ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for EIF4A1

Gene summary

Gene information	Gene symbol	EIF4A1
	Gene ID	1973
	Gene name	eukaryotic translation initiation factor 4A1
	Synonyms	DDX2A\|EIF-4A\|EIF4A\|eIF-4A-I\|eIF4A-I
	Cytomap	17p13.1
	Type of gene	protein-coding
	Description	eukaryotic initiation factor 4A-IATP-dependent RNA helicase eIF4A-1eukaryotic initiation factor 4AIeukaryotic translation initiation factor 4A
	Modification date	20180522
	UniProtAcc	P60842
	Context	PubMed: EIF4A1 [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 EIF4A1 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 EIF4A1

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 EIF4A1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_148702	17	7476159:7476182:7476717:7476865:7477577:7477626	7476717:7476865	ENSG00000161960.10	ENST00000578476.1,ENST00000380512.5,ENST00000580461.1,ENST00000579139.1
exon_skip_148704	17	7476159:7476182:7477577:7477626:7477863:7477996	7477577:7477626	ENSG00000161960.10	ENST00000584712.1,ENST00000584784.1,ENST00000293831.8,ENST00000582746.1,ENST00000581544.1,ENST00000578495.1,ENST00000577269.1,ENST00000582848.1,ENST00000584901.1,ENST00000584054.1
exon_skip_148709	17	7476159:7476182:7477583:7477626:7477863:7477996	7477583:7477626	ENSG00000161960.10	ENST00000585024.1
exon_skip_148711	17	7476159:7476182:7477863:7477996:7478436:7478483	7477863:7477996	ENSG00000161960.10	ENST00000582213.1,ENST00000583802.1
exon_skip_148717	17	7477583:7477626:7477839:7477996:7478436:7478483	7477839:7477996	ENSG00000161960.10	ENST00000582169.1
exon_skip_148718	17	7477583:7477626:7477863:7477996:7478436:7478483	7477863:7477996	ENSG00000161960.10	ENST00000584712.1,ENST00000584860.1,ENST00000578324.1,ENST00000584784.1,ENST00000293831.8,ENST00000578476.1,ENST00000582746.1,ENST00000380512.5,ENST00000581384.1,ENST00000578495.1,ENST00000580888.1,ENST00000577269.1,ENST00000582848.1,ENST00000577929.1,ENS
exon_skip_148720	17	7477583:7477626:7477865:7477996:7478436:7478483	7477865:7477996	ENSG00000161960.10	ENST00000579139.1
exon_skip_148725	17	7477863:7477996:7478436:7478576:7479841:7479893	7478436:7478576	ENSG00000161960.10	ENST00000582169.1,ENST00000584860.1,ENST00000578324.1,ENST00000584784.1,ENST00000293831.8,ENST00000578476.1,ENST00000582746.1,ENST00000581384.1,ENST00000580888.1,ENST00000577269.1,ENST00000584901.1,ENST00000585024.1,ENST00000583802.1
exon_skip_148731	17	7477865:7477996:7479841:7480010:7480373:7480428	7479841:7480010	ENSG00000161960.10	ENST00000581544.1
exon_skip_148738	17	7478505:7478576:7479841:7480010:7480373:7480428	7479841:7480010	ENSG00000161960.10	ENST00000584860.1,ENST00000578324.1,ENST00000584784.1,ENST00000293831.8,ENST00000582746.1,ENST00000577731.1,ENST00000581384.1,ENST00000580888.1,ENST00000577269.1,ENST00000585024.1,ENST00000583802.1
exon_skip_148740	17	7478505:7478576:7479847:7480010:7480373:7480428	7479847:7480010	ENSG00000161960.10	ENST00000578495.1
exon_skip_148743	17	7480373:7480483:7480661:7480805:7480886:7480937	7480661:7480805	ENSG00000161960.10	ENST00000396527.3,ENST00000583389.1,ENST00000584860.1,ENST00000578324.1,ENST00000293831.8,ENST00000582746.1,ENST00000581544.1,ENST00000578495.1,ENST00000577269.1,ENST00000578754.1
exon_skip_148749	17	7480373:7480483:7480751:7480805:7480886:7480937	7480751:7480805	ENSG00000161960.10	ENST00000584784.1
exon_skip_148752	17	7480751:7480805:7480886:7481024:7481144:7481234	7480886:7481024	ENSG00000161960.10	ENST00000578569.1,ENST00000583389.1,ENST00000578324.1,ENST00000293831.8,ENST00000582746.1,ENST00000577269.1
exon_skip_148754	17	7481144:7481234:7481437:7481562:7481659:7481719	7481437:7481562	ENSG00000161960.10	ENST00000582050.1
