ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ACADVL

Gene summary

Gene information	Gene symbol	ACADVL
	Gene ID	37
	Gene name	acyl-CoA dehydrogenase very long chain
	Synonyms	ACAD6\|LCACD\|VLCAD
	Cytomap	17p13.1
	Type of gene	protein-coding
	Description	very long-chain specific acyl-CoA dehydrogenase, mitochondrialacyl-Coenzyme A dehydrogenase, very long chain
	Modification date	20180523
	UniProtAcc	P49748
	Context	PubMed: ACADVL [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
ACADVL	GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	7668252

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Exon skipping events across known transcript of Ensembl for ACADVL 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 ACADVL

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 ACADVL

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_148486	17	7123499:7123516:7123782:7123848:7123922:7123995	7123782:7123848	ENSG00000072778.15	ENST00000583312.1,ENST00000581562.1,ENST00000356839.5,ENST00000543245.2,ENST00000322910.5,ENST00000584103.1,ENST00000582056.1,ENST00000577191.1
exon_skip_148487	17	7123499:7123516:7123782:7123995:7124084:7124149	7123782:7123995	ENSG00000072778.15	ENST00000582356.1,ENST00000579286.1
exon_skip_148489	17	7123499:7123516:7123922:7123995:7124084:7124149	7123922:7123995	ENSG00000072778.15	ENST00000350303.5
exon_skip_148491	17	7124108:7124149:7124242:7124377:7124856:7124948	7124242:7124377	ENSG00000072778.15	ENST00000583312.1,ENST00000579286.1,ENST00000356839.5,ENST00000543245.2,ENST00000322910.5,ENST00000580365.1,ENST00000350303.5,ENST00000577191.1,ENST00000577433.1
exon_skip_148492	17	7124108:7124149:7124242:7124377:7125270:7125275	7124242:7124377	ENSG00000072778.15	ENST00000581562.1
exon_skip_148497	17	7124108:7124149:7124856:7125001:7125270:7125275	7124856:7125001	ENSG00000072778.15	ENST00000577857.1
exon_skip_148507	17	7124246:7124377:7124837:7125001:7125270:7125275	7124837:7125001	ENSG00000072778.15	ENST00000581378.1
exon_skip_148508	17	7124263:7124377:7124856:7125001:7125270:7125275	7124856:7125001	ENSG00000072778.15	ENST00000579286.1,ENST00000356839.5,ENST00000543245.2,ENST00000322910.5,ENST00000580365.1,ENST00000350303.5,ENST00000579886.2,ENST00000577191.1
exon_skip_148516	17	7125495:7125621:7125985:7126184:7126451:7126556	7125985:7126184	ENSG00000072778.15	ENST00000356839.5,ENST00000543245.2,ENST00000322910.5,ENST00000350303.5
exon_skip_148520	17	7126078:7126184:7126451:7126556:7126962:7127049	7126451:7126556	ENSG00000072778.15	ENST00000356839.5,ENST00000543245.2,ENST00000322910.5,ENST00000350303.5,ENST00000583858.1
exon_skip_148526	17	7126537:7126556:7126740:7127049:7127131:7127146	7126740:7127049	ENSG00000072778.15	ENST00000578579.2
exon_skip_148529	17	7126537:7126556:7126962:7127049:7127131:7127146	7126962:7127049	ENSG00000072778.15	ENST00000578824.1,ENST00000542255.2,ENST00000356839.5,ENST00000543245.2,ENST00000322910.5,ENST00000579425.1,ENST00000579546.1,ENST00000350303.5,ENST00000583858.1,ENST00000585203.2
exon_skip_148534	17	7127005:7127049:7127131:7127177:7127286:7127388	7127131:7127177	ENSG00000072778.15	ENST00000585203.2
exon_skip_148535	17	7127005:7127049:7127131:7127194:7127286:7127388	7127131:7127194	ENSG00000072778.15	ENST00000542255.2,ENST00000356839.5,ENST00000583850.1,ENST00000543245.2,ENST00000322910.5,ENST00000579546.1,ENST00000350303.5,ENST00000583858.1
exon_skip_148546	17	7127286:7127388:7127464:7127562:7127639:7127709	7127464:7127562	ENSG00000072778.15	ENST00000542255.2,ENST00000356839.5,ENST00000583850.1,ENST00000543245.2,ENST00000322910.5,ENST00000579425.1,ENST00000350303.5,ENST00000585203.2
exon_skip_148549	17	7127807:7127871:7127960:7128033:7128127:7128132	7127960:7128033	ENSG00000072778.15	ENST00000578319.1,ENST00000356839.5,ENST00000583850.1,ENST00000543245.2,ENST00000322910.5,ENST00000579425.1,ENST00000579546.1,ENST00000350303.5,ENST00000578809.1,ENST00000583858.1,ENST00000585203.2
exon_skip_148552	17	7127807:7127871:7127980:7128033:7128127:7128132	7127980:7128033	ENSG00000072778.15	ENST00000583848.1
exon_skip_148554	17	7127807:7127871:7128033:7128203:7128275:7128295	7128033:7128203	ENSG00000072778.15	ENST00000542255.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ACADVL

