ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ACSF2

Gene summary

Gene information	Gene symbol	ACSF2
	Gene ID	80221
	Gene name	acyl-CoA synthetase family member 2
	Synonyms	ACSMW\|AVYV493
	Cytomap	17q21.33
	Type of gene	protein-coding
	Description	acyl-CoA synthetase family member 2, mitochondrialPPARG binding, long chain fatty acid acyl Co-A ligase like
	Modification date	20180519
	UniProtAcc	Q96CM8
	Context	PubMed: ACSF2 [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 ACSF2 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 ACSF2

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 ACSF2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_154036	17	48503612:48503750:48504265:48504340:48538037:48538233	48504265:48504340	ENSG00000167107.8	ENST00000427954.2
exon_skip_154039	17	48503612:48503750:48538037:48538233:48538993:48539047	48538037:48538233	ENSG00000167107.8	ENST00000504392.1
exon_skip_154040	17	48538037:48538233:48538602:48538648:48538993:48539047	48538602:48538648	ENSG00000167107.8	ENST00000506582.1
exon_skip_154041	17	48538037:48538233:48538602:48538731:48538993:48539047	48538602:48538731	ENSG00000167107.8	ENST00000427954.2,ENST00000300441.4
exon_skip_154044	17	48538602:48538731:48538993:48539047:48539544:48539663	48538993:48539047	ENSG00000167107.8	ENST00000427954.2,ENST00000300441.4
exon_skip_154047	17	48539544:48539663:48539780:48539946:48540516:48540612	48539780:48539946	ENSG00000167107.8	ENST00000502667.1,ENST00000504392.1,ENST00000510410.1,ENST00000541920.1,ENST00000427954.2,ENST00000300441.4
exon_skip_154052	17	48539896:48539946:48540516:48540612:48540755:48540913	48540516:48540612	ENSG00000167107.8	ENST00000502667.1,ENST00000504392.1,ENST00000510410.1,ENST00000541920.1,ENST00000427954.2,ENST00000300441.4
exon_skip_154054	17	48539896:48539946:48540586:48540612:48540755:48540913	48540586:48540612	ENSG00000167107.8	ENST00000513101.1
exon_skip_154056	17	48540876:48540913:48541178:48541270:48541578:48541655	48541178:48541270	ENSG00000167107.8	ENST00000513101.1,ENST00000502667.1,ENST00000510262.1,ENST00000504392.1,ENST00000510410.1,ENST00000541920.1,ENST00000427954.2,ENST00000300441.4
exon_skip_154061	17	48541178:48541270:48541578:48541655:48541886:48541960	48541578:48541655	ENSG00000167107.8	ENST00000510262.1
exon_skip_154064	17	48541608:48541655:48541886:48541960:48548388:48548426	48541886:48541960	ENSG00000167107.8	ENST00000510262.1,ENST00000508245.1
exon_skip_154072	17	48545719:48545793:48545946:48545999:48548388:48548426	48545946:48545999	ENSG00000167107.8	ENST00000508734.1
exon_skip_154079	17	48548388:48548496:48549788:48549940:48551025:48551121	48549788:48549940	ENSG00000167107.8	ENST00000502667.1,ENST00000512537.1,ENST00000504392.1,ENST00000510410.1,ENST00000541920.1,ENST00000427954.2,ENST00000508245.1,ENST00000300441.4,ENST00000512119.1
exon_skip_154082	17	48551025:48551167:48551254:48551365:48551559:48551617	48551254:48551365	ENSG00000167107.8	ENST00000502667.1,ENST00000511147.1,ENST00000504392.1,ENST00000510410.1,ENST00000541920.1,ENST00000427954.2,ENST00000300441.4,ENST00000506085.1
exon_skip_154083	17	48551254:48551365:48551559:48551628:48551862:48552031	48551559:48551628	ENSG00000167107.8	ENST00000502667.1,ENST00000504392.1,ENST00000510410.1,ENST00000541920.1,ENST00000427954.2,ENST00000300441.4,ENST00000506085.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ACSF2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_154036	17	48503612:48503750:48504265:48504340:48538037:48538233	48504265:48504340	ENSG00000167107.8	ENST00000427954.2
exon_skip_154039	17	48503612:48503750:48538037:48538233:48538993:48539047	48538037:48538233	ENSG00000167107.8	ENST00000504392.1
exon_skip_154040	17	48538037:48538233:48538602:48538648:48538993:48539047	48538602:48538648	ENSG00000167107.8	ENST00000506582.1
exon_skip_154041	17	48538037:48538233:48538602:48538731:48538993:48539047	48538602:48538731	ENSG00000167107.8	ENST00000300441.4,ENST00000427954.2
exon_skip_154044	17	48538602:48538731:48538993:48539047:48539544:48539663	48538993:48539047	ENSG00000167107.8	ENST00000300441.4,ENST00000427954.2
exon_skip_154047	17	48539544:48539663:48539780:48539946:48540516:48540612	48539780:48539946	ENSG00000167107.8	ENST00000510410.1,ENST00000300441.4,ENST00000541920.1,ENST00000504392.1,ENST00000427954.2,ENST00000502667.1
exon_skip_154052	17	48539896:48539946:48540516:48540612:48540755:48540913	48540516:48540612	ENSG00000167107.8	ENST00000510410.1,ENST00000300441.4,ENST00000541920.1,ENST00000504392.1,ENST00000427954.2,ENST00000502667.1
exon_skip_154054	17	48539896:48539946:48540586:48540612:48540755:48540913	48540586:48540612	ENSG00000167107.8	ENST00000513101.1
exon_skip_154056	17	48540876:48540913:48541178:48541270:48541578:48541655	48541178:48541270	ENSG00000167107.8	ENST00000510410.1,ENST00000300441.4,ENST00000541920.1,ENST00000504392.1,ENST00000427954.2,ENST00000502667.1,ENST00000513101.1,ENST00000510262.1
exon_skip_154061	17	48541178:48541270:48541578:48541655:48541886:48541960	48541578:48541655	ENSG00000167107.8	ENST00000510262.1
exon_skip_154064	17	48541608:48541655:48541886:48541960:48548388:48548426	48541886:48541960	ENSG00000167107.8	ENST00000508245.1,ENST00000510262.1
exon_skip_154072	17	48545719:48545793:48545946:48545999:48548388:48548426	48545946:48545999	ENSG00000167107.8	ENST00000508734.1
exon_skip_154079	17	48548388:48548496:48549788:48549940:48551025:48551121	48549788:48549940	ENSG00000167107.8	ENST00000510410.1,ENST00000300441.4,ENST00000541920.1,ENST00000504392.1,ENST00000427954.2,ENST00000502667.1,ENST00000508245.1,ENST00000512119.1,ENST00000512537.1
exon_skip_154082	17	48551025:48551167:48551254:48551365:48551559:48551617	48551254:48551365	ENSG00000167107.8	ENST00000510410.1,ENST00000300441.4,ENST00000541920.1,ENST00000504392.1,ENST00000427954.2,ENST00000502667.1,ENST00000506085.1,ENST00000511147.1
exon_skip_154083	17	48551254:48551365:48551559:48551628:48551862:48552031	48551559:48551628	ENSG00000167107.8	ENST00000510410.1,ENST00000300441.4,ENST00000541920.1,ENST00000504392.1,ENST00000427954.2,ENST00000502667.1,ENST00000506085.1

