ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for DDX5

Gene summary

Gene information	Gene symbol	DDX5
	Gene ID	1655
	Gene name	DEAD-box helicase 5
	Synonyms	G17P1\|HLR1\|HUMP68\|p68
	Cytomap	17q23.3
	Type of gene	protein-coding
	Description	probable ATP-dependent RNA helicase DDX5ATP-dependent RNA helicase DDX5DEAD (Asp-Glu-Ala-Asp) box helicase 5DEAD (Asp-Glu-Ala-Asp) box polypeptide 5DEAD box protein 5DEAD box-5DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)RNA h
	Modification date	20180522
	UniProtAcc	P17844
	Context	PubMed: DDX5 [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
DDX5	GO:0000122	negative regulation of transcription by RNA polymerase II	15298701
DDX5	GO:0000381	regulation of alternative mRNA splicing, via spliceosome	21343338
DDX5	GO:0000956	nuclear-transcribed mRNA catabolic process	23788676

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Exon skipping events across known transcript of Ensembl for DDX5 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 DDX5

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 DDX5

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_292447	17	62496302:62496444:62496666:62496891:62498127:62498187	62496666:62496891	ENSG00000108654.7	ENST00000225792.5,ENST00000581693.1,ENST00000578804.1,ENST00000540698.2,ENST00000450599.2,ENST00000578758.1
exon_skip_292449	17	62496302:62496444:62496666:62498187:62498279:62498341	62496666:62498187	ENSG00000108654.7	ENST00000581230.1
exon_skip_292458	17	62496666:62496891:62497174:62497261:62497378:62498020	62497174:62497261	ENSG00000108654.7	ENST00000580026.1
exon_skip_292461	17	62496666:62496891:62498127:62498187:62498279:62498341	62498127:62498187	ENSG00000108654.7	ENST00000225792.5,ENST00000581693.1,ENST00000578804.1,ENST00000540698.2,ENST00000450599.2,ENST00000578758.1
exon_skip_292466	17	62498279:62498341:62498556:62498667:62499043:62499214	62498556:62498667	ENSG00000108654.7	ENST00000225792.5,ENST00000581693.1,ENST00000581230.1,ENST00000578804.1,ENST00000540698.2,ENST00000450599.2,ENST00000578491.1
exon_skip_292468	17	62498556:62498667:62499043:62499216:62499305:62499364	62499043:62499216	ENSG00000108654.7	ENST00000225792.5,ENST00000581693.1,ENST00000581230.1,ENST00000578804.1,ENST00000579461.1,ENST00000540698.2,ENST00000579996.1,ENST00000450599.2
exon_skip_292470	17	62499685:62499689:62499920:62499986:62500100:62500139	62499920:62499986	ENSG00000108654.7	ENST00000225792.5,ENST00000581693.1,ENST00000581230.1,ENST00000578804.1,ENST00000583894.1,ENST00000577922.1,ENST00000581697.1,ENST00000540698.2
exon_skip_292475	17	62500100:62500234:62500339:62500436:62500794:62500960	62500339:62500436	ENSG00000108654.7	ENST00000583212.1,ENST00000225792.5,ENST00000583239.1,ENST00000581230.1,ENST00000578804.1,ENST00000585060.1,ENST00000578190.1,ENST00000577922.1,ENST00000584279.1,ENST00000581697.1,ENST00000579091.1,ENST00000581806.1
exon_skip_292482	17	62500390:62500436:62500794:62500960:62502193:62502377	62500794:62500960	ENSG00000108654.7	ENST00000225792.5,ENST00000581230.1,ENST00000577922.1,ENST00000584279.1,ENST00000578400.1,ENST00000450599.2
exon_skip_292483	17	62500390:62500436:62500794:62500998:62502193:62502407	62500794:62500998	ENSG00000108654.7	ENST00000585060.1
exon_skip_292486	17	62500794:62500960:62502193:62502377:62502631:62502744	62502193:62502377	ENSG00000108654.7	ENST00000577922.1
exon_skip_292489	17	62500794:62500960:62502193:62502380:62502631:62502744	62502193:62502380	ENSG00000108654.7	ENST00000584279.1
exon_skip_292490	17	62500872:62500960:62502193:62502380:62502872:62503021	62502193:62502380	ENSG00000108654.7	ENST00000585111.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for DDX5

