ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for STAT6

Gene summary

Gene information	Gene symbol	STAT6
	Gene ID	6778
	Gene name	signal transducer and activator of transcription 6
	Synonyms	D12S1644\|IL-4-STAT\|STAT6B\|STAT6C
	Cytomap	12q13.3
	Type of gene	protein-coding
	Description	signal transducer and activator of transcription 6STAT, interleukin4-inducedsignal transducer and activator of transcription 6, interleukin-4 inducedtranscription factor IL-4 STAT
	Modification date	20180519
	UniProtAcc	P42226
	Context	PubMed: STAT6 [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
STAT6	GO:0045944	positive regulation of transcription by RNA polymerase II	8810328

Top

Exon skipping events across known transcript of Ensembl for STAT6 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 STAT6

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

Top

Exon skipping events with PSIs in TCGA for STAT6

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_93962	12	57490632:57490761:57490850:57490916:57492287:57492373	57490850:57490916	ENSG00000166888.6	ENST00000554764.1,ENST00000543873.2,ENST00000300134.3,ENST00000555222.1,ENST00000454075.3,ENST00000538913.2,ENST00000537215.2,ENST00000556155.1
exon_skip_93963	12	57492797:57492861:57493076:57493223:57493549:57493577	57493076:57493223	ENSG00000166888.6	ENST00000554764.1,ENST00000543873.2,ENST00000300134.3,ENST00000454075.3,ENST00000538913.2,ENST00000555318.1,ENST00000537215.2,ENST00000556155.1
exon_skip_93969	12	57493201:57493223:57493549:57493686:57493778:57493873	57493549:57493686	ENSG00000166888.6	ENST00000554764.1,ENST00000543873.2,ENST00000300134.3,ENST00000555222.1,ENST00000454075.3,ENST00000538913.2,ENST00000555375.1,ENST00000537215.2,ENST00000556155.1
exon_skip_93972	12	57493778:57493873:57494628:57494682:57496072:57496210	57494628:57494682	ENSG00000166888.6	ENST00000553533.1
exon_skip_93976	12	57496611:57496704:57498246:57498369:57498508:57498596	57498246:57498369	ENSG00000166888.6	ENST00000554764.1,ENST00000543873.2,ENST00000300134.3,ENST00000553533.1,ENST00000454075.3,ENST00000538913.2,ENST00000537215.2,ENST00000556155.1
exon_skip_93979	12	57501043:57501097:57501387:57501526:57501945:57502066	57501387:57501526	ENSG00000166888.6	ENST00000543873.2,ENST00000300134.3,ENST00000554663.1,ENST00000554825.1,ENST00000454075.3,ENST00000553397.1,ENST00000553499.1,ENST00000555849.1,ENST00000555641.1,ENST00000556155.1
exon_skip_93981	12	57501043:57501097:57501387:57501526:57504911:57504975	57501387:57501526	ENSG00000166888.6	ENST00000537215.2
exon_skip_93982	12	57501043:57501097:57501441:57501526:57501945:57502066	57501441:57501526	ENSG00000166888.6	ENST00000556259.1
exon_skip_93986	12	57501043:57501097:57501945:57502082:57504911:57504975	57501945:57502082	ENSG00000166888.6	ENST00000554764.1
exon_skip_93991	12	57501448:57501526:57501945:57502082:57504892:57505157	57501945:57502082	ENSG00000166888.6	ENST00000454075.3
exon_skip_93992	12	57501448:57501526:57501945:57502082:57504911:57504975	57501945:57502082	ENSG00000166888.6	ENST00000556259.1
exon_skip_94004	12	57501945:57502082:57503723:57503893:57504911:57504975	57503723:57503893	ENSG00000166888.6	ENST00000553275.1
exon_skip_94007	12	57501945:57502082:57503825:57503893:57504911:57504975	57503825:57503893	ENSG00000166888.6	ENST00000554825.1
exon_skip_94010	12	57501945:57502082:57503859:57503893:57504911:57504975	57503859:57503893	ENSG00000166888.6	ENST00000553397.1

PSI values of skipped exons in TCGA.

