ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for DDX11

Gene summary

Gene information	Gene symbol	DDX11
	Gene ID	1663
	Gene name	DEAD/H-box helicase 11
	Synonyms	CHL1\|CHLR1\|KRG2\|WABS
	Cytomap	12p11.21
	Type of gene	protein-coding
	Description	ATP-dependent DNA helicase DDX11CHL1-like helicase homologCHL1-related helicase gene-1CHL1-related protein 1DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae)DEAD/H
	Modification date	20180523
	UniProtAcc	Q96FC9
	Context	PubMed: DDX11 [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
DDX11	GO:0007062	sister chromatid cohesion	17105772
DDX11	GO:0032079	positive regulation of endodeoxyribonuclease activity	18499658
DDX11	GO:0032508	DNA duplex unwinding	10648783\|18499658\|26503245
DDX11	GO:0035563	positive regulation of chromatin binding	26089203
DDX11	GO:0044806	G-quadruplex DNA unwinding	26503245

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Exon skipping events across known transcript of Ensembl for DDX11 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 DDX11

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 DDX11

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_81230	12	31226842:31227025:31231323:31231471:31236746:31236995	31231323:31231471	ENSG00000013573.12	ENST00000536265.1,ENST00000407793.2,ENST00000251758.5,ENST00000535158.1,ENST00000350437.4,ENST00000435753.2,ENST00000542129.1,ENST00000438391.2,ENST00000539049.1
exon_skip_81231	12	31226842:31227025:31231396:31231471:31236746:31236995	31231396:31231471	ENSG00000013573.12	ENST00000415475.2
exon_skip_81232	12	31227197:31227261:31230878:31231222:31231323:31231471	31230878:31231222	ENSG00000013573.12	ENST00000535317.1
exon_skip_81234	12	31227197:31227261:31231323:31231471:31236746:31236995	31231323:31231471	ENSG00000013573.12	ENST00000542244.1
exon_skip_81237	12	31236900:31236995:31237516:31237603:31237902:31238002	31237516:31237603	ENSG00000013573.12	ENST00000536265.1,ENST00000407793.2,ENST00000251758.5,ENST00000535158.1,ENST00000350437.4,ENST00000542838.1,ENST00000435753.2,ENST00000415475.2,ENST00000542129.1,ENST00000540935.1,ENST00000228264.6,ENST00000543756.1,ENST00000539049.1,ENST00000545668.1
exon_skip_81240	12	31236900:31236995:31237902:31238060:31240871:31240917	31237902:31238060	ENSG00000013573.12	ENST00000438391.2
exon_skip_81241	12	31237516:31237603:31237731:31237845:31237943:31238060	31237731:31237845	ENSG00000013573.12	ENST00000542244.1
exon_skip_81243	12	31237516:31237603:31237902:31238060:31240871:31240917	31237902:31238060	ENSG00000013573.12	ENST00000536265.1,ENST00000407793.2,ENST00000535158.1,ENST00000350437.4,ENST00000542838.1,ENST00000415475.2,ENST00000542129.1,ENST00000540935.1,ENST00000228264.6,ENST00000539049.1,ENST00000545668.1
exon_skip_81248	12	31237943:31238060:31238958:31239146:31240871:31240917	31238958:31239146	ENSG00000013573.12	ENST00000251758.5,ENST00000435753.2
exon_skip_81249	12	31237943:31238060:31240871:31240917:31241977:31242045	31240871:31240917	ENSG00000013573.12	ENST00000536265.1,ENST00000407793.2,ENST00000535158.1,ENST00000350437.4,ENST00000542838.1,ENST00000415475.2,ENST00000542129.1,ENST00000542244.1,ENST00000540935.1,ENST00000228264.6,ENST00000438391.2,ENST00000539049.1,ENST00000545668.1
exon_skip_81250	12	31242002:31242085:31242336:31242424:31242819:31242933	31242336:31242424	ENSG00000013573.12	ENST00000407793.2,ENST00000251758.5,ENST00000350437.4,ENST00000542838.1,ENST00000228264.6,ENST00000438391.2,ENST00000545668.1,ENST00000545717.1
exon_skip_81254	12	31245795:31245826:31246178:31246258:31247523:31247567	31246178:31246258	ENSG00000013573.12	ENST00000536265.1,ENST00000407793.2,ENST00000251758.5,ENST00000350437.4,ENST00000542838.1,ENST00000536580.1,ENST00000435753.2,ENST00000542129.1,ENST00000228264.6,ENST00000539049.1,ENST00000539673.1,ENST00000545668.1
exon_skip_81257	12	31249847:31249924:31250818:31250931:31253568:31253641	31250818:31250931	ENSG00000013573.12	ENST00000536265.1,ENST00000407793.2,ENST00000251758.5,ENST00000350437.4,ENST00000542838.1,ENST00000435753.2,ENST00000228264.6,ENST00000539699.1,ENST00000545668.1
exon_skip_81264	12	31250818:31250931:31255176:31255245:31255360:31255461	31255176:31255245	ENSG00000013573.12	ENST00000542661.1
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENSG00000013573.12	ENST00000350437.4
exon_skip_81272	12	31254006:31254064:31254766:31254916:31255176:31255195	31254766:31254916	ENSG00000013573.12	ENST00000536265.1,ENST00000407793.2,ENST00000251758.5,ENST00000542838.1,ENST00000435753.2,ENST00000228264.6,ENST00000545668.1
exon_skip_81273	12	31255384:31255461:31255869:31255954:31256250:31256329	31255869:31255954	ENSG00000013573.12	ENST00000536265.1,ENST00000539702.1,ENST00000251758.5,ENST00000350437.4,ENST00000542838.1,ENST00000435753.2,ENST00000228264.6
exon_skip_81277	12	31255384:31255461:31255908:31255954:31256510:31256665	31255908:31255954	ENSG00000013573.12	ENST00000545115.1
exon_skip_81279	12	31255908:31255954:31256250:31256329:31256510:31256665	31256250:31256329	ENSG00000013573.12	ENST00000536265.1,ENST00000539702.1,ENST00000251758.5,ENST00000350437.4,ENST00000542838.1,ENST00000435753.2,ENST00000228264.6
exon_skip_81281	12	31255908:31255954:31256255:31256329:31256510:31256665	31256255:31256329	ENSG00000013573.12	ENST00000407793.2,ENST00000538345.1,ENST00000545668.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for DDX11