exon_skip_148756	17	7481144:7481234:7481482:7481562:7481659:7481719	7481482:7481562	ENSG00000161960.10	ENST00000293831.8
exon_skip_148758	17	7481144:7481234:7481544:7481562:7481659:7481719	7481544:7481562	ENSG00000161960.10	ENST00000583389.1,ENST00000577269.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for EIF4A1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_148702	17	7476159:7476182:7476717:7476865:7477577:7477626	7476717:7476865	ENSG00000161960.10	ENST00000580461.1,ENST00000578476.1,ENST00000380512.5,ENST00000579139.1
exon_skip_148704	17	7476159:7476182:7477577:7477626:7477863:7477996	7477577:7477626	ENSG00000161960.10	ENST00000584054.1,ENST00000584712.1,ENST00000578495.1,ENST00000293831.8,ENST00000582848.1,ENST00000584901.1,ENST00000581544.1,ENST00000577269.1,ENST00000584784.1,ENST00000582746.1
exon_skip_148709	17	7476159:7476182:7477583:7477626:7477863:7477996	7477583:7477626	ENSG00000161960.10	ENST00000585024.1
exon_skip_148711	17	7476159:7476182:7477863:7477996:7478436:7478483	7477863:7477996	ENSG00000161960.10	ENST00000582213.1,ENST00000583802.1
exon_skip_148713	17	7476159:7476182:7478436:7478576:7480373:7480428	7478436:7478576	ENSG00000161960.10	ENST00000578754.1,ENST00000396527.3
exon_skip_148717	17	7477583:7477626:7477839:7477996:7478436:7478483	7477839:7477996	ENSG00000161960.10	ENST00000582169.1
exon_skip_148718	17	7477583:7477626:7477863:7477996:7478436:7478483	7477863:7477996	ENSG00000161960.10	ENST00000580888.1,ENST00000580461.1,ENST00000584712.1,ENST00000578476.1,ENST00000578495.1,ENST00000293831.8,ENST00000380512.5,ENST00000582848.1,ENST00000585024.1,ENST00000584901.1,ENST00000577269.1,ENST00000584784.1,ENST00000582746.1,ENST00000584860.1,ENS
exon_skip_148720	17	7477583:7477626:7477865:7477996:7478436:7478483	7477865:7477996	ENSG00000161960.10	ENST00000579139.1
exon_skip_148725	17	7477863:7477996:7478436:7478576:7479841:7479893	7478436:7478576	ENSG00000161960.10	ENST00000580888.1,ENST00000578476.1,ENST00000582169.1,ENST00000293831.8,ENST00000585024.1,ENST00000583802.1,ENST00000584901.1,ENST00000577269.1,ENST00000584784.1,ENST00000582746.1,ENST00000584860.1,ENST00000581384.1,ENST00000578324.1
exon_skip_148731	17	7477865:7477996:7479841:7480010:7480373:7480428	7479841:7480010	ENSG00000161960.10	ENST00000581544.1
exon_skip_148738	17	7478505:7478576:7479841:7480010:7480373:7480428	7479841:7480010	ENSG00000161960.10	ENST00000580888.1,ENST00000293831.8,ENST00000585024.1,ENST00000583802.1,ENST00000577269.1,ENST00000584784.1,ENST00000582746.1,ENST00000584860.1,ENST00000581384.1,ENST00000578324.1,ENST00000577731.1
exon_skip_148740	17	7478505:7478576:7479847:7480010:7480373:7480428	7479847:7480010	ENSG00000161960.10	ENST00000578495.1
exon_skip_148743	17	7480373:7480483:7480661:7480805:7480886:7480937	7480661:7480805	ENSG00000161960.10	ENST00000578754.1,ENST00000578495.1,ENST00000396527.3,ENST00000293831.8,ENST00000581544.1,ENST00000577269.1,ENST00000582746.1,ENST00000584860.1,ENST00000578324.1,ENST00000583389.1
exon_skip_148749	17	7480373:7480483:7480751:7480805:7480886:7480937	7480751:7480805	ENSG00000161960.10	ENST00000584784.1
exon_skip_148752	17	7480751:7480805:7480886:7481024:7481144:7481234	7480886:7481024	ENSG00000161960.10	ENST00000293831.8,ENST00000577269.1,ENST00000582746.1,ENST00000578324.1,ENST00000583389.1,ENST00000578569.1
exon_skip_148754	17	7481144:7481234:7481437:7481562:7481659:7481719	7481437:7481562	ENSG00000161960.10	ENST00000582050.1
exon_skip_148756	17	7481144:7481234:7481482:7481562:7481659:7481719	7481482:7481562	ENSG00000161960.10	ENST00000293831.8
exon_skip_148758	17	7481144:7481234:7481544:7481562:7481659:7481719	7481544:7481562	ENSG00000161960.10	ENST00000577269.1,ENST00000583389.1