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 ACSF2

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
ENST00000300441	48539780	48539946	Frame-shift
ENST00000300441	48541178	48541270	Frame-shift
ENST00000300441	48549788	48549940	Frame-shift
ENST00000300441	48538602	48538731	In-frame
ENST00000300441	48538993	48539047	In-frame
ENST00000300441	48540516	48540612	In-frame
ENST00000300441	48551254	48551365	In-frame
ENST00000300441	48551559	48551628	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
ENST00000300441	48539780	48539946	Frame-shift
ENST00000300441	48541178	48541270	Frame-shift
ENST00000300441	48549788	48549940	Frame-shift
ENST00000300441	48538602	48538731	In-frame
ENST00000300441	48538993	48539047	In-frame
ENST00000300441	48540516	48540612	In-frame
ENST00000300441	48551254	48551365	In-frame
ENST00000300441	48551559	48551628	In-frame

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Infer the effects of exon skipping event on protein functional features for ACSF2

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
ENST00000300441	2252	615	48538602	48538731	429	557	108	151
ENST00000300441	2252	615	48538993	48539047	558	611	151	169
ENST00000300441	2252	615	48540516	48540612	897	992	264	296
ENST00000300441	2252	615	48551254	48551365	1722	1832	539	576
ENST00000300441	2252	615	48551559	48551628	1833	1901	576	599

