ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for DDX6

Gene summary

Gene information	Gene symbol	DDX6
	Gene ID	1656
	Gene name	DEAD-box helicase 6
	Synonyms	HLR2\|P54\|RCK
	Cytomap	11q23.3
	Type of gene	protein-coding
	Description	probable ATP-dependent RNA helicase DDX6ATP-dependent RNA helicase p54DEAD (Asp-Glu-Ala-Asp) box helicase 6DEAD (Asp-Glu-Ala-Asp) box polypeptide 6DEAD box protein 6DEAD box-6DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)oncoge
	Modification date	20180522
	UniProtAcc	P26196
	Context	PubMed: DDX6 [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
DDX6	GO:0033962	cytoplasmic mRNA processing body assembly	20826699

Top

Exon skipping events across known transcript of Ensembl for DDX6 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.

Top

Gene isoform structures and expression levels for DDX6

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

Top

Exon skipping events with PSIs in TCGA for DDX6

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_77825	11	118627879:118627996:118629482:118629611:118630630:118630753	118629482:118629611	ENSG00000110367.7	ENST00000264018.4,ENST00000534980.1,ENST00000526070.2
exon_skip_77829	11	118633920:118634015:118635916:118636063:118638930:118639060	118635916:118636063	ENSG00000110367.7	ENST00000264018.4,ENST00000534980.1,ENST00000526070.2
exon_skip_77831	11	118635916:118636063:118638930:118639060:118650340:118650445	118638930:118639060	ENSG00000110367.7	ENST00000264018.4,ENST00000534980.1,ENST00000526070.2
exon_skip_77832	11	118638930:118639060:118650340:118650445:118651829:118651893	118650340:118650445	ENSG00000110367.7	ENST00000264018.4,ENST00000534980.1,ENST00000526070.2
exon_skip_77835	11	118650340:118650445:118651829:118651893:118656760:118657227	118651829:118651893	ENSG00000110367.7	ENST00000264018.4,ENST00000534980.1,ENST00000526070.2

PSI values of skipped exons in TCGA.

Top

Exon skipping events with PSIs in GTEx for DDX6

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_77825	11	118627879:118627996:118629482:118629611:118630630:118630753	118629482:118629611	ENSG00000110367.7	ENST00000264018.4,ENST00000534980.1,ENST00000526070.2
exon_skip_77829	11	118633920:118634015:118635916:118636063:118638930:118639060	118635916:118636063	ENSG00000110367.7	ENST00000264018.4,ENST00000534980.1,ENST00000526070.2
exon_skip_77831	11	118635916:118636063:118638930:118639060:118650340:118650445	118638930:118639060	ENSG00000110367.7	ENST00000264018.4,ENST00000534980.1,ENST00000526070.2
exon_skip_77832	11	118638930:118639060:118650340:118650445:118651829:118651893	118650340:118650445	ENSG00000110367.7	ENST00000264018.4,ENST00000534980.1,ENST00000526070.2
exon_skip_77835	11	118650340:118650445:118651829:118651893:118656760:118657227	118651829:118651893	ENSG00000110367.7	ENST00000264018.4,ENST00000534980.1,ENST00000526070.2

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for DDX6

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
ENST00000526070	118638930	118639060	Frame-shift
ENST00000534980	118638930	118639060	Frame-shift
ENST00000526070	118651829	118651893	Frame-shift
ENST00000534980	118651829	118651893	Frame-shift
ENST00000526070	118629482	118629611	In-frame
ENST00000534980	118629482	118629611	In-frame
ENST00000526070	118635916	118636063	In-frame
ENST00000534980	118635916	118636063	In-frame
ENST00000526070	118650340	118650445	In-frame
ENST00000534980	118650340	118650445	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
ENST00000526070	118638930	118639060	Frame-shift
ENST00000534980	118638930	118639060	Frame-shift
ENST00000526070	118651829	118651893	Frame-shift
ENST00000534980	118651829	118651893	Frame-shift
ENST00000526070	118629482	118629611	In-frame
ENST00000534980	118629482	118629611	In-frame
ENST00000526070	118635916	118636063	In-frame
ENST00000534980	118635916	118636063	In-frame
ENST00000526070	118650340	118650445	In-frame
ENST00000534980	118650340	118650445	In-frame

Top

Infer the effects of exon skipping event on protein functional features for DDX6

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
ENST00000526070	1953	483	118650340	118650445	626	730	88	123
ENST00000534980	2558	483	118650340	118650445	557	661	88	123
ENST00000526070	1953	483	118635916	118636063	861	1007	166	215
ENST00000534980	2558	483	118635916	118636063	792	938	166	215
ENST00000526070	1953	483	118629482	118629611	1226	1354	288	331
ENST00000534980	2558	483	118629482	118629611	1157	1285	288	331

