ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for DDX58

Gene summary

Gene information	Gene symbol	DDX58
	Gene ID	23586
	Gene name	DExD/H-box helicase 58
	Synonyms	RIG-I\|RIGI\|RLR-1\|SGMRT2
	Cytomap	9p21.1
	Type of gene	protein-coding
	Description	probable ATP-dependent RNA helicase DDX58DEAD (Asp-Glu-Ala-Asp) box polypeptide 58DEAD box protein 58DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptideRNA helicase RIG-Iretinoic acid-inducible gene 1 proteinretinoic acid-inducible gene I protein
	Modification date	20180527
	UniProtAcc	O95786
	Context	PubMed: DDX58 [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
DDX58	GO:0009597	detection of virus	17079289
DDX58	GO:0010628	positive regulation of gene expression	24409285
DDX58	GO:0030334	regulation of cell migration	19122199
DDX58	GO:0032725	positive regulation of granulocyte macrophage colony-stimulating factor production	24409285
DDX58	GO:0032727	positive regulation of interferon-alpha production	19576794
DDX58	GO:0032728	positive regulation of interferon-beta production	17079289
DDX58	GO:0032755	positive regulation of interleukin-6 production	24409285
DDX58	GO:0032757	positive regulation of interleukin-8 production	24409285
DDX58	GO:0045944	positive regulation of transcription by RNA polymerase II	17079289
DDX58	GO:0051091	positive regulation of DNA binding transcription factor activity	17079289
DDX58	GO:0051607	defense response to virus	21478870

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Exon skipping events across known transcript of Ensembl for DDX58 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 DDX58

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 DDX58

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_503135	9	32457055:32457416:32459368:32459512:32466287:32466439	32459368:32459512	ENSG00000107201.5	ENST00000379882.1,ENST00000379868.1,ENST00000542096.1,ENST00000379883.2
exon_skip_503137	9	32459368:32459512:32466287:32466439:32467759:32467930	32466287:32466439	ENSG00000107201.5	ENST00000379882.1,ENST00000379868.1,ENST00000542096.1,ENST00000379883.2
exon_skip_503140	9	32466287:32466439:32467759:32467930:32472972:32473063	32467759:32467930	ENSG00000107201.5	ENST00000379882.1,ENST00000379868.1,ENST00000542096.1,ENST00000379883.2
exon_skip_503141	9	32467759:32467930:32472972:32473063:32476980:32477129	32472972:32473063	ENSG00000107201.5	ENST00000379882.1,ENST00000545044.1,ENST00000379868.1,ENST00000542096.1,ENST00000379883.2
exon_skip_503143	9	32472972:32473063:32476980:32477129:32480216:32480352	32476980:32477129	ENSG00000107201.5	ENST00000379882.1,ENST00000545044.1,ENST00000379868.1,ENST00000542096.1,ENST00000379883.2
exon_skip_503145	9	32480216:32480352:32481337:32481495:32485172:32485277	32481337:32481495	ENSG00000107201.5	ENST00000379882.1,ENST00000545044.1,ENST00000379868.1,ENST00000542096.1,ENST00000379883.2
exon_skip_503147	9	32481337:32481495:32485172:32485277:32487468:32487631	32485172:32485277	ENSG00000107201.5	ENST00000379882.1,ENST00000545044.1,ENST00000379868.1,ENST00000542096.1,ENST00000379883.2
exon_skip_503151	9	32491298:32491418:32492388:32492536:32493758:32493940	32492388:32492536	ENSG00000107201.5	ENST00000379882.1,ENST00000542096.1,ENST00000379883.2
exon_skip_503153	9	32493758:32493940:32498309:32498564:32500802:32500934	32498309:32498564	ENSG00000107201.5	ENST00000542096.1
exon_skip_503155	9	32493758:32493940:32500802:32500937:32526058:32526193	32500802:32500937	ENSG00000107201.5	ENST00000545044.1,ENST00000379868.1,ENST00000379883.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for DDX58