Top

Exon skipping events with PSIs in GTEx for STAT6

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_93962	12	57490632:57490761:57490850:57490916:57492287:57492373	57490850:57490916	ENSG00000166888.6	ENST00000300134.3,ENST00000555222.1,ENST00000538913.2,ENST00000543873.2,ENST00000556155.1,ENST00000537215.2,ENST00000454075.3,ENST00000554764.1
exon_skip_93963	12	57492797:57492861:57493076:57493223:57493549:57493577	57493076:57493223	ENSG00000166888.6	ENST00000300134.3,ENST00000538913.2,ENST00000543873.2,ENST00000556155.1,ENST00000537215.2,ENST00000454075.3,ENST00000554764.1,ENST00000555318.1
exon_skip_93969	12	57493201:57493223:57493549:57493686:57493778:57493873	57493549:57493686	ENSG00000166888.6	ENST00000300134.3,ENST00000555222.1,ENST00000538913.2,ENST00000543873.2,ENST00000556155.1,ENST00000537215.2,ENST00000454075.3,ENST00000554764.1,ENST00000555375.1
exon_skip_93972	12	57493778:57493873:57494628:57494682:57496072:57496210	57494628:57494682	ENSG00000166888.6	ENST00000553533.1
exon_skip_93976	12	57496611:57496704:57498246:57498369:57498508:57498596	57498246:57498369	ENSG00000166888.6	ENST00000300134.3,ENST00000538913.2,ENST00000543873.2,ENST00000556155.1,ENST00000537215.2,ENST00000454075.3,ENST00000554764.1,ENST00000553533.1
exon_skip_93979	12	57501043:57501097:57501387:57501526:57501945:57502066	57501387:57501526	ENSG00000166888.6	ENST00000300134.3,ENST00000543873.2,ENST00000556155.1,ENST00000454075.3,ENST00000555641.1,ENST00000555849.1,ENST00000553499.1,ENST00000553397.1,ENST00000554663.1,ENST00000554825.1
exon_skip_93981	12	57501043:57501097:57501387:57501526:57504911:57504975	57501387:57501526	ENSG00000166888.6	ENST00000537215.2
exon_skip_93982	12	57501043:57501097:57501441:57501526:57501945:57502066	57501441:57501526	ENSG00000166888.6	ENST00000556259.1
exon_skip_93986	12	57501043:57501097:57501945:57502082:57504911:57504975	57501945:57502082	ENSG00000166888.6	ENST00000554764.1
exon_skip_93991	12	57501448:57501526:57501945:57502082:57504892:57505157	57501945:57502082	ENSG00000166888.6	ENST00000454075.3
exon_skip_93992	12	57501448:57501526:57501945:57502082:57504911:57504975	57501945:57502082	ENSG00000166888.6	ENST00000556259.1
exon_skip_94004	12	57501945:57502082:57503723:57503893:57504911:57504975	57503723:57503893	ENSG00000166888.6	ENST00000553275.1
exon_skip_94007	12	57501945:57502082:57503825:57503893:57504911:57504975	57503825:57503893	ENSG00000166888.6	ENST00000554825.1
exon_skip_94010	12	57501945:57502082:57503859:57503893:57504911:57504975	57503859:57503893	ENSG00000166888.6	ENST00000553397.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for STAT6