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_81230	12	31226842:31227025:31231323:31231471:31236746:31236995	31231323:31231471	ENSG00000013573.12	ENST00000407793.2,ENST00000251758.5,ENST00000542129.1,ENST00000438391.2,ENST00000435753.2,ENST00000539049.1,ENST00000536265.1,ENST00000350437.4,ENST00000535158.1
exon_skip_81231	12	31226842:31227025:31231396:31231471:31236746:31236995	31231396:31231471	ENSG00000013573.12	ENST00000415475.2
exon_skip_81232	12	31227197:31227261:31230878:31231222:31231323:31231471	31230878:31231222	ENSG00000013573.12	ENST00000535317.1
exon_skip_81234	12	31227197:31227261:31231323:31231471:31236746:31236995	31231323:31231471	ENSG00000013573.12	ENST00000542244.1
exon_skip_81237	12	31236900:31236995:31237516:31237603:31237902:31238002	31237516:31237603	ENSG00000013573.12	ENST00000542838.1,ENST00000407793.2,ENST00000251758.5,ENST00000542129.1,ENST00000228264.6,ENST00000435753.2,ENST00000540935.1,ENST00000539049.1,ENST00000536265.1,ENST00000415475.2,ENST00000545668.1,ENST00000350437.4,ENST00000535158.1,ENST00000543756.1
exon_skip_81240	12	31236900:31236995:31237902:31238060:31240871:31240917	31237902:31238060	ENSG00000013573.12	ENST00000438391.2
exon_skip_81241	12	31237516:31237603:31237731:31237845:31237943:31238060	31237731:31237845	ENSG00000013573.12	ENST00000542244.1
exon_skip_81243	12	31237516:31237603:31237902:31238060:31240871:31240917	31237902:31238060	ENSG00000013573.12	ENST00000542838.1,ENST00000407793.2,ENST00000542129.1,ENST00000228264.6,ENST00000540935.1,ENST00000539049.1,ENST00000536265.1,ENST00000415475.2,ENST00000545668.1,ENST00000350437.4,ENST00000535158.1
exon_skip_81248	12	31237943:31238060:31238958:31239146:31240871:31240917	31238958:31239146	ENSG00000013573.12	ENST00000251758.5,ENST00000435753.2
exon_skip_81250	12	31242002:31242085:31242336:31242424:31242819:31242933	31242336:31242424	ENSG00000013573.12	ENST00000542838.1,ENST00000407793.2,ENST00000251758.5,ENST00000228264.6,ENST00000438391.2,ENST00000545668.1,ENST00000350437.4,ENST00000545717.1
exon_skip_81254	12	31245795:31245826:31246178:31246258:31247523:31247567	31246178:31246258	ENSG00000013573.12	ENST00000542838.1,ENST00000407793.2,ENST00000251758.5,ENST00000542129.1,ENST00000228264.6,ENST00000435753.2,ENST00000539049.1,ENST00000536265.1,ENST00000545668.1,ENST00000350437.4,ENST00000536580.1,ENST00000539673.1
exon_skip_81257	12	31249847:31249924:31250818:31250931:31253568:31253641	31250818:31250931	ENSG00000013573.12	ENST00000542838.1,ENST00000407793.2,ENST00000251758.5,ENST00000228264.6,ENST00000435753.2,ENST00000536265.1,ENST00000545668.1,ENST00000350437.4,ENST00000539699.1
exon_skip_81264	12	31250818:31250931:31255176:31255245:31255360:31255461	31255176:31255245	ENSG00000013573.12	ENST00000542661.1
exon_skip_81272	12	31254006:31254064:31254766:31254916:31255176:31255195	31254766:31254916	ENSG00000013573.12	ENST00000542838.1,ENST00000407793.2,ENST00000251758.5,ENST00000228264.6,ENST00000435753.2,ENST00000536265.1,ENST00000545668.1
exon_skip_81273	12	31255384:31255461:31255869:31255954:31256250:31256329	31255869:31255954	ENSG00000013573.12	ENST00000542838.1,ENST00000251758.5,ENST00000228264.6,ENST00000435753.2,ENST00000536265.1,ENST00000350437.4,ENST00000539702.1
exon_skip_81277	12	31255384:31255461:31255908:31255954:31256510:31256665	31255908:31255954	ENSG00000013573.12	ENST00000545115.1
exon_skip_81279	12	31255908:31255954:31256250:31256329:31256510:31256665	31256250:31256329	ENSG00000013573.12	ENST00000542838.1,ENST00000251758.5,ENST00000228264.6,ENST00000435753.2,ENST00000536265.1,ENST00000350437.4,ENST00000539702.1
exon_skip_81281	12	31255908:31255954:31256255:31256329:31256510:31256665	31256255:31256329	ENSG00000013573.12	ENST00000407793.2,ENST00000545668.1,ENST00000538345.1