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_292447	17	62496302:62496444:62496666:62496891:62498127:62498187	62496666:62496891	ENSG00000108654.7	ENST00000540698.2,ENST00000581693.1,ENST00000225792.5,ENST00000450599.2,ENST00000578804.1,ENST00000578758.1
exon_skip_292449	17	62496302:62496444:62496666:62498187:62498279:62498341	62496666:62498187	ENSG00000108654.7	ENST00000581230.1
exon_skip_292458	17	62496666:62496891:62497174:62497261:62497378:62498020	62497174:62497261	ENSG00000108654.7	ENST00000580026.1
exon_skip_292461	17	62496666:62496891:62498127:62498187:62498279:62498341	62498127:62498187	ENSG00000108654.7	ENST00000540698.2,ENST00000581693.1,ENST00000225792.5,ENST00000450599.2,ENST00000578804.1,ENST00000578758.1
exon_skip_292466	17	62498279:62498341:62498556:62498667:62499043:62499214	62498556:62498667	ENSG00000108654.7	ENST00000540698.2,ENST00000581693.1,ENST00000581230.1,ENST00000225792.5,ENST00000450599.2,ENST00000578804.1,ENST00000578491.1
exon_skip_292468	17	62498556:62498667:62499043:62499216:62499305:62499364	62499043:62499216	ENSG00000108654.7	ENST00000540698.2,ENST00000581693.1,ENST00000581230.1,ENST00000225792.5,ENST00000450599.2,ENST00000578804.1,ENST00000579461.1,ENST00000579996.1
exon_skip_292470	17	62499685:62499689:62499920:62499986:62500100:62500139	62499920:62499986	ENSG00000108654.7	ENST00000540698.2,ENST00000581693.1,ENST00000581230.1,ENST00000225792.5,ENST00000578804.1,ENST00000583894.1,ENST00000577922.1,ENST00000581697.1
exon_skip_292475	17	62500100:62500234:62500339:62500436:62500794:62500960	62500339:62500436	ENSG00000108654.7	ENST00000581230.1,ENST00000225792.5,ENST00000578804.1,ENST00000577922.1,ENST00000581697.1,ENST00000581806.1,ENST00000578190.1,ENST00000583239.1,ENST00000579091.1,ENST00000585060.1,ENST00000584279.1,ENST00000583212.1
exon_skip_292482	17	62500390:62500436:62500794:62500960:62502193:62502377	62500794:62500960	ENSG00000108654.7	ENST00000581230.1,ENST00000225792.5,ENST00000450599.2,ENST00000578400.1,ENST00000577922.1,ENST00000584279.1
exon_skip_292483	17	62500390:62500436:62500794:62500998:62502193:62502407	62500794:62500998	ENSG00000108654.7	ENST00000585060.1
exon_skip_292486	17	62500794:62500960:62502193:62502377:62502631:62502744	62502193:62502377	ENSG00000108654.7	ENST00000577922.1
exon_skip_292489	17	62500794:62500960:62502193:62502380:62502631:62502744	62502193:62502380	ENSG00000108654.7	ENST00000584279.1
exon_skip_292490	17	62500872:62500960:62502193:62502380:62502872:62503021	62502193:62502380	ENSG00000108654.7	ENST00000585111.1

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 DDX5

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
ENST00000225792	62499043	62499216	Frame-shift
ENST00000225792	62500339	62500436	Frame-shift
ENST00000225792	62500794	62500960	Frame-shift
ENST00000225792	62496666	62496891	In-frame
ENST00000225792	62498127	62498187	In-frame
ENST00000225792	62498556	62498667	In-frame
ENST00000225792	62499920	62499986	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
ENST00000225792	62499043	62499216	Frame-shift
ENST00000225792	62500339	62500436	Frame-shift
ENST00000225792	62500794	62500960	Frame-shift
ENST00000225792	62496666	62496891	In-frame
ENST00000225792	62498127	62498187	In-frame
ENST00000225792	62498556	62498667	In-frame
ENST00000225792	62499920	62499986	In-frame

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Infer the effects of exon skipping event on protein functional features for DDX5

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
ENST00000225792	2571	614	62499920	62499986	844	909	147	169
ENST00000225792	2571	614	62498556	62498667	1386	1496	328	364
ENST00000225792	2571	614	62498127	62498187	1559	1618	385	405
ENST00000225792	2571	614	62496666	62496891	1619	1843	405	480

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
ENST00000225792	2571	614	62499920	62499986	844	909	147	169
ENST00000225792	2571	614	62498556	62498667	1386	1496	328	364
ENST00000225792	2571	614	62498127	62498187	1559	1618	385	405
ENST00000225792	2571	614	62496666	62496891	1619	1843	405	480