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 EIF4A1

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
ENST00000293831	7477577	7477626	Frame-shift
ENST00000293831	7477863	7477996	Frame-shift
ENST00000293831	7478436	7478576	Frame-shift
ENST00000293831	7479841	7480010	Frame-shift
ENST00000293831	7481482	7481562	Frame-shift
ENST00000293831	7480661	7480805	In-frame
ENST00000293831	7480886	7481024	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
ENST00000293831	7477577	7477626	Frame-shift
ENST00000293831	7477863	7477996	Frame-shift
ENST00000293831	7478436	7478576	Frame-shift
ENST00000293831	7479841	7480010	Frame-shift
ENST00000293831	7481482	7481562	Frame-shift
ENST00000293831	7480661	7480805	In-frame
ENST00000293831	7480886	7481024	In-frame

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Infer the effects of exon skipping event on protein functional features for EIF4A1

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
ENST00000293831	1773	406	7480661	7480805	641	784	208	256
ENST00000293831	1773	406	7480886	7481024	785	922	256	302

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
ENST00000293831	1773	406	7480661	7480805	641	784	208	256
ENST00000293831	1773	406	7480886	7481024	785	922	256	302

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
P60842	208	256	208	214	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2G9N
P60842	208	256	232	235	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2G9N
P60842	208	256	241	243	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ZU6
P60842	208	256	246	251	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ZU6
P60842	208	256	2	406	Chain	ID=PRO_0000054933;Note=Eukaryotic initiation factor 4A-I
P60842	208	256	225	225	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P60842	208	256	238	238	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P60842	208	256	63	234	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P60842	208	256	245	406	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P60842	208	256	218	224	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2G9N
P60842	208	256	256	269	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ZU6
P60842	208	256	238	238	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P60843
P60842	208	256	225	227	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EIQ
P60842	256	302	273	278	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ZU6
P60842	256	302	300	302	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EIQ
P60842	256	302	2	406	Chain	ID=PRO_0000054933;Note=Eukaryotic initiation factor 4A-I
P60842	256	302	245	406	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P60842	256	302	256	269	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ZU6
P60842	256	302	282	290	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ZU6
P60842	256	302	291	296	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ZU6