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 DDX11

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
ENST00000545668	31237902	31238060	Frame-shift
ENST00000545668	31240871	31240917	Frame-shift
ENST00000545668	31242336	31242424	Frame-shift
ENST00000545668	31246178	31246258	Frame-shift
ENST00000545668	31250818	31250931	Frame-shift
ENST00000545668	31256255	31256329	Frame-shift
ENST00000545668	31237516	31237603	In-frame
ENST00000545668	31254766	31254916	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
ENST00000545668	31237902	31238060	Frame-shift
ENST00000545668	31242336	31242424	Frame-shift
ENST00000545668	31246178	31246258	Frame-shift
ENST00000545668	31250818	31250931	Frame-shift
ENST00000545668	31256255	31256329	Frame-shift
ENST00000545668	31237516	31237603	In-frame
ENST00000545668	31254766	31254916	In-frame

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Infer the effects of exon skipping event on protein functional features for DDX11

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
ENST00000545668	3768	970	31237516	31237603	474	560	131	160
ENST00000545668	3768	970	31254766	31254916	2133	2282	684	734

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
ENST00000545668	3768	970	31237516	31237603	474	560	131	160
ENST00000545668	3768	970	31254766	31254916	2133	2282	684	734

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
Q96FC9	131	160	1	970	Chain	ID=PRO_0000055136;Note=ATP-dependent DNA helicase DDX11
Q96FC9	131	160	9	445	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
Q96FC9	684	734	289	970	Alternative sequence	ID=VSP_016862;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q96FC9	684	734	685	734	Alternative sequence	ID=VSP_016863;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8798685;Dbxref=PMID:8798685
Q96FC9	684	734	1	970	Chain	ID=PRO_0000055136;Note=ATP-dependent DNA helicase DDX11

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
Q96FC9	131	160	1	970	Chain	ID=PRO_0000055136;Note=ATP-dependent DNA helicase DDX11
Q96FC9	131	160	9	445	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
Q96FC9	684	734	289	970	Alternative sequence	ID=VSP_016862;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.3
Q96FC9	684	734	685	734	Alternative sequence	ID=VSP_016863;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:8798685;Dbxref=PMID:8798685
Q96FC9	684	734	1	970	Chain	ID=PRO_0000055136;Note=ATP-dependent DNA helicase DDX11

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SNVs in the skipped exons for DDX11

- 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
KIRP	TCGA-G7-A8LB-01	exon_skip_81237	31237517	31237603	31237572	31237572	Frame_Shift_Del	G	-	p.R150fs
UCEC	TCGA-BS-A0TA-01	exon_skip_81250	31242337	31242424	31242361	31242361	Frame_Shift_Del	A	-	p.K273fs
BRCA	TCGA-A8-A085-01	exon_skip_81250	31242337	31242424	31242378	31242381	Frame_Shift_Del	GCAG	-	p.Q279fs
LIHC	TCGA-DD-A3A0-01	exon_skip_81254	31246179	31246258	31246185	31246185	Frame_Shift_Del	T	-	p.R432fs
LIHC	TCGA-DD-A39Y-01	exon_skip_81254	31246179	31246258	31246237	31246237	Frame_Shift_Del	A	-	p.K450fs
LIHC	TCGA-DD-A39Y-01	exon_skip_81257	31250819	31250931	31250913	31250913	Frame_Shift_Del	G	-	p.A619fs
HNSC	TCGA-DQ-5625-01	exon_skip_81264	31255177	31255245	31255240	31255241	Frame_Shift_Ins	-	T	p.I756fs
HNSC	TCGA-DQ-5625-01	exon_skip_81264	31255177	31255245	31255240	31255241	Frame_Shift_Ins	-	T	p.P756fs
UCEC	TCGA-EY-A1GS-01	exon_skip_81240 exon_skip_81243	31237903	31238060	31237969	31237969	Nonsense_Mutation	G	T	p.E183*
BLCA	TCGA-MV-A51V-01	exon_skip_81240 exon_skip_81243	31237903	31238060	31237975	31237975	Nonsense_Mutation	G	T	p.E185*
UCEC	TCGA-B5-A0JN-01	exon_skip_81249	31240872	31240917	31240918	31240919	Splice_Site	-	T	p.K228_splice
LIHC	TCGA-DD-AADQ-01	exon_skip_81267	31253961	31254064	31253960	31253961	Splice_Site	-	A	.