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_503135	9	32457055:32457416:32459368:32459512:32466287:32466439	32459368:32459512	ENSG00000107201.5	ENST00000379882.1,ENST00000379868.1,ENST00000379883.2,ENST00000542096.1
exon_skip_503137	9	32459368:32459512:32466287:32466439:32467759:32467930	32466287:32466439	ENSG00000107201.5	ENST00000379882.1,ENST00000379868.1,ENST00000379883.2,ENST00000542096.1
exon_skip_503140	9	32466287:32466439:32467759:32467930:32472972:32473063	32467759:32467930	ENSG00000107201.5	ENST00000379882.1,ENST00000379868.1,ENST00000379883.2,ENST00000542096.1
exon_skip_503141	9	32467759:32467930:32472972:32473063:32476980:32477129	32472972:32473063	ENSG00000107201.5	ENST00000379882.1,ENST00000379868.1,ENST00000379883.2,ENST00000542096.1,ENST00000545044.1
exon_skip_503143	9	32472972:32473063:32476980:32477129:32480216:32480352	32476980:32477129	ENSG00000107201.5	ENST00000379882.1,ENST00000379868.1,ENST00000379883.2,ENST00000542096.1,ENST00000545044.1
exon_skip_503145	9	32480216:32480352:32481337:32481495:32485172:32485277	32481337:32481495	ENSG00000107201.5	ENST00000379882.1,ENST00000379868.1,ENST00000379883.2,ENST00000542096.1,ENST00000545044.1
exon_skip_503147	9	32481337:32481495:32485172:32485277:32487468:32487631	32485172:32485277	ENSG00000107201.5	ENST00000379882.1,ENST00000379868.1,ENST00000379883.2,ENST00000542096.1,ENST00000545044.1
exon_skip_503151	9	32491298:32491418:32492388:32492536:32493758:32493940	32492388:32492536	ENSG00000107201.5	ENST00000379882.1,ENST00000379883.2,ENST00000542096.1
exon_skip_503153	9	32493758:32493940:32498309:32498564:32500802:32500934	32498309:32498564	ENSG00000107201.5	ENST00000542096.1
exon_skip_503155	9	32493758:32493940:32500802:32500937:32526058:32526193	32500802:32500937	ENSG00000107201.5	ENST00000379868.1,ENST00000379883.2,ENST00000545044.1

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 DDX58

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
ENST00000379883	32466287	32466439	Frame-shift
ENST00000379883	32472972	32473063	Frame-shift
ENST00000379883	32476980	32477129	Frame-shift
ENST00000379883	32481337	32481495	Frame-shift
ENST00000379883	32492388	32492536	Frame-shift
ENST00000379883	32459368	32459512	In-frame
ENST00000379883	32467759	32467930	In-frame
ENST00000379883	32485172	32485277	In-frame
ENST00000379883	32500802	32500937	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
ENST00000379883	32466287	32466439	Frame-shift
ENST00000379883	32472972	32473063	Frame-shift
ENST00000379883	32476980	32477129	Frame-shift
ENST00000379883	32481337	32481495	Frame-shift
ENST00000379883	32492388	32492536	Frame-shift
ENST00000379883	32459368	32459512	In-frame
ENST00000379883	32467759	32467930	In-frame
ENST00000379883	32485172	32485277	In-frame
ENST00000379883	32500802	32500937	In-frame

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Infer the effects of exon skipping event on protein functional features for DDX58

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
ENST00000379883	4370	925	32500802	32500937	265	399	35	80
ENST00000379883	4370	925	32485172	32485277	1534	1638	458	493
ENST00000379883	4370	925	32467759	32467930	2173	2343	671	728
ENST00000379883	4370	925	32459368	32459512	2496	2639	779	827

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
ENST00000379883	4370	925	32500802	32500937	265	399	35	80
ENST00000379883	4370	925	32485172	32485277	1534	1638	458	493
ENST00000379883	4370	925	32467759	32467930	2173	2343	671	728
ENST00000379883	4370	925	32459368	32459512	2496	2639	779	827

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
O95786	35	80	36	80	Alternative sequence	ID=VSP_016054;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O95786	35	80	1	925	Chain	ID=PRO_0000144093;Note=Probable ATP-dependent RNA helicase DDX58
O95786	35	80	1	87	Domain	Note=CARD 1
O95786	35	80	35	48	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4P4H
O95786	35	80	50	63	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4P4H
O95786	35	80	69	80	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4P4H
O95786	35	80	55	55	Mutagenesis	Note=No IRF3 signaling activity%3B no effect on dsRNA binding. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15708988;Dbxref=PMID:15708988
O95786	458	493	457	462	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YKG
O95786	458	493	1	925	Chain	ID=PRO_0000144093;Note=Probable ATP-dependent RNA helicase DDX58
O95786	458	493	470	489	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YKG
O95786	458	493	493	495	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YKG
O95786	458	493	218	925	Region	Note=Interaction with ZC3HAV1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21102435;Dbxref=PMID:21102435
O95786	671	728	686	690	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5F9F
O95786	671	728	694	700	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YKG
O95786	671	728	701	703	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ON9
O95786	671	728	710	716	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YKG
O95786	671	728	1	925	Chain	ID=PRO_0000144093;Note=Probable ATP-dependent RNA helicase DDX58
O95786	671	728	610	776	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
O95786	671	728	675	683	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5F9F
O95786	671	728	706	708	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ZD7
O95786	671	728	721	726	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5F9F
O95786	671	728	727	731	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5F9F
O95786	671	728	218	925	Region	Note=Interaction with ZC3HAV1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21102435;Dbxref=PMID:21102435
O95786	779	827	801	804	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2RMJ
O95786	779	827	806	810	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LRR
O95786	779	827	816	819	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LRR
O95786	779	827	823	826	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LRR
O95786	779	827	1	925	Chain	ID=PRO_0000144093;Note=Probable ATP-dependent RNA helicase DDX58
O95786	779	827	812	812	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q6Q899
O95786	779	827	794	925	Domain	Note=RLR CTR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01125
O95786	779	827	773	793	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YKG
O95786	779	827	820	822	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LRR
O95786	779	827	810	810	Metal binding	Note=Zinc;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01125
O95786	779	827	813	813	Metal binding	Note=Zinc;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01125
O95786	779	827	218	925	Region	Note=Interaction with ZC3HAV1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21102435;Dbxref=PMID:21102435
O95786	779	827	811	813	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LRR
O95786	779	827	827	829	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LRR