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_148486	17	7123499:7123516:7123782:7123848:7123922:7123995	7123782:7123848	ENSG00000072778.15	ENST00000543245.2,ENST00000356839.5,ENST00000322910.5,ENST00000583312.1,ENST00000582056.1,ENST00000584103.1,ENST00000577191.1,ENST00000581562.1
exon_skip_148487	17	7123499:7123516:7123782:7123995:7124084:7124149	7123782:7123995	ENSG00000072778.15	ENST00000582356.1,ENST00000579286.1
exon_skip_148489	17	7123499:7123516:7123922:7123995:7124084:7124149	7123922:7123995	ENSG00000072778.15	ENST00000350303.5
exon_skip_148491	17	7124108:7124149:7124242:7124377:7124856:7124948	7124242:7124377	ENSG00000072778.15	ENST00000543245.2,ENST00000356839.5,ENST00000322910.5,ENST00000583312.1,ENST00000350303.5,ENST00000579286.1,ENST00000577191.1,ENST00000577433.1,ENST00000580365.1
exon_skip_148492	17	7124108:7124149:7124242:7124377:7125270:7125275	7124242:7124377	ENSG00000072778.15	ENST00000581562.1
exon_skip_148497	17	7124108:7124149:7124856:7125001:7125270:7125275	7124856:7125001	ENSG00000072778.15	ENST00000577857.1
exon_skip_148507	17	7124246:7124377:7124837:7125001:7125270:7125275	7124837:7125001	ENSG00000072778.15	ENST00000581378.1
exon_skip_148508	17	7124263:7124377:7124856:7125001:7125270:7125275	7124856:7125001	ENSG00000072778.15	ENST00000543245.2,ENST00000356839.5,ENST00000322910.5,ENST00000350303.5,ENST00000579286.1,ENST00000577191.1,ENST00000579886.2,ENST00000580365.1
exon_skip_148516	17	7125495:7125621:7125985:7126184:7126451:7126556	7125985:7126184	ENSG00000072778.15	ENST00000543245.2,ENST00000356839.5,ENST00000322910.5,ENST00000350303.5
exon_skip_148520	17	7126078:7126184:7126451:7126556:7126962:7127049	7126451:7126556	ENSG00000072778.15	ENST00000543245.2,ENST00000356839.5,ENST00000322910.5,ENST00000350303.5,ENST00000583858.1
exon_skip_148526	17	7126537:7126556:7126740:7127049:7127131:7127146	7126740:7127049	ENSG00000072778.15	ENST00000578579.2
exon_skip_148529	17	7126537:7126556:7126962:7127049:7127131:7127146	7126962:7127049	ENSG00000072778.15	ENST00000543245.2,ENST00000356839.5,ENST00000322910.5,ENST00000350303.5,ENST00000578824.1,ENST00000583858.1,ENST00000585203.2,ENST00000579425.1,ENST00000542255.2,ENST00000579546.1
exon_skip_148534	17	7127005:7127049:7127131:7127177:7127286:7127388	7127131:7127177	ENSG00000072778.15	ENST00000585203.2
exon_skip_148535	17	7127005:7127049:7127131:7127194:7127286:7127388	7127131:7127194	ENSG00000072778.15	ENST00000543245.2,ENST00000356839.5,ENST00000322910.5,ENST00000350303.5,ENST00000583858.1,ENST00000542255.2,ENST00000579546.1,ENST00000583850.1
exon_skip_148546	17	7127286:7127388:7127464:7127562:7127639:7127709	7127464:7127562	ENSG00000072778.15	ENST00000543245.2,ENST00000356839.5,ENST00000322910.5,ENST00000350303.5,ENST00000585203.2,ENST00000579425.1,ENST00000542255.2,ENST00000583850.1
exon_skip_148549	17	7127807:7127871:7127960:7128033:7128127:7128132	7127960:7128033	ENSG00000072778.15	ENST00000543245.2,ENST00000356839.5,ENST00000322910.5,ENST00000350303.5,ENST00000583858.1,ENST00000585203.2,ENST00000579425.1,ENST00000579546.1,ENST00000583850.1,ENST00000578809.1,ENST00000578319.1
exon_skip_148552	17	7127807:7127871:7127980:7128033:7128127:7128132	7127980:7128033	ENSG00000072778.15	ENST00000583848.1
exon_skip_148554	17	7127807:7127871:7128033:7128203:7128275:7128295	7128033:7128203	ENSG00000072778.15	ENST00000542255.2