- 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
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31256251	31256329	31256272	31256272	Frame_Shift_Del	C	-	p.T825fs
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31256256	31256329	31256272	31256272	Frame_Shift_Del	C	-	p.T825fs
RKO_LARGE_INTESTINE	31231324	31231471	31231437	31231437	Missense_Mutation	G	A	p.G37D
RKO_LARGE_INTESTINE	31231397	31231471	31231437	31231437	Missense_Mutation	G	A	p.G37D
COLO794_SKIN	31237903	31238060	31237939	31237939	Missense_Mutation	C	T	p.L173F
COLO800_SKIN	31237903	31238060	31237939	31237939	Missense_Mutation	C	T	p.L173F
CORL23_LUNG	31237903	31238060	31237957	31237957	Missense_Mutation	G	A	p.E179K
SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31237903	31238060	31237969	31237969	Missense_Mutation	G	A	p.E183K
639V_URINARY_TRACT	31237903	31238060	31238029	31238029	Missense_Mutation	G	A	p.E203K
LCLC97TM1_LUNG	31237903	31238060	31238044	31238044	Missense_Mutation	A	G	p.K208E
HEC108_ENDOMETRIUM	31237903	31238060	31238054	31238054	Missense_Mutation	C	T	p.A211V
HEC108_ENDOMETRIUM	31242337	31242424	31242389	31242389	Missense_Mutation	A	G	p.N282S
SCC15_UPPER_AERODIGESTIVE_TRACT	31242337	31242424	31242421	31242421	Missense_Mutation	C	T	p.H293Y
JHH6_LIVER	31250819	31250931	31250824	31250824	Missense_Mutation	C	T	p.L590F
HOP62_LUNG	31250819	31250931	31250832	31250832	Missense_Mutation	G	C	p.Q592H
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31250819	31250931	31250897	31250897	Missense_Mutation	G	A	p.R614Q
HCT116_LARGE_INTESTINE	31250819	31250931	31250917	31250917	Missense_Mutation	G	A	p.G621S
HUH7_LIVER	31250819	31250931	31250925	31250925	Missense_Mutation	G	C	p.M623I
NCIH1793_LUNG	31250819	31250931	31250925	31250925	Missense_Mutation	G	C	p.M623I
KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31253961	31254064	31253975	31253975	Missense_Mutation	C	T	p.P655S
MZ7B_MATCHED_NORMAL_TISSUE	31253961	31254064	31254030	31254030	Missense_Mutation	A	C	p.E673A
MZ7MEL_SKIN	31253961	31254064	31254030	31254030	Missense_Mutation	A	C	p.E673A
HCC827GR5_LUNG	31253961	31254064	31254036	31254036	Missense_Mutation	C	T	p.T675M
HCC827_LUNG	31253961	31254064	31254036	31254036	Missense_Mutation	C	T	p.T675M
SNU1040_LARGE_INTESTINE	31253961	31254064	31254036	31254036	Missense_Mutation	C	T	p.T675M
MONOMAC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31253961	31254064	31254057	31254057	Missense_Mutation	C	T	p.P682L
HCC1171_LUNG	31254767	31254916	31254824	31254824	Missense_Mutation	G	T	p.V704F
SNU626_CENTRAL_NERVOUS_SYSTEM	31254767	31254916	31254839	31254839	Missense_Mutation	T	A	p.S709T
