ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ACSL1

Gene summary

Gene information	Gene symbol	ACSL1
	Gene ID	2180
	Gene name	acyl-CoA synthetase long chain family member 1
	Synonyms	ACS1\|FACL1\|FACL2\|LACS\|LACS1\|LACS2
	Cytomap	4q35.1
	Type of gene	protein-coding
	Description	long-chain-fatty-acid--CoA ligase 1LACS 1LACS 2acyl-CoA synthetase 1fatty-acid-Coenzyme A ligase, long-chain 1fatty-acid-Coenzyme A ligase, long-chain 2lignoceroyl-CoA synthaselong-chain acyl-CoA synthetase 1long-chain acyl-CoA synthetase 2long-c
	Modification date	20180522
	UniProtAcc	P33121
	Context	PubMed: ACSL1 [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
ACSL1	GO:0001676	long-chain fatty acid metabolic process	22022213
ACSL1	GO:0008610	lipid biosynthetic process	21242590
ACSL1	GO:0044539	long-chain fatty acid import	22022213

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Exon skipping events across known transcript of Ensembl for ACSL1 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 ACSL1

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 ACSL1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_433326	4	185678788:185678860:185678972:185679074:185681510:185681654	185678972:185679074	ENSG00000151726.9	ENST00000454703.2,ENST00000506733.1,ENST00000437665.3,ENST00000281455.2,ENST00000503407.1,ENST00000513317.1,ENST00000504342.1,ENST00000515030.1,ENST00000507295.1
exon_skip_433327	4	185686006:185686079:185687044:185687140:185687775:185687856	185687044:185687140	ENSG00000151726.9	ENST00000454703.2,ENST00000506733.1,ENST00000437665.3,ENST00000281455.2,ENST00000503407.1,ENST00000513317.1,ENST00000504342.1,ENST00000515030.1,ENST00000507295.1
exon_skip_433329	4	185689481:185689604:185691408:185691486:185694234:185694308	185691408:185691486	ENSG00000151726.9	ENST00000513317.1
exon_skip_433330	4	185689481:185689604:185691552:185691630:185694234:185694308	185691552:185691630	ENSG00000151726.9	ENST00000454703.2,ENST00000506733.1,ENST00000437665.3,ENST00000281455.2,ENST00000504900.1,ENST00000504342.1,ENST00000515030.1,ENST00000507295.1
exon_skip_433333	4	185691552:185691630:185694234:185694308:185694816:185694868	185694234:185694308	ENSG00000151726.9	ENST00000454703.2,ENST00000506733.1,ENST00000437665.3,ENST00000281455.2,ENST00000504900.1,ENST00000504342.1,ENST00000515030.1,ENST00000507295.1
exon_skip_433335	4	185694816:185694868:185694996:185695029:185697637:185697816	185694996:185695029	ENSG00000151726.9	ENST00000454703.2,ENST00000506733.1,ENST00000437665.3,ENST00000281455.2,ENST00000504900.1,ENST00000513317.1,ENST00000504342.1,ENST00000515030.1,ENST00000507295.1
exon_skip_433337	4	185694996:185695029:185697637:185697816:185698037:185698137	185697637:185697816	ENSG00000151726.9	ENST00000454703.2,ENST00000506733.1,ENST00000437665.3,ENST00000281455.2,ENST00000504900.1,ENST00000513317.1,ENST00000504342.1,ENST00000515030.1,ENST00000507295.1
exon_skip_433340	4	185698037:185698137:185701485:185701587:185705080:185705145	185701485:185701587	ENSG00000151726.9	ENST00000454703.2,ENST00000506733.1,ENST00000437665.3,ENST00000281455.2,ENST00000504900.1,ENST00000513317.1,ENST00000504342.1,ENST00000515030.1
exon_skip_433342	4	185698037:185698137:185705080:185705145:185709770:185709885	185705080:185705145	ENSG00000151726.9	ENST00000507295.1
