Shift_Del	A	-	p.A388fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_474749	37172735	37172839	37172765	37172765	Frame_Shift_Del	A	-	p.F387fs
SKCM	TCGA-D3-A8GM-06	exon_skip_474755	37311437	37311487	37311468	37311468	Frame_Shift_Del	T	-	p.N71fs
STAD	TCGA-HU-A4GX-01	exon_skip_474755	37311437	37311487	37311468	37311468	Frame_Shift_Del	T	-	p.N71fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_474756	37382217	37382367	37382225	37382225	Frame_Shift_Del	T	-	p.I24fs
HNSC	TCGA-BA-A6DA-01	exon_skip_474741 exon_skip_474742	36917615	36917722	36917673	36917673	Nonsense_Mutation	G	T	p.Y588*
CESC	TCGA-IR-A3LI-01	exon_skip_474755	37311437	37311487	37311454	37311454	Nonsense_Mutation	G	A	p.R76*
SKCM	TCGA-ER-A19O-06	exon_skip_474756	37382217	37382367	37382254	37382254	Nonsense_Mutation	C	T	p.W14*
SKCM	TCGA-ER-A19O-06	exon_skip_474756	37382217	37382367	37382254	37382254	Nonsense_Mutation	C	T	p.W14X
PAAD	TCGA-FB-A5VM-01	exon_skip_474741 exon_skip_474742	36917615	36917722	36917614	36917614	Splice_Site	C	T	.

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons

Mutation description

- 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
HUTU80_SMALL_INTESTINE	37311437	37311487	37311467	37311468	Frame_Shift_Ins	-	T	p.N71fs
RKO_LARGE_INTESTINE	36909998	36910080	36910012	36910012	Missense_Mutation	G	T	p.L631I
CALU6_LUNG	36909998	36910080	36910017	36910017	Missense_Mutation	C	A	p.G629V
HCC1438_LUNG	36909998	36910080	36910024	36910024	Missense_Mutation	C	G	p.E627Q
K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	36909998	36910080	36910028	36910028	Missense_Mutation	C	A	p.M625I
A704_KIDNEY	36909998	36910080	36910032	36910032	Missense_Mutation	T	G	p.H624P
LS411N_LARGE_INTESTINE	36917615	36917722	36917639	36917639	Missense_Mutation	G	A	p.P600S
SNUC2A_LARGE_INTESTINE	36927165	36927277	36927216	36927216	Missense_Mutation	G	A	p.R555C
SNUC2B_LARGE_INTESTINE	36927165	36927277	36927216	36927216	Missense_Mutation	G	A	p.R555C
LU139_LUNG	36927165	36927277	36927218	36927218	Missense_Mutation	T	A	p.N554I
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	36927165	36927277	36927218	36927218	Missense_Mutation	T	C	p.N554S
BT483_BREAST	36934459	36934622	36934491	36934491	Missense_Mutation	C	T	p.M523I
KPNSI9S_AUTONOMIC_GANGLIA	36934459	36934622	36934561	36934561	Missense_Mutation	T	C	p.D500G
NCIH1734_LUNG	36934459	36934622	36934617	36934617	Missense_Mutation	C	A	p.M481I
VMCUB1_URINARY_TRACT	37172735	37172839	37172829	37172829	Missense_Mutation	T	A	p.N366I
NCIH1436_LUNG	37256250	37256300	37256284	37256284	Missense_Mutation	A	G	p.L266S
LS411N_LARGE_INTESTINE	37311437	37311487	37311460	37311460	Missense_Mutation	T	C	p.I74V
KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	37311437	37311487	37311475	37311475	Missense_Mutation	T	C	p.I69V
KYSE220_OESOPHAGUS	37382217	37382367	37382221	37382221	Missense_Mutation	T	G	p.D25A
NB17_AUTONOMIC_GANGLIA	36909998	36910080	36910024	36910024	Nonsense_Mutation	C	A	p.E627*
OVK18_OVARY	36909998	36910080	36909999	36909999	Splice_Site	T	C	p.K635R

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

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ELMO1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ELMO1

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RelatedDrugs for ELMO1

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

Gene

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
ELMO1	C0011881	Diabetic Nephropathy	1	CTD_human
ELMO1	C0038325	Stevens-Johnson Syndrome	1	CTD_human
ELMO1	C0279628	Adenocarcinoma Of Esophagus	1	CTD_human

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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