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
O95786	35	80	36	80	Alternative sequence	ID=VSP_016054;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:17974005;Dbxref=PMID:17974005
O95786	35	80	1	925	Chain	ID=PRO_0000144093;Note=Probable ATP-dependent RNA helicase DDX58
O95786	35	80	1	87	Domain	Note=CARD 1
O95786	35	80	35	48	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4P4H
O95786	35	80	50	63	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4P4H
O95786	35	80	69	80	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4P4H
O95786	35	80	55	55	Mutagenesis	Note=No IRF3 signaling activity%3B no effect on dsRNA binding. T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15708988;Dbxref=PMID:15708988
O95786	458	493	457	462	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YKG
O95786	458	493	1	925	Chain	ID=PRO_0000144093;Note=Probable ATP-dependent RNA helicase DDX58
O95786	458	493	470	489	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YKG
O95786	458	493	493	495	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YKG
O95786	458	493	218	925	Region	Note=Interaction with ZC3HAV1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21102435;Dbxref=PMID:21102435
O95786	671	728	686	690	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5F9F
O95786	671	728	694	700	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YKG
O95786	671	728	701	703	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ON9
O95786	671	728	710	716	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YKG
O95786	671	728	1	925	Chain	ID=PRO_0000144093;Note=Probable ATP-dependent RNA helicase DDX58
O95786	671	728	610	776	Domain	Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00542
O95786	671	728	675	683	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5F9F
O95786	671	728	706	708	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3ZD7
O95786	671	728	721	726	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5F9F
O95786	671	728	727	731	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5F9F
O95786	671	728	218	925	Region	Note=Interaction with ZC3HAV1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21102435;Dbxref=PMID:21102435
O95786	779	827	801	804	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2RMJ
O95786	779	827	806	810	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LRR
O95786	779	827	816	819	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LRR
O95786	779	827	823	826	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LRR
O95786	779	827	1	925	Chain	ID=PRO_0000144093;Note=Probable ATP-dependent RNA helicase DDX58
O95786	779	827	812	812	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q6Q899
O95786	779	827	794	925	Domain	Note=RLR CTR;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01125
O95786	779	827	773	793	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YKG
O95786	779	827	820	822	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LRR
O95786	779	827	810	810	Metal binding	Note=Zinc;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01125
O95786	779	827	813	813	Metal binding	Note=Zinc;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU01125
O95786	779	827	218	925	Region	Note=Interaction with ZC3HAV1;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21102435;Dbxref=PMID:21102435
O95786	779	827	811	813	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LRR
O95786	779	827	827	829	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LRR

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SNVs in the skipped exons for DDX58

