ExonSkipAD: 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\|IDDILF\|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	20200327
	UniProtAcc	P26196, Q8IV96,
	Context

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

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Gene structures and expression levels for DDX6

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000110367

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
PCC	UP	ENST00000617381.4	DDX6-207:protein_coding:DDX6	5.435392e+01	4.519100e+00	1.402102e-04	7.487375e-03
CB	UP	ENST00000526070.2	DDX6-202:protein_coding:DDX6	1.329850e+01	1.479493e+00	1.035788e-10	6.492532e-09
CB	UP	ENST00000529162.1	DDX6-203:retained_intron:DDX6	2.483221e+01	8.181730e-01	1.097629e-08	3.254637e-07

Landscape of isoform expressions across multiple brain tissues between AD and control.

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for DDX6

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_137227	chr11	118754705:118754887:118755402:118755503:118756260:118756323	118755402:118755503
exon_skip_250384	chr11	118765308:118765355:118768223:118768352:118779632:118779736	118768223:118768352
exon_skip_259791	chr11	118763212:118763306:118765209:118765355:118768223:118768352	118765209:118765355
exon_skip_273090	chr11	118757171:118757287:118758774:118758902:118759922:118760044	118758774:118758902
exon_skip_277361	chr11	118779632:118779736:118781121:118781184:118786052:118786518	118781121:118781184
exon_skip_49868	chr11	118781121:118781184:118786052:118786518:118791098:118791136	118786052:118786518
exon_skip_50615	chr11	118768223:118768352:118786052:118786518:118791098:118791136	118786052:118786518
exon_skip_76521	chr11	118757263:118757287:118758774:118758902:118759922:118760044	118758774:118758902

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

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

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000526070	118768223	118768352	Frame-shift
ENST00000534980	118768223	118768352	Frame-shift
ENST00000620157	118768223	118768352	Frame-shift
ENST00000526070	118755402	118755503	In-frame
ENST00000534980	118755402	118755503	In-frame
ENST00000620157	118755402	118755503	In-frame
ENST00000526070	118758774	118758902	In-frame
ENST00000534980	118758774	118758902	In-frame
ENST00000620157	118758774	118758902	In-frame
ENST00000526070	118765209	118765355	In-frame
ENST00000534980	118765209	118765355	In-frame
ENST00000620157	118765209	118765355	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000526070	118768223	118768352	Frame-shift
ENST00000534980	118768223	118768352	Frame-shift
ENST00000620157	118768223	118768352	Frame-shift
ENST00000526070	118781121	118781184	Frame-shift
ENST00000534980	118781121	118781184	Frame-shift
ENST00000620157	118781121	118781184	Frame-shift
ENST00000526070	118758774	118758902	In-frame
ENST00000534980	118758774	118758902	In-frame
ENST00000620157	118758774	118758902	In-frame
ENST00000526070	118765209	118765355	In-frame
ENST00000534980	118765209	118765355	In-frame
ENST00000620157	118765209	118765355	In-frame

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000526070	118768223	118768352	Frame-shift
ENST00000534980	118768223	118768352	Frame-shift
ENST00000620157	118768223	118768352	Frame-shift
ENST00000526070	118781121	118781184	Frame-shift
ENST00000534980	118781121	118781184	Frame-shift
ENST00000620157	118781121	118781184	Frame-shift
ENST00000526070	118758774	118758902	In-frame
ENST00000534980	118758774	118758902	In-frame
ENST00000620157	118758774	118758902	In-frame
ENST00000526070	118765209	118765355	In-frame
ENST00000534980	118765209	118765355	In-frame
ENST00000620157	118765209	118765355	In-frame

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

p-ENSG00000110367_img4.png
boxplot

Loci of skipped exons in ROSMAP 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	118765209	118765355	861	1006	166	215
ENST00000534980	4555	483	118765209	118765355	806	951	166	215
ENST00000620157	6169	483	118765209	118765355	861	1006	166	215
ENST00000526070	1953	483	118758774	118758902	1226	1353	288	330
ENST00000534980	4555	483	118758774	118758902	1171	1298	288	330
ENST00000620157	6169	483	118758774	118758902	1226	1353	288	330
ENST00000526070	1953	483	118755402	118755503	1536	1636	391	425
ENST00000534980	4555	483	118755402	118755503	1481	1581	391	425
ENST00000620157	6169	483	118755402	118755503	1536	1636	391	425