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 ACADVL

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
ENST00000356839	7124856	7125001	Frame-shift
ENST00000356839	7125985	7126184	Frame-shift
ENST00000356839	7127464	7127562	Frame-shift
ENST00000356839	7127960	7128033	Frame-shift
ENST00000356839	7123782	7123848	In-frame
ENST00000356839	7124242	7124377	In-frame
ENST00000356839	7126451	7126556	In-frame
ENST00000356839	7126962	7127049	In-frame
ENST00000356839	7127131	7127194	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
ENST00000356839	7124856	7125001	Frame-shift
ENST00000356839	7125985	7126184	Frame-shift
ENST00000356839	7127464	7127562	Frame-shift
ENST00000356839	7127960	7128033	Frame-shift
ENST00000356839	7123782	7123848	In-frame
ENST00000356839	7124242	7124377	In-frame
ENST00000356839	7126451	7126556	In-frame
ENST00000356839	7126962	7127049	In-frame
ENST00000356839	7127131	7127194	In-frame

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

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
ENST00000356839	2340	655	7123782	7123848	318	383	46	68
ENST00000356839	2340	655	7124242	7124377	522	656	114	159
ENST00000356839	2340	655	7126451	7126556	1257	1361	359	394
ENST00000356839	2340	655	7126962	7127049	1362	1448	394	423
ENST00000356839	2340	655	7127131	7127194	1449	1511	423	444

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
ENST00000356839	2340	655	7123782	7123848	318	383	46	68
ENST00000356839	2340	655	7124242	7124377	522	656	114	159
ENST00000356839	2340	655	7126451	7126556	1257	1361	359	394
ENST00000356839	2340	655	7126962	7127049	1362	1448	394	423
ENST00000356839	2340	655	7127131	7127194	1449	1511	423	444