exon_skip_433343	4	185701485:185701587:185705080:185705145:185709770:185709885	185705080:185705145	ENSG00000151726.9	ENST00000454703.2,ENST00000281455.2,ENST00000504900.1,ENST00000513317.1,ENST00000504342.1,ENST00000515030.1
exon_skip_433344	4	185705080:185705145:185709532:185709667:185709770:185709880	185709532:185709667	ENSG00000151726.9	ENST00000506733.1,ENST00000437665.3
exon_skip_433348	4	185709770:185709885:185724473:185724700:185747069:185747188	185724473:185724700	ENSG00000151726.9	ENST00000281455.2,ENST00000504900.1,ENST00000507295.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ACSL1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_433326	4	185678788:185678860:185678972:185679074:185681510:185681654	185678972:185679074	ENSG00000151726.9	ENST00000454703.2,ENST00000515030.1,ENST00000503407.1,ENST00000281455.2,ENST00000507295.1,ENST00000506733.1,ENST00000437665.3,ENST00000504342.1,ENST00000513317.1
exon_skip_433327	4	185686006:185686079:185687044:185687140:185687775:185687856	185687044:185687140	ENSG00000151726.9	ENST00000454703.2,ENST00000515030.1,ENST00000503407.1,ENST00000281455.2,ENST00000507295.1,ENST00000506733.1,ENST00000437665.3,ENST00000504342.1,ENST00000513317.1
exon_skip_433329	4	185689481:185689604:185691408:185691486:185694234:185694308	185691408:185691486	ENSG00000151726.9	ENST00000513317.1
exon_skip_433330	4	185689481:185689604:185691552:185691630:185694234:185694308	185691552:185691630	ENSG00000151726.9	ENST00000454703.2,ENST00000515030.1,ENST00000281455.2,ENST00000507295.1,ENST00000506733.1,ENST00000437665.3,ENST00000504342.1,ENST00000504900.1
exon_skip_433333	4	185691552:185691630:185694234:185694308:185694816:185694868	185694234:185694308	ENSG00000151726.9	ENST00000454703.2,ENST00000515030.1,ENST00000281455.2,ENST00000507295.1,ENST00000506733.1,ENST00000437665.3,ENST00000504342.1,ENST00000504900.1
exon_skip_433335	4	185694816:185694868:185694996:185695029:185697637:185697816	185694996:185695029	ENSG00000151726.9	ENST00000454703.2,ENST00000515030.1,ENST00000281455.2,ENST00000507295.1,ENST00000506733.1,ENST00000437665.3,ENST00000504342.1,ENST00000513317.1,ENST00000504900.1
exon_skip_433337	4	185694996:185695029:185697637:185697816:185698037:185698137	185697637:185697816	ENSG00000151726.9	ENST00000454703.2,ENST00000515030.1,ENST00000281455.2,ENST00000507295.1,ENST00000506733.1,ENST00000437665.3,ENST00000504342.1,ENST00000513317.1,ENST00000504900.1
exon_skip_433340	4	185698037:185698137:185701485:185701587:185705080:185705145	185701485:185701587	ENSG00000151726.9	ENST00000454703.2,ENST00000515030.1,ENST00000281455.2,ENST00000506733.1,ENST00000437665.3,ENST00000504342.1,ENST00000513317.1,ENST00000504900.1
exon_skip_433342	4	185698037:185698137:185705080:185705145:185709770:185709885	185705080:185705145	ENSG00000151726.9	ENST00000507295.1
exon_skip_433343	4	185701485:185701587:185705080:185705145:185709770:185709885	185705080:185705145	ENSG00000151726.9	ENST00000454703.2,ENST00000515030.1,ENST00000281455.2,ENST00000504342.1,ENST00000513317.1,ENST00000504900.1
exon_skip_433344	4	185705080:185705145:185709532:185709667:185709770:185709880	185709532:185709667	ENSG00000151726.9	ENST00000506733.1,ENST00000437665.3
exon_skip_433348	4	185709770:185709885:185724473:185724700:185747069:185747188	185724473:185724700	ENSG00000151726.9	ENST00000281455.2,ENST00000507295.1,ENST00000504900.1