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
P60842	208	256	208	214	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2G9N
P60842	208	256	232	235	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2G9N
P60842	208	256	241	243	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ZU6
P60842	208	256	246	251	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ZU6
P60842	208	256	2	406	Chain	ID=PRO_0000054933;Note=Eukaryotic initiation factor 4A-I
P60842	208	256	225	225	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P60842	208	256	238	238	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P60842	208	256	63	234	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P60842	208	256	245	406	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P60842	208	256	218	224	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2G9N
P60842	208	256	256	269	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ZU6
P60842	208	256	238	238	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:P60843
P60842	208	256	225	227	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EIQ
P60842	256	302	273	278	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ZU6
P60842	256	302	300	302	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3EIQ
P60842	256	302	2	406	Chain	ID=PRO_0000054933;Note=Eukaryotic initiation factor 4A-I
P60842	256	302	245	406	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P60842	256	302	256	269	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ZU6
P60842	256	302	282	290	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ZU6
P60842	256	302	291	296	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2ZU6

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SNVs in the skipped exons for EIF4A1

- 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.

EIF4A1_ESCA_exon_skip_148740_psi_boxplot.png
boxplot

EIF4A1_LGG_exon_skip_148720_psi_boxplot.png
boxplot

EIF4A1_LIHC_exon_skip_148740_psi_boxplot.png
boxplot

EIF4A1_STAD_exon_skip_148740_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
LGG	TCGA-HT-7475-01	exon_skip_148717 exon_skip_148711 exon_skip_148718 exon_skip_148720	7477840	7477996	7477923	7477923	Frame_Shift_Del	C	-	p.L44fs
LGG	TCGA-HT-7475-01	exon_skip_148717 exon_skip_148711 exon_skip_148718 exon_skip_148720	7477864	7477996	7477923	7477923	Frame_Shift_Del	C	-	p.L44fs
LGG	TCGA-HT-7475-01	exon_skip_148717 exon_skip_148711 exon_skip_148718 exon_skip_148720	7477866	7477996	7477923	7477923	Frame_Shift_Del	C	-	p.L44fs
ESCA	TCGA-VR-A8Q7-01	exon_skip_148740 exon_skip_148731 exon_skip_148738	7479842	7480010	7479902	7479902	Frame_Shift_Del	G	-	p.G137fs
ESCA	TCGA-VR-A8Q7-01	exon_skip_148740 exon_skip_148731 exon_skip_148738	7479848	7480010	7479902	7479902	Frame_Shift_Del	G	-	p.G137fs
LIHC	TCGA-DD-A1EG-01	exon_skip_148740 exon_skip_148731 exon_skip_148738	7479842	7480010	7479969	7479969	Frame_Shift_Del	C	-	p.T158fs
LIHC	TCGA-DD-A1EG-01	exon_skip_148740 exon_skip_148731 exon_skip_148738	7479848	7480010	7479969	7479969	Frame_Shift_Del	C	-	p.T158fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_148740 exon_skip_148731 exon_skip_148738	7479842	7480010	7479969	7479969	Frame_Shift_Del	C	-	p.T158fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_148740 exon_skip_148731 exon_skip_148738	7479848	7480010	7479969	7479969	Frame_Shift_Del	C	-	p.T158fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_148743	7480662	7480805	7480708	7480708	Frame_Shift_Del	C	-	p.T224fs