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
P49748	46	68	47	68	Alternative sequence	ID=VSP_007734;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P49748	46	68	41	655	Chain	ID=PRO_0000000515;Note=Very long-chain specific acyl-CoA dehydrogenase%2C mitochondrial
P49748	46	68	51	51	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P50544
P49748	46	68	65	65	Natural variant	ID=VAR_048176;Note=P->L;Dbxref=dbSNP:rs28934585
P49748	46	68	41	482	Region	Note=Catalytic
P49748	114	159	41	655	Chain	ID=PRO_0000000515;Note=Very long-chain specific acyl-CoA dehydrogenase%2C mitochondrial
P49748	114	159	96	115	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	114	159	119	125	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	114	159	130	138	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	114	159	148	150	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	114	159	157	170	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	114	159	130	130	Natural variant	ID=VAR_000331;Note=In ACADVLD. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10077518,ECO:0000269\|PubMed:8554073;Dbxref=PMID:10077518,PMID:8554073
P49748	114	159	158	158	Natural variant	ID=VAR_000332;Note=In ACADVLD. T->N
P49748	114	159	159	159	Natural variant	ID=VAR_000333;Note=In ACADVLD. Q->R;Dbxref=dbSNP:rs746688190
P49748	114	159	41	482	Region	Note=Catalytic
P49748	114	159	139	142	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	359	394	366	366	Binding site	Note=FAD;Ontology_term=ECO:0000250;evidence=ECO:0000250
P49748	359	394	41	655	Chain	ID=PRO_0000000515;Note=Very long-chain specific acyl-CoA dehydrogenase%2C mitochondrial
P49748	359	394	329	365	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	359	394	373	375	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	359	394	377	405	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	359	394	372	372	Modified residue	Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P50544
P49748	359	394	359	359	Natural variant	ID=VAR_011990;Note=A->S;Dbxref=dbSNP:rs1051701
P49748	359	394	366	366	Natural variant	ID=VAR_000349;Note=In ACADVLD. R->C;Dbxref=dbSNP:rs771874163
P49748	359	394	366	366	Natural variant	ID=VAR_000350;Note=In ACADVLD. R->H;Dbxref=dbSNP:rs112406105
P49748	359	394	381	381	Natural variant	ID=VAR_000351;Note=In ACADVLD. Missing
P49748	359	394	382	382	Natural variant	ID=VAR_000352;Note=In ACADVLD. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8554073;Dbxref=dbSNP:rs118204015,PMID:8554073
P49748	359	394	41	482	Region	Note=Catalytic
P49748	394	423	41	655	Chain	ID=PRO_0000000515;Note=Very long-chain specific acyl-CoA dehydrogenase%2C mitochondrial
P49748	394	423	377	405	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	394	423	412	437	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	394	423	405	405	Natural variant	ID=VAR_000353;Note=In ACADVLD. D->H
P49748	394	423	41	482	Region	Note=Catalytic
P49748	423	444	41	655	Chain	ID=PRO_0000000515;Note=Very long-chain specific acyl-CoA dehydrogenase%2C mitochondrial
P49748	423	444	412	437	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	423	444	439	442	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	423	444	441	441	Natural variant	ID=VAR_000354;Note=In ACADVLD. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10077518;Dbxref=dbSNP:rs2309689,PMID:10077518
P49748	423	444	435	439	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000250;evidence=ECO:0000250
P49748	423	444	41	482	Region	Note=Catalytic