SNU1040_LARGE_INTESTINE	31254767	31254916	31254854	31254854	Missense_Mutation	C	T	p.R714C
PCI30_UPPER_AERODIGESTIVE_TRACT	31254767	31254916	31254855	31254855	Missense_Mutation	G	A	p.R714H
MDST8_LARGE_INTESTINE	31255870	31255954	31255899	31255899	Missense_Mutation	C	T	p.P801L
MDST8_LARGE_INTESTINE	31255870	31255954	31255899	31255900	Missense_Mutation	CC	TT	p.P801L
OC316_OVARY	31255870	31255954	31255935	31255935	Missense_Mutation	C	T	p.A813V
OC316_OVARY	31255909	31255954	31255935	31255935	Missense_Mutation	C	T	p.A813V
OC314_OVARY	31255870	31255954	31255935	31255935	Missense_Mutation	C	T	p.A813V
OC314_OVARY	31255909	31255954	31255935	31255935	Missense_Mutation	C	T	p.A813V
BICR56_UPPER_AERODIGESTIVE_TRACT	31255870	31255954	31255946	31255946	Missense_Mutation	C	G	p.Q817E
BICR56_UPPER_AERODIGESTIVE_TRACT	31255909	31255954	31255946	31255946	Missense_Mutation	C	G	p.Q817E
WM1799_SKIN	31256251	31256329	31256259	31256259	Missense_Mutation	C	T	p.P821S
WM1799_SKIN	31256256	31256329	31256259	31256259	Missense_Mutation	C	T	p.P821S
NCIH513_PLEURA	31256251	31256329	31256295	31256295	Missense_Mutation	G	A	p.E833K
NCIH513_PLEURA	31256256	31256329	31256295	31256295	Missense_Mutation	G	A	p.E833K
HMC18_BREAST	31256251	31256329	31256305	31256305	Missense_Mutation	A	G	p.H836R
HMC18_BREAST	31256256	31256329	31256305	31256305	Missense_Mutation	A	G	p.H836R
NUGC2_STOMACH	31256251	31256329	31256305	31256305	Missense_Mutation	A	G	p.H836R
NUGC2_STOMACH	31256256	31256329	31256305	31256305	Missense_Mutation	A	G	p.H836R
SNU61_LARGE_INTESTINE	31256251	31256329	31256305	31256305	Missense_Mutation	A	G	p.H836R
SNU61_LARGE_INTESTINE	31256256	31256329	31256305	31256305	Missense_Mutation	A	G	p.H836R
NOS1_BONE	31256251	31256329	31256305	31256305	Missense_Mutation	A	G	p.H836R
NOS1_BONE	31256256	31256329	31256305	31256305	Missense_Mutation	A	G	p.H836R
SBC3_LUNG	31256251	31256329	31256305	31256305	Missense_Mutation	A	G	p.H836R
SBC3_LUNG	31256256	31256329	31256305	31256305	Missense_Mutation	A	G	p.H836R
SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31256251	31256329	31256305	31256305	Missense_Mutation	A	G	p.H836R
SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	31256256	31256329	31256305	31256305	Missense_Mutation	A	G	p.H836R
KG1C_CENTRAL_NERVOUS_SYSTEM	31256251	31256329	31256305	31256305	Missense_Mutation	A	G	p.H836R
KG1C_CENTRAL_NERVOUS_SYSTEM	31256256	31256329	31256305	31256305	Missense_Mutation	A	G	p.H836R
NCIH1355_LUNG	31237517	31237603	31237520	31237520	Nonsense_Mutation	G	T	p.E133*
647V_URINARY_TRACT	31250819	31250931	31250926	31250926	Nonsense_Mutation	C	T	p.Q624*
MDAPCA2B_PROSTATE	31250819	31250931	31250931	31250931	Splice_Site	G	A	p.P625P