- 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-G3-A3CJ-01	exon_skip_503135	32459369	32459512	32459462	32459462	Frame_Shift_Del	T	-	p.K751fs
STAD	TCGA-BR-8368-01	exon_skip_503135	32459369	32459512	32459462	32459462	Frame_Shift_Del	T	-	p.K796fs
STAD	TCGA-BR-8368-01	exon_skip_503135	32459369	32459512	32459462	32459462	Frame_Shift_Del	T	-	p.P797fs
KIRP	TCGA-2Z-A9J3-01	exon_skip_503137	32466288	32466439	32466289	32466289	Frame_Shift_Del	T	-	p.K779fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_503137	32466288	32466439	32466328	32466328	Frame_Shift_Del	A	-	p.L721fs
KIRP	TCGA-A4-8517-01	exon_skip_503140	32467760	32467930	32467853	32467868	Frame_Shift_Del	AGGTGGCAATCAGAAT	-	p.693_698del
KIRP	TCGA-A4-8517-01	exon_skip_503140	32467760	32467930	32467853	32467868	Frame_Shift_Del	AGGTGGCAATCAGAAT	-	p.I693fs
KIRP	TCGA-A4-8517-01	exon_skip_503140	32467760	32467930	32467853	32467868	Frame_Shift_Del	AGGTGGCAATCAGAAT	-	p.ILIATS648fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_503143	32476981	32477129	32477005	32477005	Frame_Shift_Del	A	-	p.F588fs
STAD	TCGA-CG-5726-01	exon_skip_503145	32481338	32481495	32481357	32481357	Frame_Shift_Del	A	-	p.L540fs
LIHC	TCGA-BC-A112-01	exon_skip_503143	32476981	32477129	32477125	32477126	Frame_Shift_Ins	-	T	p.T548fs
KIRP	TCGA-GL-A59R-01	exon_skip_503135	32459369	32459512	32459420	32459420	Nonsense_Mutation	G	T	p.C810*
KIRP	TCGA-GL-A59R-01	exon_skip_503135	32459369	32459512	32459420	32459420	Nonsense_Mutation	G	T	p.C810X
ESCA	TCGA-S8-A6BW-01	exon_skip_503135	32459369	32459512	32459470	32459470	Nonsense_Mutation	G	A	p.Q749*
ESCA	TCGA-S8-A6BW-01	exon_skip_503135	32459369	32459512	32459470	32459470	Nonsense_Mutation	G	A	p.Q794*
ESCA	TCGA-S8-A6BW-01	exon_skip_503135	32459369	32459512	32459470	32459470	Nonsense_Mutation	G	A	p.Q794X
READ	TCGA-AG-A002-01	exon_skip_503137	32466288	32466439	32466353	32466353	Nonsense_Mutation	C	A	p.E758X

- 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
MFE319_ENDOMETRIUM	32472973	32473063	32473026	32473026	Frame_Shift_Del	C	-	p.S654fs
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	32472973	32473063	32473053	32473053	Frame_Shift_Del	T	-	p.N645fs
SNU1040_LARGE_INTESTINE	32472973	32473063	32473053	32473053	Frame_Shift_Del	T	-	p.N645fs
SNUC2A_LARGE_INTESTINE	32459369	32459512	32459428	32459429	Frame_Shift_Ins	-	T	p.L808fs
SNUC2B_LARGE_INTESTINE	32459369	32459512	32459428	32459429	Frame_Shift_Ins	-	T	p.L808fs
HCC2998_LARGE_INTESTINE	32459369	32459512	32459383	32459383	Missense_Mutation	C	T	p.V823I
RERFLCAD2_LUNG	32459369	32459512	32459421	32459421	Missense_Mutation	C	T	p.C810Y
NCIH2286_LUNG	32466288	32466439	32466304	32466304	Missense_Mutation	G	T	p.A774E
LNZ308_CENTRAL_NERVOUS_SYSTEM	32466288	32466439	32466305	32466305	Missense_Mutation	C	G	p.A774P
HT115_LARGE_INTESTINE	32466288	32466439	32466325	32466325	Missense_Mutation	C	T	p.R767H
SNU685_ENDOMETRIUM	32466288	32466439	32466386	32466386	Missense_Mutation	C	T	p.V747I
EW7_BONE	32476981	32477129	32477060	32477060	Missense_Mutation	C	T	p.C615Y
LNCAPCLONEFGC_PROSTATE	32481338	32481495	32481357	32481357	Missense_Mutation	A	G	p.L540S
HEC1A_ENDOMETRIUM	32481338	32481495	32481372	32481372	Missense_Mutation	C	T	p.C535Y
COGN278_AUTONOMIC_GANGLIA	32485173	32485277	32485182	32485182	Missense_Mutation	T	G	p.K491Q
SKNEP1_BONE	32485173	32485277	32485213	32485213	Missense_Mutation	C	G	p.R480S
MEWO_SKIN	32481338	32481495	32481370	32481370	Nonsense_Mutation	T	A	p.K536*
PL4_PANCREAS	32472973	32473063	32473063	32473063	Splice_Site	C	G	p.A642P

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DDX58

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 DDX58

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DDX58

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RelatedDrugs for DDX58

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 DDX58

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
DDX58	C0019196	Hepatitis C	1	CTD_human
DDX58	C0021400	Influenza	1	CTD_human
DDX58	C0033860	Psoriasis	1	CTD_human
DDX58	C4225380	SINGLETON-MERTEN SYNDROME 2	1	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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