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
P49748	46	68	47	68	Alternative sequence	ID=VSP_007734;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15489334;Dbxref=PMID:15489334
P49748	46	68	41	655	Chain	ID=PRO_0000000515;Note=Very long-chain specific acyl-CoA dehydrogenase%2C mitochondrial
P49748	46	68	51	51	Modified residue	Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P50544
P49748	46	68	65	65	Natural variant	ID=VAR_048176;Note=P->L;Dbxref=dbSNP:rs28934585
P49748	46	68	41	482	Region	Note=Catalytic
P49748	114	159	41	655	Chain	ID=PRO_0000000515;Note=Very long-chain specific acyl-CoA dehydrogenase%2C mitochondrial
P49748	114	159	96	115	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	114	159	119	125	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	114	159	130	138	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	114	159	148	150	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	114	159	157	170	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	114	159	130	130	Natural variant	ID=VAR_000331;Note=In ACADVLD. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10077518,ECO:0000269\|PubMed:8554073;Dbxref=PMID:10077518,PMID:8554073
P49748	114	159	158	158	Natural variant	ID=VAR_000332;Note=In ACADVLD. T->N
P49748	114	159	159	159	Natural variant	ID=VAR_000333;Note=In ACADVLD. Q->R;Dbxref=dbSNP:rs746688190
P49748	114	159	41	482	Region	Note=Catalytic
P49748	114	159	139	142	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	359	394	366	366	Binding site	Note=FAD;Ontology_term=ECO:0000250;evidence=ECO:0000250
P49748	359	394	41	655	Chain	ID=PRO_0000000515;Note=Very long-chain specific acyl-CoA dehydrogenase%2C mitochondrial
P49748	359	394	329	365	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	359	394	373	375	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	359	394	377	405	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	359	394	372	372	Modified residue	Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P50544
P49748	359	394	359	359	Natural variant	ID=VAR_011990;Note=A->S;Dbxref=dbSNP:rs1051701
P49748	359	394	366	366	Natural variant	ID=VAR_000349;Note=In ACADVLD. R->C;Dbxref=dbSNP:rs771874163
P49748	359	394	366	366	Natural variant	ID=VAR_000350;Note=In ACADVLD. R->H;Dbxref=dbSNP:rs112406105
P49748	359	394	381	381	Natural variant	ID=VAR_000351;Note=In ACADVLD. Missing
P49748	359	394	382	382	Natural variant	ID=VAR_000352;Note=In ACADVLD. K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:8554073;Dbxref=dbSNP:rs118204015,PMID:8554073
P49748	359	394	41	482	Region	Note=Catalytic
P49748	394	423	41	655	Chain	ID=PRO_0000000515;Note=Very long-chain specific acyl-CoA dehydrogenase%2C mitochondrial
P49748	394	423	377	405	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	394	423	412	437	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	394	423	405	405	Natural variant	ID=VAR_000353;Note=In ACADVLD. D->H
P49748	394	423	41	482	Region	Note=Catalytic
P49748	423	444	41	655	Chain	ID=PRO_0000000515;Note=Very long-chain specific acyl-CoA dehydrogenase%2C mitochondrial
P49748	423	444	412	437	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	423	444	439	442	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2UXW
P49748	423	444	441	441	Natural variant	ID=VAR_000354;Note=In ACADVLD. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10077518;Dbxref=dbSNP:rs2309689,PMID:10077518
P49748	423	444	435	439	Nucleotide binding	Note=FAD;Ontology_term=ECO:0000250;evidence=ECO:0000250
P49748	423	444	41	482	Region	Note=Catalytic

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SNVs in the skipped exons for ACADVL

- 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.