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
ENST00000454075	57501945	57502082	3UTR-3CDS
ENST00000300134	57493549	57493686	Frame-shift
ENST00000454075	57493549	57493686	Frame-shift
ENST00000543873	57493549	57493686	Frame-shift
ENST00000556155	57493549	57493686	Frame-shift
ENST00000300134	57501387	57501526	Frame-shift
ENST00000454075	57501387	57501526	Frame-shift
ENST00000543873	57501387	57501526	Frame-shift
ENST00000556155	57501387	57501526	Frame-shift
ENST00000300134	57490850	57490916	In-frame
ENST00000454075	57490850	57490916	In-frame
ENST00000543873	57490850	57490916	In-frame
ENST00000556155	57490850	57490916	In-frame
ENST00000300134	57493076	57493223	In-frame
ENST00000454075	57493076	57493223	In-frame
ENST00000543873	57493076	57493223	In-frame
ENST00000556155	57493076	57493223	In-frame
ENST00000300134	57498246	57498369	In-frame
ENST00000454075	57498246	57498369	In-frame
ENST00000543873	57498246	57498369	In-frame
ENST00000556155	57498246	57498369	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
ENST00000454075	57501945	57502082	3UTR-3CDS
ENST00000300134	57493549	57493686	Frame-shift
ENST00000454075	57493549	57493686	Frame-shift
ENST00000543873	57493549	57493686	Frame-shift
ENST00000556155	57493549	57493686	Frame-shift
ENST00000300134	57501387	57501526	Frame-shift
ENST00000454075	57501387	57501526	Frame-shift
ENST00000543873	57501387	57501526	Frame-shift
ENST00000556155	57501387	57501526	Frame-shift
ENST00000300134	57490850	57490916	In-frame
ENST00000454075	57490850	57490916	In-frame
ENST00000543873	57490850	57490916	In-frame
ENST00000556155	57490850	57490916	In-frame
ENST00000300134	57493076	57493223	In-frame
ENST00000454075	57493076	57493223	In-frame
ENST00000543873	57493076	57493223	In-frame
ENST00000556155	57493076	57493223	In-frame
ENST00000300134	57498246	57498369	In-frame
ENST00000454075	57498246	57498369	In-frame
ENST00000543873	57498246	57498369	In-frame
ENST00000556155	57498246	57498369	In-frame

Top

Infer the effects of exon skipping event on protein functional features for STAT6

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
ENST00000300134	4051	847	57498246	57498369	1416	1538	363	404
ENST00000454075	3054	847	57498246	57498369	1376	1498	363	404
ENST00000543873	3136	847	57498246	57498369	1341	1463	363	404
ENST00000556155	2941	847	57498246	57498369	1239	1361	363	404
ENST00000300134	4051	847	57493076	57493223	2071	2217	581	630
ENST00000454075	3054	847	57493076	57493223	2031	2177	581	630
ENST00000543873	3136	847	57493076	57493223	1996	2142	581	630
ENST00000556155	2941	847	57493076	57493223	1894	2040	581	630
ENST00000300134	4051	847	57490850	57490916	2486	2551	720	741
ENST00000454075	3054	847	57490850	57490916	2446	2511	720	741
ENST00000543873	3136	847	57490850	57490916	2411	2476	720	741
ENST00000556155	2941	847	57490850	57490916	2309	2374	720	741

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
ENST00000300134	4051	847	57498246	57498369	1416	1538	363	404
ENST00000454075	3054	847	57498246	57498369	1376	1498	363	404
ENST00000543873	3136	847	57498246	57498369	1341	1463	363	404
ENST00000556155	2941	847	57498246	57498369	1239	1361	363	404
ENST00000300134	4051	847	57493076	57493223	2071	2217	581	630
ENST00000454075	3054	847	57493076	57493223	2031	2177	581	630
ENST00000543873	3136	847	57493076	57493223	1996	2142	581	630
ENST00000556155	2941	847	57493076	57493223	1894	2040	581	630
ENST00000300134	4051	847	57490850	57490916	2486	2551	720	741
ENST00000454075	3054	847	57490850	57490916	2446	2511	720	741
ENST00000543873	3136	847	57490850	57490916	2411	2476	720	741
ENST00000556155	2941	847	57490850	57490916	2309	2374	720	741