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 ACSL1

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
ENST00000281455	185724473	185724700	3UTR-3CDS
ENST00000281455	185694234	185694308	Frame-shift
ENST00000504342	185694234	185694308	Frame-shift
ENST00000515030	185694234	185694308	Frame-shift
ENST00000281455	185697637	185697816	Frame-shift
ENST00000504342	185697637	185697816	Frame-shift
ENST00000515030	185697637	185697816	Frame-shift
ENST00000281455	185705080	185705145	Frame-shift
ENST00000504342	185705080	185705145	Frame-shift
ENST00000515030	185705080	185705145	Frame-shift
ENST00000281455	185678972	185679074	In-frame
ENST00000504342	185678972	185679074	In-frame
ENST00000515030	185678972	185679074	In-frame
ENST00000281455	185687044	185687140	In-frame
ENST00000504342	185687044	185687140	In-frame
ENST00000515030	185687044	185687140	In-frame
ENST00000281455	185691552	185691630	In-frame
ENST00000504342	185691552	185691630	In-frame
ENST00000515030	185691552	185691630	In-frame
ENST00000281455	185694996	185695029	In-frame
ENST00000504342	185694996	185695029	In-frame
ENST00000515030	185694996	185695029	In-frame
ENST00000281455	185701485	185701587	In-frame
ENST00000504342	185701485	185701587	In-frame
ENST00000515030	185701485	185701587	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
ENST00000281455	185724473	185724700	3UTR-3CDS
ENST00000281455	185694234	185694308	Frame-shift
ENST00000504342	185694234	185694308	Frame-shift
ENST00000515030	185694234	185694308	Frame-shift
ENST00000281455	185697637	185697816	Frame-shift
ENST00000504342	185697637	185697816	Frame-shift
ENST00000515030	185697637	185697816	Frame-shift
ENST00000281455	185705080	185705145	Frame-shift
ENST00000504342	185705080	185705145	Frame-shift
ENST00000515030	185705080	185705145	Frame-shift
ENST00000281455	185678972	185679074	In-frame
ENST00000504342	185678972	185679074	In-frame
ENST00000515030	185678972	185679074	In-frame
ENST00000281455	185687044	185687140	In-frame
ENST00000504342	185687044	185687140	In-frame
ENST00000515030	185687044	185687140	In-frame
ENST00000281455	185691552	185691630	In-frame
ENST00000504342	185691552	185691630	In-frame
ENST00000515030	185691552	185691630	In-frame
ENST00000281455	185694996	185695029	In-frame
ENST00000504342	185694996	185695029	In-frame
ENST00000515030	185694996	185695029	In-frame
ENST00000281455	185701485	185701587	In-frame
ENST00000504342	185701485	185701587	In-frame
ENST00000515030	185701485	185701587	In-frame

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Infer the effects of exon skipping event on protein functional features for ACSL1

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
ENST00000281455	3849	698	185701485	185701587	587	688	125	159
ENST00000504342	2350	698	185701485	185701587	508	609	125	159
ENST00000515030	3965	698	185701485	185701587	702	803	125	159
ENST00000281455	3849	698	185694996	185695029	968	1000	252	263
ENST00000504342	2350	698	185694996	185695029	889	921	252	263
ENST00000515030	3965	698	185694996	185695029	1083	1115	252	263
ENST00000281455	3849	698	185691552	185691630	1127	1204	305	331
ENST00000504342	2350	698	185691552	185691630	1048	1125	305	331
ENST00000515030	3965	698	185691552	185691630	1242	1319	305	331
ENST00000281455	3849	698	185687044	185687140	1475	1570	421	453
ENST00000504342	2350	698	185687044	185687140	1396	1491	421	453
ENST00000515030	3965	698	185687044	185687140	1590	1685	421	453
ENST00000281455	3849	698	185678972	185679074	1994	2095	594	628
ENST00000504342	2350	698	185678972	185679074	1915	2016	594	628
ENST00000515030	3965	698	185678972	185679074	2109	2210	594	628

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
ENST00000281455	3849	698	185701485	185701587	587	688	125	159
ENST00000504342	2350	698	185701485	185701587	508	609	125	159
ENST00000515030	3965	698	185701485	185701587	702	803	125	159
ENST00000281455	3849	698	185694996	185695029	968	1000	252	263
ENST00000504342	2350	698	185694996	185695029	889	921	252	263
ENST00000515030	3965	698	185694996	185695029	1083	1115	252	263
ENST00000281455	3849	698	185691552	185691630	1127	1204	305	331
ENST00000504342	2350	698	185691552	185691630	1048	1125	305	331
ENST00000515030	3965	698	185691552	185691630	1242	1319	305	331
ENST00000281455	3849	698	185687044	185687140	1475	1570	421	453
ENST00000504342	2350	698	185687044	185687140	1396	1491	421	453
ENST00000515030	3965	698	185687044	185687140	1590	1685	421	453
ENST00000281455	3849	698	185678972	185679074	1994	2095	594	628
ENST00000504342	2350	698	185678972	185679074	1915	2016	594	628
ENST00000515030	3965	698	185678972	185679074	2109	2210	594	628