ACADVL_COAD_exon_skip_148534_psi_boxplot.png
boxplot

ACADVL_COAD_exon_skip_148535_psi_boxplot.png
boxplot

ACADVL_HNSC_exon_skip_148534_psi_boxplot.png
boxplot

ACADVL_HNSC_exon_skip_148535_psi_boxplot.png
boxplot

ACADVL_READ_exon_skip_148535_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
CHOL	TCGA-W5-AA39-01	exon_skip_148508 exon_skip_148507 exon_skip_148497	7124838	7125001	7124970	7124983	Frame_Shift_Del	GAAAGAAAAATACC	-	p.220_224del
CHOL	TCGA-W5-AA39-01	exon_skip_148508 exon_skip_148507 exon_skip_148497	7124838	7125001	7124970	7124983	Frame_Shift_Del	GAAAGAAAAATACC	-	p.QKEKYL197fs
CHOL	TCGA-W5-AA39-01	exon_skip_148508 exon_skip_148507 exon_skip_148497	7124857	7125001	7124970	7124983	Frame_Shift_Del	GAAAGAAAAATACC	-	p.220_224del
CHOL	TCGA-W5-AA39-01	exon_skip_148508 exon_skip_148507 exon_skip_148497	7124857	7125001	7124970	7124983	Frame_Shift_Del	GAAAGAAAAATACC	-	p.QKEKYL197fs
COAD	TCGA-AM-5820-01	exon_skip_148534	7127132	7127177	7127173	7127173	Frame_Shift_Del	G	-	p.M437fs
COAD	TCGA-AM-5820-01	exon_skip_148535	7127132	7127194	7127173	7127173	Frame_Shift_Del	G	-	p.M437fs
COAD	TCGA-G4-6309-01	exon_skip_148534	7127132	7127177	7127173	7127173	Frame_Shift_Del	G	-	p.M437fs
COAD	TCGA-G4-6309-01	exon_skip_148535	7127132	7127194	7127173	7127173	Frame_Shift_Del	G	-	p.M437fs
READ	TCGA-EI-6882-01	exon_skip_148534	7127132	7127177	7127173	7127173	Frame_Shift_Del	G	-	p.M437fs
READ	TCGA-EI-6882-01	exon_skip_148535	7127132	7127194	7127173	7127173	Frame_Shift_Del	G	-	p.M437fs
SKCM	TCGA-GN-A266-06	exon_skip_148520	7126452	7126556	7126487	7126488	Frame_Shift_Ins	-	A	p.E371fs
SKCM	TCGA-GN-A266-06	exon_skip_148520	7126452	7126556	7126487	7126488	Frame_Shift_Ins	-	A	p.N372fs
BLCA	TCGA-4Z-AA89-01	exon_skip_148516	7125986	7126184	7126021	7126021	Nonsense_Mutation	C	G	p.S305*
LIHC	TCGA-DD-A39Y-01	exon_skip_148489	7123923	7123995	7123922	7123922	Splice_Site	G	A	.
HNSC	TCGA-CR-7368-01	exon_skip_148534	7127132	7127177	7127131	7127131	Splice_Site	G	A	p.E424_splice
HNSC	TCGA-CR-7368-01	exon_skip_148535	7127132	7127194	7127131	7127131	Splice_Site	G	A	p.E424_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CR-7368-01
	Cancer type: HNSC
	ESID: exon_skip_148535
	Skipped exon start: 7127132
	Skipped exon end: 7127194
	Mutation start: 7127131
	Mutation end: 7127131
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: A
	AAchange: p.E424_splice
	Sample: TCGA-CR-7368-01
	Cancer type: HNSC
	ESID: exon_skip_148534
	Skipped exon start: 7127132
	Skipped exon end: 7127177
	Mutation start: 7127131
	Mutation end: 7127131
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: A
	AAchange: p.E424_splice
exon_skip_148534_HNSC_TCGA-CR-7368-01.png
exon_skip_148535_HNSC_TCGA-CR-7368-01.png
	Sample: TCGA-CR-7368-01
	Cancer type: HNSC
	ESID: exon_skip_148535
	Skipped exon start: 7127132
	Skipped exon end: 7127194
	Mutation start: 7127131
	Mutation end: 7127131
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: A
	AAchange: p.E424_splice
	Sample: TCGA-CR-7368-01
	Cancer type: HNSC
	ESID: exon_skip_148534
	Skipped exon start: 7127132
	Skipped exon end: 7127177
	Mutation start: 7127131
	Mutation end: 7127131
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: A
	AAchange: p.E424_splice
exon_skip_148534_HNSC_TCGA-CR-7368-01.png
exon_skip_148535_HNSC_TCGA-CR-7368-01.png
	Sample: TCGA-W5-AA39-01
	Cancer type: CHOL
	ESID: exon_skip_148497
	Skipped exon start: 7124857
	Skipped exon end: 7125001
	Mutation start: 7124970
	Mutation end: 7124983
	Mutation type: Frame_Shift_Del
	Reference seq: GAAAGAAAAATACC