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
P42226	363	404	355	365	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	355	365	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	355	365	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	355	365	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	384	392	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	384	392	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	384	392	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	384	392	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	401	406	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	401	406	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	401	406	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	401	406	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	363	404	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	363	404	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	363	404	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	363	404	379	381	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5W
P42226	363	404	379	381	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5W
P42226	363	404	379	381	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5W
P42226	363	404	379	381	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5W
P42226	581	630	584	589	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	584	589	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	584	589	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	584	589	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	581	630	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	581	630	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	581	630	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	581	630	517	632	Domain	Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00191
P42226	581	630	517	632	Domain	Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00191
P42226	581	630	517	632	Domain	Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00191
P42226	581	630	517	632	Domain	Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00191
P42226	581	630	594	599	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	594	599	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	594	599	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	594	599	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	602	607	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	602	607	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	602	607	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	602	607	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	621	624	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	621	624	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	621	624	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	621	624	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	616	618	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	616	618	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	616	618	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	616	618	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	625	628	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5W
P42226	581	630	625	628	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5W
P42226	581	630	625	628	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5W
P42226	581	630	625	628	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5W
P42226	720	741	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	720	741	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	720	741	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	720	741	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	720	741	733	733	Sequence conflict	Note=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
P42226	720	741	733	733	Sequence conflict	Note=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
P42226	720	741	733	733	Sequence conflict	Note=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
P42226	720	741	733	733	Sequence conflict	Note=S->N;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
P42226	363	404	355	365	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	355	365	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	355	365	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	355	365	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	384	392	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	384	392	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	384	392	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	384	392	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	401	406	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	401	406	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	401	406	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	401	406	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	363	404	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	363	404	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	363	404	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	363	404	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	363	404	379	381	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5W
P42226	363	404	379	381	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5W
P42226	363	404	379	381	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5W
P42226	363	404	379	381	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5W
P42226	581	630	584	589	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	584	589	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	584	589	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	584	589	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	581	630	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	581	630	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	581	630	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	581	630	517	632	Domain	Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00191
P42226	581	630	517	632	Domain	Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00191
P42226	581	630	517	632	Domain	Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00191
P42226	581	630	517	632	Domain	Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00191
P42226	581	630	594	599	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	594	599	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	594	599	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	594	599	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	602	607	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	602	607	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	602	607	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	602	607	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	621	624	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	621	624	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	621	624	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	621	624	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	616	618	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	616	618	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	616	618	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	616	618	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5U
P42226	581	630	625	628	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5W
P42226	581	630	625	628	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5W
P42226	581	630	625	628	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5W
P42226	581	630	625	628	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Y5W
P42226	720	741	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	720	741	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	720	741	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	720	741	2	847	Chain	ID=PRO_0000182433;Note=Signal transducer and activator of transcription 6
P42226	720	741	733	733	Sequence conflict	Note=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
P42226	720	741	733	733	Sequence conflict	Note=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
P42226	720	741	733	733	Sequence conflict	Note=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305
P42226	720	741	733	733	Sequence conflict	Note=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305

Top

SNVs in the skipped exons for STAT6

- 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.

STAT6_CESC_exon_skip_93963_psi_boxplot.png
boxplot

STAT6_SKCM_exon_skip_93963_psi_boxplot.png
boxplot

STAT6_STAD_exon_skip_93963_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
ESCA	TCGA-LN-A7HW-01	exon_skip_93962	57490851	57490916	57490895	57490895	Frame_Shift_Del	G	-	p.S728fs
LIHC	TCGA-DD-A39Y-01	exon_skip_93962	57490851	57490916	57490895	57490895	Frame_Shift_Del	G	-	p.P727fs
LIHC	TCGA-DD-A3A0-01	exon_skip_93963	57493077	57493223	57493127	57493127	Frame_Shift_Del	T	-	p.N614fs
LIHC	TCGA-DD-A3A0-01	exon_skip_93976	57498247	57498369	57498255	57498255	Frame_Shift_Del	G	-	p.Q402fs
SKCM	TCGA-D3-A8GQ-06	exon_skip_93963	57493077	57493223	57493137	57493137	Nonsense_Mutation	G	A	p.Q611*
CESC	TCGA-IR-A3LH-01	exon_skip_93963	57493077	57493223	57493155	57493155	Nonsense_Mutation	G	A	p.R605*
STAD	TCGA-D7-A6EY-01	exon_skip_93963	57493077	57493223	57493155	57493155	Nonsense_Mutation	G	A	p.R605*
STAD	TCGA-D7-A6EY-01	exon_skip_93963	57493077	57493223	57493155	57493155	Nonsense_Mutation	G	A	p.R605X
SKCM	TCGA-EE-A2MF-06	exon_skip_93991 exon_skip_93992 exon_skip_93986	57501946	57502082	57501992	57501992	Nonsense_Mutation	G	A	p.Q24*
SKCM	TCGA-EE-A2MF-06	exon_skip_93991 exon_skip_93992 exon_skip_93986	57501946	57502082	57501992	57501992	Nonsense_Mutation	G	A	p.Q24X