LGG	TCGA-DU-6392-01	exon_skip_148743	7480662	7480805	7480800	7480800	Nonsense_Mutation	C	T	p.R255*
LGG	TCGA-DU-6392-01	exon_skip_148749	7480752	7480805	7480800	7480800	Nonsense_Mutation	C	T	p.R255*
KIRP	TCGA-J7-8537-01	exon_skip_148725	7478437	7478576	7478578	7478578	Splice_Site	T	G	.
KIRP	TCGA-J7-8537-01	exon_skip_148725	7478437	7478576	7478578	7478578	Splice_Site	T	G	p.Q115_splice
CESC	TCGA-EK-A2RO-01	exon_skip_148740 exon_skip_148731 exon_skip_148738	7479842	7480010	7479841	7479841	Splice_Site	G	T	e5-1
STAD	TCGA-BR-8680-01	exon_skip_148740 exon_skip_148731 exon_skip_148738	7479842	7480010	7480012	7480012	Splice_Site	T	C	.
STAD	TCGA-BR-8680-01	exon_skip_148740 exon_skip_148731 exon_skip_148738	7479842	7480010	7480012	7480012	Splice_Site	T	C	p.S172_splice
STAD	TCGA-BR-8680-01	exon_skip_148740 exon_skip_148731 exon_skip_148738	7479848	7480010	7480012	7480012	Splice_Site	T	C	.
STAD	TCGA-BR-8680-01	exon_skip_148740 exon_skip_148731 exon_skip_148738	7479848	7480010	7480012	7480012	Splice_Site	T	C	p.S172_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_148738
	Skipped exon start: 7479848
	Skipped exon end: 7480010
	Mutation start: 7479969
	Mutation end: 7479969
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.T158fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_148738
	Skipped exon start: 7479842
	Skipped exon end: 7480010
	Mutation start: 7479969
	Mutation end: 7479969
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.T158fs
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	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_148738
	Skipped exon start: 7479848
	Skipped exon end: 7480010
	Mutation start: 7479969
	Mutation end: 7479969
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.T158fs
	Sample: TCGA-DD-A1EG-01
	Cancer type: LIHC
	ESID: exon_skip_148738
	Skipped exon start: 7479842
	Skipped exon end: 7480010
	Mutation start: 7479969
	Mutation end: 7479969
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.T158fs
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exon_skip_475734_LIHC_TCGA-DD-A1EG-01.png
exon_skip_476238_LIHC_TCGA-DD-A1EG-01.png
exon_skip_476392_LIHC_TCGA-DD-A1EG-01.png
exon_skip_476535_LIHC_TCGA-DD-A1EG-01.png
exon_skip_478361_LIHC_TCGA-DD-A1EG-01.png
exon_skip_47845_LIHC_TCGA-DD-A1EG-01.png
exon_skip_483792_LIHC_TCGA-DD-A1EG-01.png
exon_skip_483806_LIHC_TCGA-DD-A1EG-01.png
exon_skip_484511_LIHC_TCGA-DD-A1EG-01.png
exon_skip_486903_LIHC_TCGA-DD-A1EG-01.png
exon_skip_486908_LIHC_TCGA-DD-A1EG-01.png
exon_skip_487634_LIHC_TCGA-DD-A1EG-01.png
exon_skip_48914_LIHC_TCGA-DD-A1EG-01.png
exon_skip_489575_LIHC_TCGA-DD-A1EG-01.png
exon_skip_489706_LIHC_TCGA-DD-A1EG-01.png
exon_skip_490514_LIHC_TCGA-DD-A1EG-01.png
exon_skip_492073_LIHC_TCGA-DD-A1EG-01.png
exon_skip_494000_LIHC_TCGA-DD-A1EG-01.png
exon_skip_495598_LIHC_TCGA-DD-A1EG-01.png
exon_skip_495600_LIHC_TCGA-DD-A1EG-01.png
exon_skip_497719_LIHC_TCGA-DD-A1EG-01.png
exon_skip_498628_LIHC_TCGA-DD-A1EG-01.png