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
ENST00000526070	1953	483	118650340	118650445	626	730	88	123
ENST00000534980	2558	483	118650340	118650445	557	661	88	123
ENST00000526070	1953	483	118635916	118636063	861	1007	166	215
ENST00000534980	2558	483	118635916	118636063	792	938	166	215
ENST00000526070	1953	483	118629482	118629611	1226	1354	288	331
ENST00000534980	2558	483	118629482	118629611	1157	1285	288	331

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
P26196	88	123	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	88	123	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	88	123	98	100	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	88	123	98	100	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	88	123	105	112	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	88	123	105	112	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	88	123	121	131	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	88	123	121	131	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	88	123	96	124	Motif	Note=Q motif
P26196	88	123	96	124	Motif	Note=Q motif
P26196	88	123	113	115	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	88	123	113	115	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	167	170	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	167	170	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	191	193	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	191	193	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	196	199	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	196	199	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	201	203	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	201	203	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	166	215	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	166	215	127	298	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P26196	166	215	127	298	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P26196	166	215	174	187	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	174	187	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	205	211	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	205	211	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	188	190	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	188	190	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	331	296	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	331	296	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	331	309	315	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	331	309	315	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	331	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	288	331	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	288	331	127	298	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P26196	288	331	127	298	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P26196	288	331	308	468	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P26196	288	331	308	468	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P26196	288	331	282	291	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	331	282	291	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	331	318	320	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	331	318	320	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	331	321	331	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	331	321	331	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	331	320	320	Mutagenesis	Note=Abolishes interaction with EDC3%3B when associated with A-323%3B A-327 and A-331. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19285948;Dbxref=PMID:19285948
P26196	288	331	320	320	Mutagenesis	Note=Abolishes interaction with EDC3%3B when associated with A-323%3B A-327 and A-331. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19285948;Dbxref=PMID:19285948
P26196	288	331	323	323	Mutagenesis	Note=Abolishes interaction with EDC3%3B when associated with A-320%3B A-327 and A-331. H->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19285948;Dbxref=PMID:19285948
P26196	288	331	323	323	Mutagenesis	Note=Abolishes interaction with EDC3%3B when associated with A-320%3B A-327 and A-331. H->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19285948;Dbxref=PMID:19285948
P26196	288	331	327	327	Mutagenesis	Note=Abolishes interaction with EDC3%3B when associated with A-320%3B A-323 and A-331. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19285948;Dbxref=PMID:19285948
P26196	288	331	327	327	Mutagenesis	Note=Abolishes interaction with EDC3%3B when associated with A-320%3B A-323 and A-331. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19285948;Dbxref=PMID:19285948
P26196	288	331	331	331	Mutagenesis	Note=Abolishes interaction with EDC3%3B when associated with A-320%3B A-323 and A-327. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19285948;Dbxref=PMID:19285948
P26196	288	331	331	331	Mutagenesis	Note=Abolishes interaction with EDC3%3B when associated with A-320%3B A-323 and A-327. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19285948;Dbxref=PMID:19285948
P26196	288	331	293	293	Sequence conflict	Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
P26196	288	331	293	293	Sequence conflict	Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
P26196	88	123	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	88	123	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	88	123	98	100	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	88	123	98	100	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	88	123	105	112	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	88	123	105	112	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	88	123	121	131	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	88	123	121	131	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	88	123	96	124	Motif	Note=Q motif
P26196	88	123	96	124	Motif	Note=Q motif
P26196	88	123	113	115	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	88	123	113	115	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	167	170	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	167	170	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	191	193	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	191	193	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	196	199	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	196	199	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	201	203	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	201	203	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	166	215	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	166	215	127	298	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P26196	166	215	127	298	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P26196	166	215	174	187	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	174	187	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	205	211	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	205	211	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	188	190	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	166	215	188	190	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	331	296	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	331	296	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	331	309	315	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	331	309	315	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	331	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	288	331	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	288	331	127	298	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P26196	288	331	127	298	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P26196	288	331	308	468	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P26196	288	331	308	468	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P26196	288	331	282	291	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	331	282	291	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	331	318	320	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	331	318	320	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	331	321	331	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	331	321	331	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	331	320	320	Mutagenesis	Note=Abolishes interaction with EDC3%3B when associated with A-323%3B A-327 and A-331. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19285948;Dbxref=PMID:19285948
P26196	288	331	320	320	Mutagenesis	Note=Abolishes interaction with EDC3%3B when associated with A-323%3B A-327 and A-331. Q->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19285948;Dbxref=PMID:19285948
P26196	288	331	323	323	Mutagenesis	Note=Abolishes interaction with EDC3%3B when associated with A-320%3B A-327 and A-331. H->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19285948;Dbxref=PMID:19285948
P26196	288	331	323	323	Mutagenesis	Note=Abolishes interaction with EDC3%3B when associated with A-320%3B A-327 and A-331. H->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19285948;Dbxref=PMID:19285948
P26196	288	331	327	327	Mutagenesis	Note=Abolishes interaction with EDC3%3B when associated with A-320%3B A-323 and A-331. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19285948;Dbxref=PMID:19285948
P26196	288	331	327	327	Mutagenesis	Note=Abolishes interaction with EDC3%3B when associated with A-320%3B A-323 and A-331. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19285948;Dbxref=PMID:19285948
P26196	288	331	331	331	Mutagenesis	Note=Abolishes interaction with EDC3%3B when associated with A-320%3B A-323 and A-327. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19285948;Dbxref=PMID:19285948
P26196	288	331	331	331	Mutagenesis	Note=Abolishes interaction with EDC3%3B when associated with A-320%3B A-323 and A-327. R->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19285948;Dbxref=PMID:19285948
P26196	288	331	293	293	Sequence conflict	Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
P26196	288	331	293	293	Sequence conflict	Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305