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
ENST00000300441	2252	615	48538602	48538731	429	557	108	151
ENST00000300441	2252	615	48538993	48539047	558	611	151	169
ENST00000300441	2252	615	48540516	48540612	897	992	264	296
ENST00000300441	2252	615	48551254	48551365	1722	1832	539	576
ENST00000300441	2252	615	48551559	48551628	1833	1901	576	599

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
Q96CM8	108	151	1	160	Alternative sequence	ID=VSP_055803;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96CM8	108	151	146	158	Alternative sequence	ID=VSP_055805;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96CM8	108	151	42	615	Chain	ID=PRO_0000315793;Note=Acyl-CoA synthetase family member 2%2C mitochondrial
Q96CM8	151	169	1	160	Alternative sequence	ID=VSP_055803;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96CM8	151	169	146	158	Alternative sequence	ID=VSP_055805;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96CM8	151	169	42	615	Chain	ID=PRO_0000315793;Note=Acyl-CoA synthetase family member 2%2C mitochondrial
Q96CM8	264	296	42	615	Chain	ID=PRO_0000315793;Note=Acyl-CoA synthetase family member 2%2C mitochondrial
Q96CM8	264	296	263	271	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96CM8	539	576	42	615	Chain	ID=PRO_0000315793;Note=Acyl-CoA synthetase family member 2%2C mitochondrial
Q96CM8	539	576	544	544	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8VCW8
Q96CM8	539	576	544	544	Modified residue	Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8VCW8
Q96CM8	539	576	570	570	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8VCW8
Q96CM8	539	576	570	570	Modified residue	Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8VCW8
Q96CM8	576	599	599	599	Binding site	Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96CM8	576	599	42	615	Chain	ID=PRO_0000315793;Note=Acyl-CoA synthetase family member 2%2C mitochondrial
Q96CM8	576	599	599	599	Modified residue	Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8VCW8

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
Q96CM8	108	151	1	160	Alternative sequence	ID=VSP_055803;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96CM8	108	151	146	158	Alternative sequence	ID=VSP_055805;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96CM8	108	151	42	615	Chain	ID=PRO_0000315793;Note=Acyl-CoA synthetase family member 2%2C mitochondrial
Q96CM8	151	169	1	160	Alternative sequence	ID=VSP_055803;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96CM8	151	169	146	158	Alternative sequence	ID=VSP_055805;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q96CM8	151	169	42	615	Chain	ID=PRO_0000315793;Note=Acyl-CoA synthetase family member 2%2C mitochondrial
Q96CM8	264	296	42	615	Chain	ID=PRO_0000315793;Note=Acyl-CoA synthetase family member 2%2C mitochondrial
Q96CM8	264	296	263	271	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96CM8	539	576	42	615	Chain	ID=PRO_0000315793;Note=Acyl-CoA synthetase family member 2%2C mitochondrial
Q96CM8	539	576	544	544	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8VCW8
Q96CM8	539	576	544	544	Modified residue	Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8VCW8
Q96CM8	539	576	570	570	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8VCW8
Q96CM8	539	576	570	570	Modified residue	Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8VCW8
Q96CM8	576	599	599	599	Binding site	Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96CM8	576	599	42	615	Chain	ID=PRO_0000315793;Note=Acyl-CoA synthetase family member 2%2C mitochondrial
Q96CM8	576	599	599	599	Modified residue	Note=N6-succinyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q8VCW8

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SNVs in the skipped exons for ACSF2