Loci of skipped exons in MSBB 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	118765209	118765355	861	1006	166	215
ENST00000534980	4555	483	118765209	118765355	806	951	166	215
ENST00000620157	6169	483	118765209	118765355	861	1006	166	215
ENST00000526070	1953	483	118758774	118758902	1226	1353	288	330
ENST00000534980	4555	483	118758774	118758902	1171	1298	288	330
ENST00000620157	6169	483	118758774	118758902	1226	1353	288	330

Loci of skipped exons in Mayo 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	118765209	118765355	861	1006	166	215
ENST00000534980	4555	483	118765209	118765355	806	951	166	215
ENST00000620157	6169	483	118765209	118765355	861	1006	166	215
ENST00000526070	1953	483	118758774	118758902	1226	1353	288	330
ENST00000534980	4555	483	118758774	118758902	1171	1298	288	330
ENST00000620157	6169	483	118758774	118758902	1226	1353	288	330

Lost protein functional features of individual exon skipping events in ROSMAP.

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	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	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	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	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	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	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	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	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	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	166	215	188	190	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	296	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	296	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	296	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	309	315	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	309	315	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	309	315	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	288	330	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	288	330	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	288	330	127	298	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P26196	288	330	127	298	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P26196	288	330	127	298	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P26196	288	330	308	468	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P26196	288	330	308	468	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P26196	288	330	308	468	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P26196	288	330	282	291	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	282	291	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	282	291	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	318	320	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	318	320	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	318	320	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	321	331	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	321	331	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	321	331	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	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	330	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	330	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	330	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	330	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	330	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	330	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	330	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	330	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	330	293	293	Sequence conflict	Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
P26196	288	330	293	293	Sequence conflict	Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
P26196	288	330	293	293	Sequence conflict	Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
P26196	391	425	403	410	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	391	425	403	410	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	391	425	403	410	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	391	425	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	391	425	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	391	425	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	391	425	308	468	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P26196	391	425	308	468	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P26196	391	425	308	468	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P26196	391	425	397	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CT4
P26196	391	425	397	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CT4
P26196	391	425	397	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CT4
P26196	391	425	415	422	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	391	425	415	422	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	391	425	415	422	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	391	425	423	425	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	391	425	423	425	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	391	425	423	425	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW

Lost protein functional features of individual exon skipping events in MSBB.

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	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	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	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	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	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	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	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	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	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	166	215	188	190	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	296	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	296	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	296	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	309	315	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	309	315	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	309	315	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	288	330	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	288	330	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	288	330	127	298	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P26196	288	330	127	298	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P26196	288	330	127	298	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P26196	288	330	308	468	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P26196	288	330	308	468	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P26196	288	330	308	468	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P26196	288	330	282	291	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	282	291	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	282	291	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	318	320	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	318	320	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	318	320	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	321	331	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	321	331	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	321	331	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	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	330	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	330	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	330	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	330	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	330	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	330	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	330	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	330	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	330	293	293	Sequence conflict	Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
P26196	288	330	293	293	Sequence conflict	Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
P26196	288	330	293	293	Sequence conflict	Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305

Lost protein functional features of individual exon skipping events in Mayo.

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	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	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	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	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	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	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	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	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	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	166	215	188	190	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	296	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	296	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	296	298	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	309	315	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	309	315	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	309	315	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	288	330	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	288	330	1	483	Chain	ID=PRO_0000054983;Note=Probable ATP-dependent RNA helicase DDX6
P26196	288	330	127	298	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P26196	288	330	127	298	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P26196	288	330	127	298	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P26196	288	330	308	468	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P26196	288	330	308	468	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P26196	288	330	308	468	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P26196	288	330	282	291	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	282	291	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	282	291	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1VEC
P26196	288	330	318	320	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	318	320	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	318	320	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	321	331	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	321	331	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	321	331	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4CRW
P26196	288	330	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	330	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	330	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	330	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	330	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	330	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	330	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	330	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	330	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	330	293	293	Sequence conflict	Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
P26196	288	330	293	293	Sequence conflict	Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
P26196	288	330	293	293	Sequence conflict	Note=Q->E;Ontology_term=ECO:0000305;evidence=ECO:0000305

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3'-UTR located exon skipping events that lost miRNA binding sites in DDX6

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

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SNVs in the skipped exons for DDX6

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

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AD stage-associated exon skippint events for DDX6

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

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

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for DDX6

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for DDX6

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for DDX6

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

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Gene summary for DDX6

Gene structures and expression levels for DDX6

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for DDX6

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

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

3'-UTR located exon skipping events that lost miRNA binding sites in DDX6

SNVs in the skipped exons for DDX6

AD stage-associated exon skippint events for DDX6

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

Correlation with RNA binding proteins (RBPs) for DDX6

RelatedDrugs for DDX6

RelatedDiseases for DDX6