	Mutation seq: -
	AAchange: p.QKEKYL197fs
	Sample: TCGA-W5-AA39-01
	Cancer type: CHOL
	ESID: exon_skip_148497
	Skipped exon start: 7124838
	Skipped exon end: 7125001
	Mutation start: 7124970
	Mutation end: 7124983
	Mutation type: Frame_Shift_Del
	Reference seq: GAAAGAAAAATACC
	Mutation seq: -
	AAchange: p.QKEKYL197fs
	Sample: TCGA-W5-AA39-01
	Cancer type: CHOL
	ESID: exon_skip_148497
	Skipped exon start: 7124857
	Skipped exon end: 7125001
	Mutation start: 7124970
	Mutation end: 7124983
	Mutation type: Frame_Shift_Del
	Reference seq: GAAAGAAAAATACC
	Mutation seq: -
	AAchange: p.220_224del
	Sample: TCGA-W5-AA39-01
	Cancer type: CHOL
	ESID: exon_skip_148497
	Skipped exon start: 7124838
	Skipped exon end: 7125001
	Mutation start: 7124970
	Mutation end: 7124983
	Mutation type: Frame_Shift_Del
	Reference seq: GAAAGAAAAATACC
	Mutation seq: -
	AAchange: p.220_224del
exon_skip_148507_CHOL_TCGA-W5-AA39-01.png
exon_skip_26206_CHOL_TCGA-W5-AA39-01.png
exon_skip_300665_CHOL_TCGA-W5-AA39-01.png
exon_skip_94118_CHOL_TCGA-W5-AA39-01.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
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7124857	7125001	7124961	7124961	Frame_Shift_Del	A	-	p.T194fs
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7124838	7125001	7124961	7124961	Frame_Shift_Del	A	-	p.T194fs
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7128034	7128203	7128155	7128155	Frame_Shift_Del	C	-	p.H593fs
MFE319_ENDOMETRIUM	7127132	7127194	7127172	7127173	Frame_Shift_Ins	-	G	p.MG437fs
MFE319_ENDOMETRIUM	7127132	7127177	7127172	7127173	Frame_Shift_Ins	-	G	p.MG437fs
SNU1040_LARGE_INTESTINE	7123923	7123995	7123950	7123950	Missense_Mutation	T	C	p.F78L
SNU1040_LARGE_INTESTINE	7123783	7123995	7123950	7123950	Missense_Mutation	T	C	p.F78L
RKO_LARGE_INTESTINE	7123923	7123995	7123975	7123975	Missense_Mutation	A	G	p.Q86R
RKO_LARGE_INTESTINE	7123783	7123995	7123975	7123975	Missense_Mutation	A	G	p.Q86R
CW2_LARGE_INTESTINE	7124857	7125001	7124860	7124860	Missense_Mutation	G	A	p.A161T
CW2_LARGE_INTESTINE	7124838	7125001	7124860	7124860	Missense_Mutation	G	A	p.A161T
JHH5_LIVER	7124857	7125001	7124893	7124893	Missense_Mutation	C	T	p.L172F
JHH5_LIVER	7124838	7125001	7124893	7124893	Missense_Mutation	C	T	p.L172F
YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7124857	7125001	7124932	7124932	Missense_Mutation	G	A	p.G185S
YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7124838	7125001	7124932	7124932	Missense_Mutation	G	A	p.G185S
HT3_CERVIX	7124857	7125001	7124937	7124937	Missense_Mutation	C	G	p.F186L
HT3_CERVIX	7124838	7125001	7124937	7124937	Missense_Mutation	C	G	p.F186L
COLO668_LUNG	7125986	7126184	7126135	7126135	Missense_Mutation	G	A	p.G343D
LNCAPCLONEFGC_PROSTATE	7126452	7126556	7126551	7126551	Missense_Mutation	A	G	p.T393A
NCIH661_LUNG	7126741	7127049	7126978	7126978	Missense_Mutation	G	A	p.V400M
NCIH661_LUNG	7126963	7127049	7126978	7126978	Missense_Mutation	G	A	p.V400M
OCILY7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7126741	7127049	7126978	7126978	Missense_Mutation	G	C	p.V400L
OCILY7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7126963	7127049	7126978	7126978	Missense_Mutation	G	C	p.V400L
TE4_OESOPHAGUS	7126741	7127049	7127006	7127006	Missense_Mutation	C	T	p.T409M
TE4_OESOPHAGUS	7126963	7127049	7127006	7127006	Missense_Mutation	C	T	p.T409M
NO11_CENTRAL_NERVOUS_SYSTEM	7127465	7127562	7127528	7127528	Missense_Mutation	C	G	p.L500V
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7127961	7128033	7128003	7128003	Missense_Mutation	A	G	p.D574G