exon_skip_498631_LIHC_TCGA-DD-A1EG-01.png
exon_skip_499018_LIHC_TCGA-DD-A1EG-01.png
exon_skip_501551_LIHC_TCGA-DD-A1EG-01.png
exon_skip_503330_LIHC_TCGA-DD-A1EG-01.png
exon_skip_503777_LIHC_TCGA-DD-A1EG-01.png
exon_skip_504288_LIHC_TCGA-DD-A1EG-01.png
exon_skip_5044_LIHC_TCGA-DD-A1EG-01.png
exon_skip_506320_LIHC_TCGA-DD-A1EG-01.png
exon_skip_507513_LIHC_TCGA-DD-A1EG-01.png
exon_skip_508970_LIHC_TCGA-DD-A1EG-01.png
exon_skip_510119_LIHC_TCGA-DD-A1EG-01.png
exon_skip_512244_LIHC_TCGA-DD-A1EG-01.png
exon_skip_512530_LIHC_TCGA-DD-A1EG-01.png
exon_skip_513207_LIHC_TCGA-DD-A1EG-01.png
exon_skip_513240_LIHC_TCGA-DD-A1EG-01.png
exon_skip_514990_LIHC_TCGA-DD-A1EG-01.png
exon_skip_516934_LIHC_TCGA-DD-A1EG-01.png
exon_skip_517296_LIHC_TCGA-DD-A1EG-01.png
exon_skip_517308_LIHC_TCGA-DD-A1EG-01.png
exon_skip_52417_LIHC_TCGA-DD-A1EG-01.png
exon_skip_54123_LIHC_TCGA-DD-A1EG-01.png
exon_skip_54476_LIHC_TCGA-DD-A1EG-01.png
exon_skip_56470_LIHC_TCGA-DD-A1EG-01.png
exon_skip_57633_LIHC_TCGA-DD-A1EG-01.png
exon_skip_57892_LIHC_TCGA-DD-A1EG-01.png
exon_skip_57897_LIHC_TCGA-DD-A1EG-01.png
exon_skip_58035_LIHC_TCGA-DD-A1EG-01.png
exon_skip_5818_LIHC_TCGA-DD-A1EG-01.png
exon_skip_58444_LIHC_TCGA-DD-A1EG-01.png
exon_skip_58894_LIHC_TCGA-DD-A1EG-01.png
exon_skip_59424_LIHC_TCGA-DD-A1EG-01.png
exon_skip_59476_LIHC_TCGA-DD-A1EG-01.png
exon_skip_59654_LIHC_TCGA-DD-A1EG-01.png
exon_skip_60187_LIHC_TCGA-DD-A1EG-01.png
exon_skip_60189_LIHC_TCGA-DD-A1EG-01.png
exon_skip_62322_LIHC_TCGA-DD-A1EG-01.png
exon_skip_63747_LIHC_TCGA-DD-A1EG-01.png
exon_skip_66185_LIHC_TCGA-DD-A1EG-01.png
exon_skip_66376_LIHC_TCGA-DD-A1EG-01.png
exon_skip_66813_LIHC_TCGA-DD-A1EG-01.png
exon_skip_67402_LIHC_TCGA-DD-A1EG-01.png
exon_skip_67594_LIHC_TCGA-DD-A1EG-01.png
exon_skip_67918_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68288_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68407_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68411_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68522_LIHC_TCGA-DD-A1EG-01.png
exon_skip_68768_LIHC_TCGA-DD-A1EG-01.png
exon_skip_69056_LIHC_TCGA-DD-A1EG-01.png
exon_skip_70050_LIHC_TCGA-DD-A1EG-01.png
exon_skip_71400_LIHC_TCGA-DD-A1EG-01.png
exon_skip_77097_LIHC_TCGA-DD-A1EG-01.png
exon_skip_79815_LIHC_TCGA-DD-A1EG-01.png
exon_skip_81531_LIHC_TCGA-DD-A1EG-01.png
exon_skip_81532_LIHC_TCGA-DD-A1EG-01.png
exon_skip_822_LIHC_TCGA-DD-A1EG-01.png
exon_skip_82890_LIHC_TCGA-DD-A1EG-01.png
exon_skip_84090_LIHC_TCGA-DD-A1EG-01.png
exon_skip_86135_LIHC_TCGA-DD-A1EG-01.png
exon_skip_87721_LIHC_TCGA-DD-A1EG-01.png
exon_skip_87_LIHC_TCGA-DD-A1EG-01.png
exon_skip_93888_LIHC_TCGA-DD-A1EG-01.png
exon_skip_93891_LIHC_TCGA-DD-A1EG-01.png
exon_skip_94866_LIHC_TCGA-DD-A1EG-01.png
exon_skip_96939_LIHC_TCGA-DD-A1EG-01.png
exon_skip_9694_LIHC_TCGA-DD-A1EG-01.png
exon_skip_97667_LIHC_TCGA-DD-A1EG-01.png
exon_skip_98055_LIHC_TCGA-DD-A1EG-01.png
exon_skip_98056_LIHC_TCGA-DD-A1EG-01.png
exon_skip_99140_LIHC_TCGA-DD-A1EG-01.png
	Sample: TCGA-HT-7475-01
	Cancer type: LGG
	ESID: exon_skip_148720
	Skipped exon start: 7477840
	Skipped exon end: 7477996
	Mutation start: 7477923
	Mutation end: 7477923
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.L44fs
	Sample: TCGA-HT-7475-01