Top

SNVs in the skipped exons for DDX6

- 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-DD-A1EG-01	exon_skip_77825	118629483	118629611	118629513	118629513	Frame_Shift_Del	T	-	p.K321fs
STAD	TCGA-CG-4442-01	exon_skip_77825	118629483	118629611	118629513	118629513	Frame_Shift_Del	T	-	p.K321fs
STAD	TCGA-CG-4442-01	exon_skip_77825	118629483	118629611	118629513	118629513	Frame_Shift_Del	T	-	p.V322fs
LIHC	TCGA-DD-A39Y-01	exon_skip_77831	118638931	118639060	118639005	118639005	Frame_Shift_Del	T	-	p.N142fs
COAD	TCGA-CK-5913-01	exon_skip_77835	118651830	118651893	118651863	118651863	Frame_Shift_Del	T	-	p.L78fs
KIRC	TCGA-B0-4710-01	exon_skip_77829	118635917	118636063	118635936	118635937	Frame_Shift_Ins	-	A	p.I209fs
ACC	TCGA-OR-A5J5-01	exon_skip_77829	118635917	118636063	118635947	118635947	Nonsense_Mutation	G	A	p.R206*
ACC	TCGA-OR-A5J5-01	exon_skip_77829	118635917	118636063	118635947	118635947	Nonsense_Mutation	G	A	p.R206X
UCEC	TCGA-AX-A05Z-01	exon_skip_77829	118635917	118636063	118636040	118636040	Nonsense_Mutation	C	A	p.E175*
COAD	TCGA-A6-5661-01	exon_skip_77825	118629483	118629611	118629613	118629614	Splice_Site	-	G	.
COAD	TCGA-AY-6197-01	exon_skip_77825	118629483	118629611	118629613	118629614	Splice_Site	-	G	.
COAD	TCGA-CK-5916-01	exon_skip_77825	118629483	118629611	118629613	118629614	Splice_Site	-	G	.
UCEC	TCGA-B5-A0K2-01	exon_skip_77825	118629483	118629611	118629613	118629614	Splice_Site	-	G	p.N289_splice
UCEC	TCGA-B5-A0K7-01	exon_skip_77825	118629483	118629611	118629613	118629614	Splice_Site	-	G	p.N289_splice
UCEC	TCGA-BG-A0M3-01	exon_skip_77825	118629483	118629611	118629613	118629614	Splice_Site	-	G	p.N289_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
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118635917	118636063	118635938	118635938	Missense_Mutation	T	C	p.I209V
BICR18_UPPER_AERODIGESTIVE_TRACT	118635917	118636063	118635938	118635938	Missense_Mutation	T	C	p.I209V
S117_SOFT_TISSUE	118635917	118636063	118635938	118635938	Missense_Mutation	T	C	p.I209V
NCIH1563_LUNG	118638931	118639060	118639045	118639045	Missense_Mutation	T	C	p.I129V
YD10B_UPPER_AERODIGESTIVE_TRACT	118638931	118639060	118639047	118639047	Missense_Mutation	G	A	p.P128L
NCIH1648_LUNG	118650341	118650445	118650373	118650373	Missense_Mutation	C	G	p.E113Q
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118635917	118636063	118635947	118635947	Nonsense_Mutation	G	A	p.R206*
JHUEM1_ENDOMETRIUM	118635917	118636063	118635962	118635962	Nonsense_Mutation	C	A	p.G201*
HMC18_BREAST	118629483	118629611	118629610	118629610	Splice_Site	T	C	p.N289S
MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118629483	118629611	118629610	118629610	Splice_Site	T	C	p.N289S
KE97_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118629483	118629611	118629610	118629610	Splice_Site	T	C	p.N289S
KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	118629483	118629611	118629610	118629610	Splice_Site	T	C	p.N289S
HEC251_ENDOMETRIUM	118651830	118651893	118651831	118651831	Splice_Site	G	A	p.S88L

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DDX6

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

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DDX6

Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DDX6

Top

RelatedDrugs for DDX6

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

Top

RelatedDiseases for DDX6

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
DDX6	C0003873	Rheumatoid Arthritis	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

Home

Download

Statistics

Landscape

Help

Contact