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DDX11

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_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	GBM	rs1046456	chr12:31253995	C/T	3.99e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	GBM	rs1046456	chr12:31253995	C/T	4.17e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	CESC	rs1046456	chr12:31253995	C/T	2.68e-12
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	CESC	rs1046456	chr12:31253995	C/T	2.82e-08
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	CESC	rs1046456	chr12:31253995	C/T	4.42e-07
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	CESC	rs1046456	chr12:31253995	C/T	5.30e-07
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	COAD	rs1046456	chr12:31253995	C/T	5.20e-19
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	COAD	rs1046456	chr12:31253995	C/T	5.05e-05
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	COAD	rs1046456	chr12:31253995	C/T	2.35e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	COAD	rs1046456	chr12:31253995	C/T	8.54e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	COAD	rs1046456	chr12:31253995	C/T	9.79e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	BLCA	rs1046456	chr12:31253995	C/T	1.66e-13
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	BLCA	rs1046456	chr12:31253995	C/T	9.55e-08
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	BLCA	rs1046456	chr12:31253995	C/T	3.99e-07
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	BLCA	rs1046456	chr12:31253995	C/T	1.29e-06
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	BLCA	rs1046456	chr12:31253995	C/T	1.31e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	BLCA	rs1046456	chr12:31253995	C/T	3.15e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	BLCA	rs1046456	chr12:31253995	C/T	5.18e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	BLCA	rs1046456	chr12:31253995	C/T	8.89e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	ESCA	rs1046456	chr12:31253995	C/T	4.13e-14
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	ESCA	rs1046456	chr12:31253995	C/T	1.93e-09
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	HNSC	rs1046456	chr12:31253995	C/T	2.89e-17
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	HNSC	rs1046456	chr12:31253995	C/T	4.16e-12
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	HNSC	rs1046456	chr12:31253995	C/T	6.09e-12
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	HNSC	rs1046456	chr12:31253995	C/T	6.52e-08
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	HNSC	rs1046456	chr12:31253995	C/T	1.14e-05
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	HNSC	rs1046456	chr12:31253995	C/T	9.63e-05
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	HNSC	rs1046456	chr12:31253995	C/T	9.66e-05
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	HNSC	rs1046456	chr12:31253995	C/T	1.88e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	HNSC	rs1046456	chr12:31253995	C/T	2.59e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	HNSC	rs1046456	chr12:31253995	C/T	1.18e-03
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	BRCA	rs1046456	chr12:31253995	C/T	4.52e-27
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	BRCA	rs1046456	chr12:31253995	C/T	8.75e-27
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	BRCA	rs1046456	chr12:31253995	C/T	5.47e-24
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	BRCA	rs1046456	chr12:31253995	C/T	1.99e-22
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	BRCA	rs1046456	chr12:31253995	C/T	8.76e-18
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	BRCA	rs1046456	chr12:31253995	C/T	2.07e-15
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	BRCA	rs1046456	chr12:31253995	C/T	3.11e-12
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	BRCA	rs1046456	chr12:31253995	C/T	1.03e-05
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	BRCA	rs1046456	chr12:31253995	C/T	2.30e-05
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	BRCA	rs1046456	chr12:31253995	C/T	3.72e-05
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	BRCA	rs1046456	chr12:31253995	C/T	2.86e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	KICH	rs1046456	chr12:31253995	C/T	6.33e-07
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	KICH	rs1046456	chr12:31253995	C/T	9.47e-05
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	KICH	rs1046456	chr12:31253995	C/T	1.35e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	KICH	rs1046456	chr12:31253995	C/T	1.56e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	KIRP	rs1046456	chr12:31253995	C/T	7.56e-22