	Cancer type: LGG
	ESID: exon_skip_148720
	Skipped exon start: 7477864
	Skipped exon end: 7477996
	Mutation start: 7477923
	Mutation end: 7477923
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.L44fs
	Sample: TCGA-HT-7475-01
	Cancer type: LGG
	ESID: exon_skip_148720
	Skipped exon start: 7477866
	Skipped exon end: 7477996
	Mutation start: 7477923
	Mutation end: 7477923
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.L44fs
exon_skip_148717_LGG_TCGA-HT-7475-01.png
exon_skip_148718_LGG_TCGA-HT-7475-01.png
exon_skip_148720_LGG_TCGA-HT-7475-01.png
	Sample: TCGA-HT-7475-01
	Cancer type: LGG
	ESID: exon_skip_148720
	Skipped exon start: 7477840
	Skipped exon end: 7477996
	Mutation start: 7477923
	Mutation end: 7477923
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.L44fs
	Sample: TCGA-HT-7475-01
	Cancer type: LGG
	ESID: exon_skip_148720
	Skipped exon start: 7477864
	Skipped exon end: 7477996
	Mutation start: 7477923
	Mutation end: 7477923
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.L44fs
	Sample: TCGA-HT-7475-01
	Cancer type: LGG
	ESID: exon_skip_148720
	Skipped exon start: 7477866
	Skipped exon end: 7477996
	Mutation start: 7477923
	Mutation end: 7477923
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.L44fs
exon_skip_148717_LGG_TCGA-HT-7475-01.png
exon_skip_148718_LGG_TCGA-HT-7475-01.png
exon_skip_148720_LGG_TCGA-HT-7475-01.png
	Sample: TCGA-HT-7475-01
	Cancer type: LGG
	ESID: exon_skip_148720
	Skipped exon start: 7477840
	Skipped exon end: 7477996
	Mutation start: 7477923
	Mutation end: 7477923
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.L44fs
	Sample: TCGA-HT-7475-01
	Cancer type: LGG
	ESID: exon_skip_148720
	Skipped exon start: 7477864
	Skipped exon end: 7477996
	Mutation start: 7477923
	Mutation end: 7477923
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.L44fs
	Sample: TCGA-HT-7475-01
	Cancer type: LGG
	ESID: exon_skip_148720
	Skipped exon start: 7477866
	Skipped exon end: 7477996
	Mutation start: 7477923
	Mutation end: 7477923
	Mutation type: Frame_Shift_Del
	Reference seq: C
	Mutation seq: -
	AAchange: p.L44fs
exon_skip_148717_LGG_TCGA-HT-7475-01.png
exon_skip_148718_LGG_TCGA-HT-7475-01.png
exon_skip_148720_LGG_TCGA-HT-7475-01.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
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7479848	7480010	7479901	7479902	Frame_Shift_Ins	-	G	p.G136fs
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7479842	7480010	7479901	7479902	Frame_Shift_Ins	-	G	p.G136fs
SNGM_ENDOMETRIUM	7477584	7477626	7477592	7477592	Missense_Mutation	G	T	p.G13V
SNGM_ENDOMETRIUM	7477578	7477626	7477592	7477592	Missense_Mutation	G	T	p.G13V
SNU1040_LARGE_INTESTINE	7477840	7477996	7477903	7477903	Missense_Mutation	A	G	p.N38D
SNU1040_LARGE_INTESTINE	7477864	7477996	7477903	7477903	Missense_Mutation	A	G	p.N38D
SNU1040_LARGE_INTESTINE	7477866	7477996	7477903	7477903	Missense_Mutation	A	G	p.N38D
SNU349_KIDNEY	7477840	7477996	7477937	7477937	Missense_Mutation	C	T	p.A49V
SNU349_KIDNEY	7477864	7477996	7477937	7477937	Missense_Mutation	C	T	p.A49V
SNU349_KIDNEY	7477866	7477996	7477937	7477937	Missense_Mutation	C	T	p.A49V
MFE319_ENDOMETRIUM	7477840	7477996	7477939	7477939	Missense_Mutation	T	C	p.Y50H