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
P33121	125	159	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	125	159	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	125	159	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	125	159	135	135	Glycosylation	Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P33121	125	159	135	135	Glycosylation	Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P33121	125	159	135	135	Glycosylation	Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P33121	125	159	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	125	159	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	125	159	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	252	263	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	252	263	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	252	263	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	252	263	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	252	263	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	252	263	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	305	331	306	331	Alternative sequence	ID=VSP_054391;Note=In isoform 3. NTVNPCPDDTLISFLPLAHMFERVVE->KALPLSASDTHISYLPLAHIYEQLLK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P33121	305	331	306	331	Alternative sequence	ID=VSP_054391;Note=In isoform 3. NTVNPCPDDTLISFLPLAHMFERVVE->KALPLSASDTHISYLPLAHIYEQLLK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P33121	305	331	306	331	Alternative sequence	ID=VSP_054391;Note=In isoform 3. NTVNPCPDDTLISFLPLAHMFERVVE->KALPLSASDTHISYLPLAHIYEQLLK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P33121	305	331	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	305	331	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	305	331	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	305	331	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	305	331	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	305	331	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	421	453	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	421	453	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	421	453	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	421	453	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	421	453	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	421	453	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	594	628	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	594	628	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	594	628	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	594	628	620	620	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P33121	594	628	620	620	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P33121	594	628	620	620	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P33121	594	628	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	594	628	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	594	628	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
P33121	125	159	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	125	159	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	125	159	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	125	159	135	135	Glycosylation	Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P33121	125	159	135	135	Glycosylation	Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P33121	125	159	135	135	Glycosylation	Note=O-linked (GlcNAc) serine;Ontology_term=ECO:0000250;evidence=ECO:0000250
P33121	125	159	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	125	159	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	125	159	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	252	263	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	252	263	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	252	263	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	252	263	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	252	263	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	252	263	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	305	331	306	331	Alternative sequence	ID=VSP_054391;Note=In isoform 3. NTVNPCPDDTLISFLPLAHMFERVVE->KALPLSASDTHISYLPLAHIYEQLLK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P33121	305	331	306	331	Alternative sequence	ID=VSP_054391;Note=In isoform 3. NTVNPCPDDTLISFLPLAHMFERVVE->KALPLSASDTHISYLPLAHIYEQLLK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P33121	305	331	306	331	Alternative sequence	ID=VSP_054391;Note=In isoform 3. NTVNPCPDDTLISFLPLAHMFERVVE->KALPLSASDTHISYLPLAHIYEQLLK;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P33121	305	331	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	305	331	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	305	331	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	305	331	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	305	331	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	305	331	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	421	453	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	421	453	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	421	453	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	421	453	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	421	453	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	421	453	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	594	628	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	594	628	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	594	628	1	698	Chain	ID=PRO_0000193104;Note=Long-chain-fatty-acid--CoA ligase 1
P33121	594	628	620	620	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P33121	594	628	620	620	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P33121	594	628	620	620	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24275569;Dbxref=PMID:24275569
P33121	594	628	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	594	628	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P33121	594	628	46	698	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for ACSL1

- 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.

ACSL1_BRCA_exon_skip_433327_psi_boxplot.png
boxplot

- 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
BRCA	TCGA-D8-A27H-01	exon_skip_433327	185687045	185687140	185687030	185687045	Frame_Shift_Del	TGACATCCACCTCACC	-	p.Q453fs
PRAD	TCGA-KK-A59V-01	exon_skip_433337	185697638	185697816	185697797	185697797	Frame_Shift_Del	A	-	p.F199fs
PRAD	TCGA-KK-A59V-01	exon_skip_433337	185697638	185697816	185697797	185697797	Frame_Shift_Del	A	-	p.V200fs
LIHC	TCGA-DD-A39Y-01	exon_skip_433348	185724474	185724700	185724525	185724525	Frame_Shift_Del	G	-	p.P48fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_433348	185724474	185724700	185724581	185724581	Frame_Shift_Del	G	-	p.L30fs
OV	TCGA-04-1361-01	exon_skip_433326	185678973	185679074	185679025	185679025	Nonsense_Mutation	C	T	p.W611*
UCS	TCGA-ND-A4WC-01	exon_skip_433337	185697638	185697816	185697685	185697685	Nonsense_Mutation	G	A	p.R237*
UCS	TCGA-ND-A4WC-01	exon_skip_433337	185697638	185697816	185697685	185697685	Nonsense_Mutation	G	A	p.R237X
COAD	TCGA-A6-6141-01	exon_skip_433348	185724474	185724700	185724638	185724638	Nonsense_Mutation	G	A	p.R11X
UCEC	TCGA-AX-A05Z-01	exon_skip_433348	185724474	185724700	185724638	185724638	Nonsense_Mutation	G	A	p.R11*
UCEC	TCGA-AX-A0J0-01	exon_skip_433348	185724474	185724700	185724638	185724638	Nonsense_Mutation	G	A	p.R11*
KIRP	TCGA-BQ-7048-01	exon_skip_433348	185724474	185724700	185724472	185724472	Splice_Site	A	T	p.A65_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-D8-A27H-01
	Cancer type: BRCA
	ESID: exon_skip_433327
	Skipped exon start: 185687045
	Skipped exon end: 185687140
	Mutation start: 185687030
	Mutation end: 185687045
	Mutation type: Frame_Shift_Del
	Reference seq: TGACATCCACCTCACC
	Mutation seq: -
	AAchange: p.Q453fs
exon_skip_286384_BRCA_TCGA-D8-A27H-01.png
exon_skip_433327_BRCA_TCGA-D8-A27H-01.png