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
P17844	147	169	85	163	Alternative sequence	ID=VSP_056154;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P17844	147	169	169	173	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3FE2
P17844	147	169	1	614	Chain	ID=PRO_0000054991;Note=Probable ATP-dependent RNA helicase DDX5
P17844	147	169	125	300	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P17844	147	169	144	157	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3FE2
P17844	328	364	1	614	Chain	ID=PRO_0000054991;Note=Probable ATP-dependent RNA helicase DDX5
P17844	328	364	340	340	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P17844	328	364	343	343	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P17844	328	364	328	475	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P17844	385	405	1	614	Chain	ID=PRO_0000054991;Note=Probable ATP-dependent RNA helicase DDX5
P17844	385	405	388	388	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P17844	385	405	391	391	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P17844	385	405	328	475	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P17844	385	405	403	403	Mutagenesis	Note=Binds to the tau stem-loop-containing RNA. Inhibits tau exon 10 inclusion and RNA cleavage. Does not inhibit interaction with RBM4. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21343338;Dbxref=PMID:21343338
P17844	405	480	1	614	Chain	ID=PRO_0000054991;Note=Probable ATP-dependent RNA helicase DDX5
P17844	405	480	411	411	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P17844	405	480	437	437	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P17844	405	480	451	451	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P17844	405	480	470	470	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P17844	405	480	328	475	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P17844	405	480	480	480	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163
P17844	405	480	480	480	Natural variant	ID=VAR_029241;Note=S->A;Dbxref=dbSNP:rs1140409
P17844	405	480	477	614	Region	Note=Transactivation domain

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
P17844	147	169	85	163	Alternative sequence	ID=VSP_056154;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
P17844	147	169	169	173	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3FE2
P17844	147	169	1	614	Chain	ID=PRO_0000054991;Note=Probable ATP-dependent RNA helicase DDX5
P17844	147	169	125	300	Domain	Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00541
P17844	147	169	144	157	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3FE2
P17844	328	364	1	614	Chain	ID=PRO_0000054991;Note=Probable ATP-dependent RNA helicase DDX5
P17844	328	364	340	340	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P17844	328	364	343	343	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P17844	328	364	328	475	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P17844	385	405	1	614	Chain	ID=PRO_0000054991;Note=Probable ATP-dependent RNA helicase DDX5
P17844	385	405	388	388	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P17844	385	405	391	391	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P17844	385	405	328	475	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P17844	385	405	403	403	Mutagenesis	Note=Binds to the tau stem-loop-containing RNA. Inhibits tau exon 10 inclusion and RNA cleavage. Does not inhibit interaction with RBM4. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21343338;Dbxref=PMID:21343338
P17844	405	480	1	614	Chain	ID=PRO_0000054991;Note=Probable ATP-dependent RNA helicase DDX5
P17844	405	480	411	411	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P17844	405	480	437	437	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P17844	405	480	451	451	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P17844	405	480	470	470	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P17844	405	480	328	475	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
P17844	405	480	480	480	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163
P17844	405	480	480	480	Natural variant	ID=VAR_029241;Note=S->A;Dbxref=dbSNP:rs1140409
P17844	405	480	477	614	Region	Note=Transactivation domain

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SNVs in the skipped exons for DDX5

- 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.