MFE319_ENDOMETRIUM	7477864	7477996	7477939	7477939	Missense_Mutation	T	C	p.Y50H
MFE319_ENDOMETRIUM	7477866	7477996	7477939	7477939	Missense_Mutation	T	C	p.Y50H
CCK81_LARGE_INTESTINE	7479848	7480010	7479857	7479857	Missense_Mutation	A	G	p.M121V
CCK81_LARGE_INTESTINE	7479842	7480010	7479857	7479857	Missense_Mutation	A	G	p.M121V
P3HR1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7479848	7480010	7479915	7479915	Missense_Mutation	T	A	p.V140E
P3HR1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7479842	7480010	7479915	7479915	Missense_Mutation	T	A	p.V140E
SNU1040_LARGE_INTESTINE	7479848	7480010	7479920	7479920	Missense_Mutation	G	A	p.A142T
SNU1040_LARGE_INTESTINE	7479842	7480010	7479920	7479920	Missense_Mutation	G	A	p.A142T
MELHO_SKIN	7479848	7480010	7479987	7479987	Missense_Mutation	A	T	p.D164V
MELHO_SKIN	7479842	7480010	7479987	7479987	Missense_Mutation	A	T	p.D164V
KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7479848	7480010	7479991	7479991	Missense_Mutation	G	A	p.M165I
KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7479842	7480010	7479991	7479991	Missense_Mutation	G	A	p.M165I
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7479848	7480010	7479999	7479999	Missense_Mutation	G	A	p.R168Q
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7479842	7480010	7479999	7479999	Missense_Mutation	G	A	p.R168Q
NCIH2110_LUNG	7480662	7480805	7480695	7480695	Missense_Mutation	G	A	p.V220M
CP67MEL_SKIN	7480662	7480805	7480740	7480740	Missense_Mutation	C	T	p.L235F
EN_ENDOMETRIUM	7480887	7481024	7480918	7480918	Missense_Mutation	A	G	p.Y267C
TE9_OESOPHAGUS	7480887	7481024	7480920	7480920	Missense_Mutation	G	A	p.E268K
SNU175_LARGE_INTESTINE	7480887	7481024	7480962	7480962	Missense_Mutation	C	T	p.R282W
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7480887	7481024	7480962	7480962	Missense_Mutation	C	T	p.R282W
OVMIU_OVARY	7480887	7481024	7480980	7480980	Missense_Mutation	C	T	p.L288F
PATU8902_PANCREAS	7480887	7481024	7481001	7481001	Missense_Mutation	C	G	p.R295G
639V_URINARY_TRACT	7480887	7481024	7481019	7481019	Missense_Mutation	G	A	p.A301T
CA922_UPPER_AERODIGESTIVE_TRACT	7481483	7481562	7481517	7481517	Missense_Mutation	T	A	p.V344D
CA922_UPPER_AERODIGESTIVE_TRACT	7481438	7481562	7481517	7481517	Missense_Mutation	T	A	p.V344D
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	7480662	7480805	7480663	7480663	Splice_Site	T	C	p.V209A
HEC1_ENDOMETRIUM	7481483	7481562	7481483	7481483	Splice_Site	G	A	p.A333T
HEC1_ENDOMETRIUM	7481438	7481562	7481483	7481483	Splice_Site	G	A	p.A333T
HEC1B_ENDOMETRIUM	7481483	7481562	7481483	7481483	Splice_Site	G	A	p.A333T
HEC1B_ENDOMETRIUM	7481438	7481562	7481483	7481483	Splice_Site	G	A	p.A333T

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EIF4A1

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 EIF4A1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EIF4A1

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RelatedDrugs for EIF4A1

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 EIF4A1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
EIF4A1	C0019693	HIV Infections	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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