- 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
HT3_CERVIX	185678973	185679074	185679001	185679001	Missense_Mutation	C	T	p.G619E
SW780_URINARY_TRACT	185678973	185679074	185679010	185679010	Missense_Mutation	C	A	p.G616V
CAL62_THYROID	185678973	185679074	185679050	185679050	Missense_Mutation	G	T	p.P603T
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	185687045	185687140	185687073	185687073	Missense_Mutation	G	A	p.T444M
HCC2450_LUNG	185694235	185694308	185694252	185694252	Missense_Mutation	A	C	p.F300V
SNUC2B_LARGE_INTESTINE	185697638	185697816	185697647	185697647	Missense_Mutation	C	A	p.K249N
ARH77_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	185697638	185697816	185697653	185697653	Missense_Mutation	G	C	p.S247R
JHUEM7_ENDOMETRIUM	185697638	185697816	185697741	185697741	Missense_Mutation	A	C	p.I218R
SKMEL31_SKIN	185705081	185705145	185705122	185705122	Missense_Mutation	G	A	p.R112W
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	185724474	185724700	185724532	185724532	Missense_Mutation	G	A	p.T46M
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	185724474	185724700	185724532	185724532	Missense_Mutation	G	A	p.T46M
INA6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	185724474	185724700	185724547	185724547	Missense_Mutation	G	T	p.T41N
WM1552C_SKIN	185687045	185687140	185687139	185687139	Splice_Site	G	C	p.S422W
A375_SKIN	185691553	185691630	185691630	185691630	Splice_Site	T	G	p.N306H

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ACSL1

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
exon_skip_433340	4	185698037:185698137:185701485:185701587:185705080:185705145	185701485:185701587	ENST00000454703.2,ENST00000506733.1,ENST00000437665.3,ENST00000281455.2,ENST00000504900.1,ENST00000513317.1,ENST00000504342.1,ENST00000515030.1	HNSC	rs1803898	chr4:185701549	G/T	1.23e-04
exon_skip_433340	4	185698037:185698137:185701485:185701587:185705080:185705145	185701485:185701587	ENST00000454703.2,ENST00000506733.1,ENST00000437665.3,ENST00000281455.2,ENST00000504900.1,ENST00000513317.1,ENST00000504342.1,ENST00000515030.1	BRCA	rs1803898	chr4:185701549	G/T	1.53e-04
exon_skip_433340	4	185698037:185698137:185701485:185701587:185705080:185705145	185701485:185701587	ENST00000454703.2,ENST00000506733.1,ENST00000437665.3,ENST00000281455.2,ENST00000504900.1,ENST00000513317.1,ENST00000504342.1,ENST00000515030.1	KIRC	rs1803898	chr4:185701549	G/T	8.63e-04
exon_skip_433340	4	185698037:185698137:185701485:185701587:185705080:185705145	185701485:185701587	ENST00000454703.2,ENST00000506733.1,ENST00000437665.3,ENST00000281455.2,ENST00000504900.1,ENST00000513317.1,ENST00000504342.1,ENST00000515030.1	PRAD	rs1803898	chr4:185701549	G/T	1.02e-08
exon_skip_433340	4	185698037:185698137:185701485:185701587:185705080:185705145	185701485:185701587	ENST00000454703.2,ENST00000506733.1,ENST00000437665.3,ENST00000281455.2,ENST00000504900.1,ENST00000513317.1,ENST00000504342.1,ENST00000515030.1	STAD	rs1803898	chr4:185701549	G/T	2.53e-06

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACSL1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACSL1

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RelatedDrugs for ACSL1

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 ACSL1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ACSL1	C0011853	Diabetes Mellitus, Experimental	1	CTD_human
ACSL1	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
ACSL1	C0024667	Animal Mammary Neoplasms	1	CTD_human
ACSL1	C0024668	Mammary Neoplasms, Experimental	1	CTD_human
ACSL1	C0028754	Obesity	1	CTD_human
ACSL1	C0993582	Arthritis, Experimental	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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