- 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-G3-A3CJ-01	exon_skip_154040	48538603	48538648	48538609	48538609	Frame_Shift_Del	A	-	p.K136fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_154041	48538603	48538731	48538609	48538609	Frame_Shift_Del	A	-	p.K136fs
LIHC	TCGA-DD-A39Y-01	exon_skip_154054 exon_skip_154052	48540517	48540612	48540581	48540581	Frame_Shift_Del	T	-	p.I311fs
LIHC	TCGA-DD-A3A0-01	exon_skip_154082	48551255	48551365	48551281	48551281	Frame_Shift_Del	G	-	p.M573fs
HNSC	TCGA-BA-4074-01	exon_skip_154054 exon_skip_154052	48540517	48540612	48540530	48540531	Frame_Shift_Ins	-	C	p.S269fs
HNSC	TCGA-BA-4074-01	exon_skip_154054 exon_skip_154052	48540517	48540612	48540530	48540531	Frame_Shift_Ins	-	C	p.T294fs
BLCA	TCGA-XF-AAML-01	exon_skip_154041	48538603	48538731	48538699	48538699	Nonsense_Mutation	C	T	p.Q166*
KIRP	TCGA-B9-A5W8-01	exon_skip_154061	48541579	48541655	48541577	48541577	Splice_Site	A	G	.
KIRP	TCGA-B9-A5W8-01	exon_skip_154061	48541579	48541655	48541577	48541577	Splice_Site	A	G	p.G405_splice
UCEC	TCGA-BS-A0U7-01	exon_skip_154083	48551560	48551628	48551629	48551629	Splice_Site	G	A	p.K624_splice

- 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
JAR_PLACENTA	48538994	48539047	48539028	48539029	Frame_Shift_Del	TG	-	p.L163fs
JHOS4_OVARY	48538038	48538233	48538040	48538040	Missense_Mutation	C	T	p.S44F
COLO792_SKIN	48539781	48539946	48539817	48539818	Missense_Mutation	CC	TA	p.P222T
COLO792_SKIN	48539781	48539946	48539818	48539818	Missense_Mutation	C	A	p.P222T
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48539781	48539946	48539834	48539834	Missense_Mutation	T	C	p.L227P
HCC202_BREAST	48539781	48539946	48539938	48539938	Missense_Mutation	T	C	p.F262L
SNU1040_LARGE_INTESTINE	48540517	48540612	48540542	48540542	Missense_Mutation	C	T	p.A273V
SH4_SKIN	48540587	48540612	48540592	48540592	Missense_Mutation	C	T	p.R290C
SH4_SKIN	48540517	48540612	48540592	48540592	Missense_Mutation	C	T	p.R290C
MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48541179	48541270	48541205	48541205	Missense_Mutation	C	T	p.T358M
KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48541179	48541270	48541254	48541254	Missense_Mutation	C	G	p.I374M
MESSA_SOFT_TISSUE	48541179	48541270	48541256	48541256	Missense_Mutation	C	T	p.S375L
CAL148_BREAST	48541179	48541270	48541268	48541268	Missense_Mutation	G	C	p.G379A
MFE319_ENDOMETRIUM	48549789	48549940	48549805	48549805	Missense_Mutation	T	C	p.M447T
MFE319_ENDOMETRIUM	48549789	48549940	48549819	48549819	Missense_Mutation	C	A	p.L452M
NCIH2227_LUNG	48549789	48549940	48549895	48549895	Missense_Mutation	A	G	p.Q477R
PA1_OVARY	48549789	48549940	48549937	48549937	Missense_Mutation	C	A	p.T491K
NCIH1355_LUNG	48551255	48551365	48551286	48551286	Missense_Mutation	A	C	p.E550A
HEC108_ENDOMETRIUM	48551255	48551365	48551313	48551313	Missense_Mutation	A	G	p.K559R
CW2_LARGE_INTESTINE	48551255	48551365	48551326	48551326	Missense_Mutation	G	T	p.E563D
P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	48551255	48551365	48551349	48551349	Missense_Mutation	C	A	p.A571D
ES3_BONE	48541579	48541655	48541608	48541608	Nonsense_Mutation	G	T	p.E390*
HCT116_LARGE_INTESTINE	48539781	48539946	48539946	48539946	Splice_Site	G	A	p.S264S

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ACSF2

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 ACSF2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACSF2

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RelatedDrugs for ACSF2

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 ACSF2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in 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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Gene summary for ACSF2

Exon skipping events across known transcript of Ensembl for ACSF2 from UCSC genome browser

Gene isoform structures and expression levels for ACSF2

Exon skipping events with PSIs in TCGA for ACSF2

Exon skipping events with PSIs in GTEx for ACSF2

Open reading frame (ORF) annotation in the exon skipping event for ACSF2

Infer the effects of exon skipping event on protein functional features for ACSF2

SNVs in the skipped exons for ACSF2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ACSF2

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACSF2

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACSF2

RelatedDrugs for ACSF2

RelatedDiseases for ACSF2