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	KIRP	rs1046456	chr12:31253995	C/T	1.39e-12
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	KIRP	rs1046456	chr12:31253995	C/T	7.65e-11
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	KIRP	rs1046456	chr12:31253995	C/T	2.79e-06
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LGG	rs1046456	chr12:31253995	C/T	1.09e-21
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LGG	rs1046456	chr12:31253995	C/T	6.02e-18
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LGG	rs1046456	chr12:31253995	C/T	2.31e-16
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LGG	rs1046456	chr12:31253995	C/T	4.16e-14
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LGG	rs1046456	chr12:31253995	C/T	2.58e-12
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LGG	rs1046456	chr12:31253995	C/T	7.05e-12
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LGG	rs1046456	chr12:31253995	C/T	6.41e-10
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LGG	rs1046456	chr12:31253995	C/T	6.42e-10
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LGG	rs1046456	chr12:31253995	C/T	7.36e-07
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LGG	rs1046456	chr12:31253995	C/T	8.96e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	KIRC	rs1046456	chr12:31253995	C/T	7.24e-24
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	KIRC	rs1046456	chr12:31253995	C/T	8.92e-13
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	KIRC	rs1046456	chr12:31253995	C/T	7.06e-10
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	KIRC	rs1046456	chr12:31253995	C/T	1.84e-07
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	KIRC	rs1046456	chr12:31253995	C/T	2.73e-07
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	KIRC	rs1046456	chr12:31253995	C/T	1.09e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	KIRC	rs1046456	chr12:31253995	C/T	1.93e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	KIRC	rs1046456	chr12:31253995	C/T	8.77e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	KIRC	rs1046456	chr12:31253995	C/T	8.81e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LUAD	rs1046456	chr12:31253995	C/T	6.40e-24
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LUAD	rs1046456	chr12:31253995	C/T	2.02e-17
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LUAD	rs1046456	chr12:31253995	C/T	4.43e-14
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LUAD	rs1046456	chr12:31253995	C/T	3.36e-11
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LUAD	rs1046456	chr12:31253995	C/T	3.82e-11
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LUAD	rs1046456	chr12:31253995	C/T	1.85e-06
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LUAD	rs1046456	chr12:31253995	C/T	4.53e-05
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LIHC	rs1046456	chr12:31253995	C/T	1.44e-03
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LUSC	rs1046456	chr12:31253995	C/T	2.19e-19
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LUSC	rs1046456	chr12:31253995	C/T	2.18e-11
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LUSC	rs1046456	chr12:31253995	C/T	2.18e-11
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LUSC	rs1046456	chr12:31253995	C/T	2.44e-07
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LUSC	rs1046456	chr12:31253995	C/T	3.03e-05
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LUSC	rs1046456	chr12:31253995	C/T	3.69e-05
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	LUSC	rs1046456	chr12:31253995	C/T	9.78e-05
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	OV	rs1046456	chr12:31253995	C/T	6.49e-20
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	OV	rs1046456	chr12:31253995	C/T	4.69e-07
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	OV	rs1046456	chr12:31253995	C/T	6.39e-06
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	OV	rs1046456	chr12:31253995	C/T	2.35e-03
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	PCPG	rs1046456	chr12:31253995	C/T	3.48e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	PAAD	rs1046456	chr12:31253995	C/T	2.54e-08
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	PAAD	rs1046456	chr12:31253995	C/T	3.63e-08
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	PAAD	rs1046456	chr12:31253995	C/T	4.04e-07