DDX5_SKCM_exon_skip_292447_psi_boxplot.png
boxplot

DDX5_SKCM_exon_skip_292449_psi_boxplot.png
boxplot

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
UCEC	TCGA-BS-A0V8-01	exon_skip_292447	62496667	62496891	62496727	62496742	Frame_Shift_Del	GAAGCACAGAGATAAG	-	p.L456fs
UCEC	TCGA-BS-A0V8-01	exon_skip_292449	62496667	62498187	62496727	62496742	Frame_Shift_Del	GAAGCACAGAGATAAG	-	p.L456fs
LIHC	TCGA-DD-A1EG-01	exon_skip_292466	62498557	62498667	62498570	62498570	Frame_Shift_Del	T	-	p.M361fs
LIHC	TCGA-DD-A1EG-01	exon_skip_292468	62499044	62499216	62499109	62499109	Frame_Shift_Del	T	-	p.E306fs
LUAD	TCGA-50-5941-01	exon_skip_292470	62499921	62499986	62499955	62499958	Frame_Shift_Del	TGAT	-	p.N157fs
LUAD	TCGA-50-5941-01	exon_skip_292470	62499921	62499986	62499955	62499958	Frame_Shift_Del	TGAT	-	p.NH157fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_292470	62499921	62499986	62499972	62499972	Frame_Shift_Del	G	-	p.A152fs
LIHC	TCGA-DD-A3A0-01	exon_skip_292482	62500795	62500960	62500874	62500874	Frame_Shift_Del	T	-	p.K45fs
LIHC	TCGA-DD-A3A0-01	exon_skip_292483	62500795	62500998	62500874	62500874	Frame_Shift_Del	T	-	p.K45fs
SKCM	TCGA-EE-A3JH-06	exon_skip_292447	62496667	62496891	62496834	62496835	Frame_Shift_Ins	-	A	p.Y425fs
SKCM	TCGA-EE-A3JH-06	exon_skip_292449	62496667	62498187	62496834	62496835	Frame_Shift_Ins	-	A	p.Y425fs
ESCA	TCGA-JY-A6FA-01	exon_skip_292468	62499044	62499216	62499111	62499111	Nonsense_Mutation	C	A	p.E306*
ESCA	TCGA-JY-A6FA-01	exon_skip_292468	62499044	62499216	62499111	62499111	Nonsense_Mutation	C	A	p.E306X
BLCA	TCGA-DK-A3IN-01	exon_skip_292470	62499921	62499986	62499953	62499953	Nonsense_Mutation	G	A	p.Q159*
STAD	TCGA-BR-6565-01	exon_skip_292475	62500340	62500436	62500356	62500356	Nonsense_Mutation	A	C	p.Y97*
STAD	TCGA-BR-6565-01	exon_skip_292475	62500340	62500436	62500356	62500356	Nonsense_Mutation	A	C	p.Y97X
UCEC	TCGA-D1-A163-01	exon_skip_292475	62500340	62500436	62500437	62500437	Splice_Site	C	T	p.Q71_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-EE-A3JH-06
	Cancer type: SKCM
	ESID: exon_skip_292447
	Skipped exon start: 62496667
	Skipped exon end: 62496891
	Mutation start: 62496834
	Mutation end: 62496835
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: A
	AAchange: p.Y425fs
	Sample: TCGA-EE-A3JH-06
	Cancer type: SKCM
	ESID: exon_skip_292449
	Skipped exon start: 62496667
	Skipped exon end: 62498187
	Mutation start: 62496834
	Mutation end: 62496835
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: A
	AAchange: p.Y425fs
exon_skip_292447_SKCM_TCGA-EE-A3JH-06.png
exon_skip_292449_SKCM_TCGA-EE-A3JH-06.png
	Sample: TCGA-BS-A0V8-01
	Cancer type: UCEC
	ESID: exon_skip_292447
	Skipped exon start: 62496667
	Skipped exon end: 62496891
	Mutation start: 62496727
	Mutation end: 62496742
	Mutation type: Frame_Shift_Del
	Reference seq: GAAGCACAGAGATAAG
	Mutation seq: -
	AAchange: p.L456fs
	Sample: TCGA-BS-A0V8-01
	Cancer type: UCEC
	ESID: exon_skip_292449
	Skipped exon start: 62496667
	Skipped exon end: 62498187
	Mutation start: 62496727
	Mutation end: 62496742
	Mutation type: Frame_Shift_Del
	Reference seq: GAAGCACAGAGATAAG
	Mutation seq: -
	AAchange: p.L456fs
exon_skip_292449_UCEC_TCGA-BS-A0V8-01.png
	Sample: TCGA-EE-A3JH-06
	Cancer type: SKCM
	ESID: exon_skip_292447
	Skipped exon start: 62496667
	Skipped exon end: 62496891
	Mutation start: 62496834
	Mutation end: 62496835
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: A
	AAchange: p.Y425fs
	Sample: TCGA-EE-A3JH-06
	Cancer type: SKCM
	ESID: exon_skip_292449
	Skipped exon start: 62496667
	Skipped exon end: 62498187
	Mutation start: 62496834
	Mutation end: 62496835
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: A
	AAchange: p.Y425fs
exon_skip_292447_SKCM_TCGA-EE-A3JH-06.png
exon_skip_292449_SKCM_TCGA-EE-A3JH-06.png
	Sample: TCGA-BS-A0V8-01
	Cancer type: UCEC
	ESID: exon_skip_292447
	Skipped exon start: 62496667
	Skipped exon end: 62496891
	Mutation start: 62496727
	Mutation end: 62496742
	Mutation type: Frame_Shift_Del
	Reference seq: GAAGCACAGAGATAAG
	Mutation seq: -
	AAchange: p.L456fs
	Sample: TCGA-BS-A0V8-01
	Cancer type: UCEC
	ESID: exon_skip_292449
	Skipped exon start: 62496667
	Skipped exon end: 62498187
	Mutation start: 62496727
	Mutation end: 62496742
	Mutation type: Frame_Shift_Del
	Reference seq: GAAGCACAGAGATAAG
	Mutation seq: -
	AAchange: p.L456fs
exon_skip_292449_UCEC_TCGA-BS-A0V8-01.png

- Non-synonymous mutations located in the skipped exons in CCLE.