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7127981	7128033	7128003	7128003	Missense_Mutation	A	G	p.D574G
LS411N_LARGE_INTESTINE	7127961	7128033	7128009	7128009	Missense_Mutation	A	G	p.Y576C
LS411N_LARGE_INTESTINE	7127981	7128033	7128009	7128009	Missense_Mutation	A	G	p.Y576C
SAOS2_BONE	7125986	7126184	7126047	7126047	Nonsense_Mutation	G	T	p.G314*
NUGC4_STOMACH	7123923	7123995	7123995	7123995	Splice_Site	G	T	p.V93L
NUGC4_STOMACH	7123783	7123995	7123995	7123995	Splice_Site	G	T	p.V93L
769P_KIDNEY	7123923	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
769P_KIDNEY	7123783	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
EFO21_OVARY	7123923	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
EFO21_OVARY	7123783	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
GMS10_CENTRAL_NERVOUS_SYSTEM	7123923	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
GMS10_CENTRAL_NERVOUS_SYSTEM	7123783	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
HCC1937_BREAST	7123923	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
HCC1937_BREAST	7123783	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
HS578T_BREAST	7123923	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
HS578T_BREAST	7123783	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
HS821T_FIBROBLAST	7123923	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
HS821T_FIBROBLAST	7123783	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
HS840T_FIBROBLAST	7123923	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
HS840T_FIBROBLAST	7123783	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
HUPT3_PANCREAS	7123923	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
HUPT3_PANCREAS	7123783	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7123923	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7123783	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
NCIH716_LARGE_INTESTINE	7123923	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
NCIH716_LARGE_INTESTINE	7123783	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
RL952_ENDOMETRIUM	7123923	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
RL952_ENDOMETRIUM	7123783	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
SW1783_CENTRAL_NERVOUS_SYSTEM	7123923	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
SW1783_CENTRAL_NERVOUS_SYSTEM	7123783	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
T3M4_PANCREAS	7123923	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
T3M4_PANCREAS	7123783	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
TCCSUP_URINARY_TRACT	7123923	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
TCCSUP_URINARY_TRACT	7123783	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
TOV112D_OVARY	7123923	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs
TOV112D_OVARY	7123783	7123995	7123995	7124083	Splice_Site	GGTAAGGGAAGGGATAATCAGAGCTGGGTGGGGCCAGGGTGGTTTCCCCTGCCAGCCTGGCCTGACCAGCCTGTCCCCCACCCTCTGCA	-	p.G93fs

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

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 ACADVL

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

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RelatedDrugs for ACADVL

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 ACADVL

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ACADVL	C3887523	Very long chain acyl-CoA dehydrogenase deficiency	4	CTD_human;ORPHANET;UNIPROT
ACADVL	C0242184	Hypoxia	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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