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	PAAD	rs1046456	chr12:31253995	C/T	3.26e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	PAAD	rs1046456	chr12:31253995	C/T	4.51e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	PAAD	rs1046456	chr12:31253995	C/T	9.17e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	PRAD	rs1046456	chr12:31253995	C/T	1.01e-36
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	PRAD	rs1046456	chr12:31253995	C/T	3.06e-26
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	PRAD	rs1046456	chr12:31253995	C/T	1.12e-20
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	PRAD	rs1046456	chr12:31253995	C/T	2.88e-14
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	PRAD	rs1046456	chr12:31253995	C/T	5.01e-11
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	PRAD	rs1046456	chr12:31253995	C/T	8.08e-07
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	PRAD	rs1046456	chr12:31253995	C/T	5.85e-05
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	PRAD	rs1046456	chr12:31253995	C/T	3.24e-03
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	SARC	rs1046456	chr12:31253995	C/T	1.06e-10
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	SARC	rs1046456	chr12:31253995	C/T	3.04e-09
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	SARC	rs1046456	chr12:31253995	C/T	2.56e-07
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	SARC	rs1046456	chr12:31253995	C/T	2.01e-05
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	SARC	rs1046456	chr12:31253995	C/T	6.16e-05
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	SARC	rs1046456	chr12:31253995	C/T	6.16e-05
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	SARC	rs1046456	chr12:31253995	C/T	6.00e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	SARC	rs1046456	chr12:31253995	C/T	9.32e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	THYM	rs1046456	chr12:31253995	C/T	1.34e-05
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	THYM	rs1046456	chr12:31253995	C/T	8.55e-05
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	THYM	rs1046456	chr12:31253995	C/T	5.76e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	TGCT	rs1046456	chr12:31253995	C/T	7.47e-15
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	TGCT	rs1046456	chr12:31253995	C/T	7.68e-09
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	TGCT	rs1046456	chr12:31253995	C/T	5.77e-05
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	TGCT	rs1046456	chr12:31253995	C/T	3.22e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	SKCM	rs1046456	chr12:31253995	C/T	5.60e-05
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	STAD	rs1046456	chr12:31253995	C/T	6.25e-12
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	STAD	rs1046456	chr12:31253995	C/T	1.71e-09
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	THCA	rs1046456	chr12:31253995	C/T	1.96e-31
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	THCA	rs1046456	chr12:31253995	C/T	1.72e-27
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	THCA	rs1046456	chr12:31253995	C/T	5.33e-11
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	THCA	rs1046456	chr12:31253995	C/T	9.12e-10
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	THCA	rs1046456	chr12:31253995	C/T	1.24e-06
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	THCA	rs1046456	chr12:31253995	C/T	2.48e-06
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	THCA	rs1046456	chr12:31253995	C/T	1.55e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	THCA	rs1046456	chr12:31253995	C/T	1.56e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	THCA	rs1046456	chr12:31253995	C/T	2.38e-03
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	UVM	rs1046456	chr12:31253995	C/T	1.02e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	UVM	rs1046456	chr12:31253995	C/T	1.84e-04
exon_skip_81267	12	31253568:31253641:31253960:31254064:31255176:31255195	31253960:31254064	ENST00000350437.4	UCEC	rs1046456	chr12:31253995	C/T	3.01e-05

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DDX11

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DDX11

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RelatedDrugs for DDX11

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 DDX11

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
DDX11	C0376628	Chromosome Breakage	1	CTD_human
DDX11	C3150658	WARSAW BREAKAGE SYNDROME	1	CTD_human;ORPHANET;UNIPROT

	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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