Sample	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
NCIH740_LUNG	62500795	62500960	62500890	62500890	Frame_Shift_Del	C	-	p.E39fs
NCIH740_LUNG	62500795	62500998	62500890	62500890	Frame_Shift_Del	C	-	p.E39fs
UW228_CENTRAL_NERVOUS_SYSTEM	62496667	62496891	62496726	62496726	Missense_Mutation	C	T	p.R461H
UW228_CENTRAL_NERVOUS_SYSTEM	62496667	62498187	62496726	62496726	Missense_Mutation	C	T	p.R461H
SNU81_LARGE_INTESTINE	62496667	62496891	62496727	62496727	Missense_Mutation	G	A	p.R461C
SNU81_LARGE_INTESTINE	62496667	62498187	62496727	62496727	Missense_Mutation	G	A	p.R461C
SISO_CERVIX	62496667	62496891	62496748	62496748	Missense_Mutation	T	C	p.S454G
SISO_CERVIX	62496667	62498187	62496748	62496748	Missense_Mutation	T	C	p.S454G
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62496667	62496891	62496748	62496748	Missense_Mutation	T	C	p.S454G
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62496667	62498187	62496748	62496748	Missense_Mutation	T	C	p.S454G
BICR18_UPPER_AERODIGESTIVE_TRACT	62496667	62496891	62496750	62496750	Missense_Mutation	A	G	p.V453A
BICR18_UPPER_AERODIGESTIVE_TRACT	62496667	62498187	62496750	62496750	Missense_Mutation	A	G	p.V453A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62496667	62496891	62496750	62496750	Missense_Mutation	A	G	p.V453A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62496667	62498187	62496750	62496750	Missense_Mutation	A	G	p.V453A
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62496667	62496891	62496750	62496750	Missense_Mutation	A	G	p.V453A
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62496667	62498187	62496750	62496750	Missense_Mutation	A	G	p.V453A
HCC1569_BREAST	62496667	62496891	62496832	62496832	Missense_Mutation	T	C	p.I426V
HCC1569_BREAST	62496667	62498187	62496832	62496832	Missense_Mutation	T	C	p.I426V
SW756_CERVIX	62498557	62498667	62498568	62498568	Missense_Mutation	C	G	p.M361I
HT115_LARGE_INTESTINE	62498557	62498667	62498623	62498623	Missense_Mutation	T	G	p.K343T
MONOMAC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62499044	62499216	62499060	62499060	Missense_Mutation	C	T	p.V323I
MONOMAC6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62499044	62499216	62499060	62499060	Missense_Mutation	C	T	p.V323I
KPNSI9S_AUTONOMIC_GANGLIA	62499044	62499216	62499132	62499132	Missense_Mutation	G	A	p.H299Y
HUO9_BONE	62499044	62499216	62499162	62499162	Missense_Mutation	G	A	p.L289F
HT115_LARGE_INTESTINE	62500340	62500436	62500345	62500345	Missense_Mutation	A	G	p.F101S
MFE319_ENDOMETRIUM	62500340	62500436	62500369	62500369	Missense_Mutation	A	G	p.V93A
QIMRWIL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62500340	62500436	62500381	62500381	Missense_Mutation	C	T	p.C89Y
BICR18_UPPER_AERODIGESTIVE_TRACT	62500340	62500436	62500425	62500425	Missense_Mutation	T	A	p.E74D
GP5D_LARGE_INTESTINE	62500795	62500960	62500856	62500856	Missense_Mutation	T	A	p.E50V
GP5D_LARGE_INTESTINE	62500795	62500998	62500856	62500856	Missense_Mutation	T	A	p.E50V
SW1990_PANCREAS	62500795	62500960	62500929	62500929	Missense_Mutation	C	G	p.A26P
SW1990_PANCREAS	62500795	62500998	62500929	62500929	Missense_Mutation	C	G	p.A26P
SNU81_LARGE_INTESTINE	62499044	62499216	62499174	62499174	Nonsense_Mutation	C	A	p.E285*
SUDHL10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62502194	62502377	62502194	62502194	Splice_Site	C	A	p.G15V
SUDHL10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	62502194	62502380	62502194	62502194	Splice_Site	C	A	p.G15V

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DDX5

sQTL information located at the skipped exons.

Exon skip ID

Chromosome

Three exons

Skippped exon

ENST

Cancer type

SNP id

Location

DNA change (ref/var)

P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DDX5

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DDX5

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RelatedDrugs for DDX5

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 DDX5

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
DDX5	C0014175	Endometriosis	1	CTD_human

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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