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-IR-A3LH-01
	Cancer type: CESC
	ESID: exon_skip_93963
	Skipped exon start: 57493077
	Skipped exon end: 57493223
	Mutation start: 57493155
	Mutation end: 57493155
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.R605*
exon_skip_334460_CESC_TCGA-IR-A3LH-01.png
exon_skip_449944_CESC_TCGA-IR-A3LH-01.png
exon_skip_93963_CESC_TCGA-IR-A3LH-01.png
	Sample: TCGA-D7-A6EY-01
	Cancer type: STAD
	ESID: exon_skip_93963
	Skipped exon start: 57493077
	Skipped exon end: 57493223
	Mutation start: 57493155
	Mutation end: 57493155
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.R605X
	Sample: TCGA-D7-A6EY-01
	Cancer type: STAD
	ESID: exon_skip_93963
	Skipped exon start: 57493077
	Skipped exon end: 57493223
	Mutation start: 57493155
	Mutation end: 57493155
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.R605*
exon_skip_100237_STAD_TCGA-D7-A6EY-01.png
exon_skip_21523_STAD_TCGA-D7-A6EY-01.png
exon_skip_37321_STAD_TCGA-D7-A6EY-01.png
exon_skip_377023_STAD_TCGA-D7-A6EY-01.png
exon_skip_425876_STAD_TCGA-D7-A6EY-01.png
exon_skip_469411_STAD_TCGA-D7-A6EY-01.png
exon_skip_489149_STAD_TCGA-D7-A6EY-01.png
exon_skip_93963_STAD_TCGA-D7-A6EY-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
KM12_LARGE_INTESTINE	57493550	57493686	57493585	57493585	Frame_Shift_Del	C	-	p.G570fs
EW24_BONE	57498247	57498369	57498269	57498269	Frame_Shift_Del	C	-	p.G397fs
HEC265_ENDOMETRIUM	57501388	57501526	57501425	57501425	Frame_Shift_Del	T	-	p.E73fs
OVCAR8_OVARY	57490851	57490916	57490894	57490895	Frame_Shift_Ins	-	G	p.S728fs
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57493077	57493223	57493092	57493092	Missense_Mutation	G	A	p.R626W
ISTMES2_PLEURA	57493077	57493223	57493158	57493158	Missense_Mutation	C	T	p.D604N
NTERA2CLD1_TESTIS	57493077	57493223	57493158	57493158	Missense_Mutation	C	T	p.D604N
BICR18_UPPER_AERODIGESTIVE_TRACT	57493077	57493223	57493218	57493218	Missense_Mutation	G	A	p.P584S
NCIH1563_LUNG	57493550	57493686	57493568	57493568	Missense_Mutation	C	A	p.V576F
CCK81_LARGE_INTESTINE	57493550	57493686	57493642	57493642	Missense_Mutation	A	C	p.L551R
639V_URINARY_TRACT	57493550	57493686	57493658	57493658	Missense_Mutation	A	G	p.Y546H
COLO684_ENDOMETRIUM	57493550	57493686	57493658	57493658	Missense_Mutation	A	G	p.Y546H
COLO704_OVARY	57493550	57493686	57493658	57493658	Missense_Mutation	A	G	p.Y546H
LI7_LIVER	57498247	57498369	57498291	57498291	Missense_Mutation	C	A	p.A390S
KALS1_CENTRAL_NERVOUS_SYSTEM	57498247	57498369	57498291	57498291	Missense_Mutation	C	A	p.A390S
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57498247	57498369	57498305	57498305	Missense_Mutation	G	T	p.A385D
SNU175_LARGE_INTESTINE	57498247	57498369	57498314	57498314	Missense_Mutation	T	G	p.E382A
KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57501388	57501526	57501426	57501426	Missense_Mutation	C	T	p.E73K
P3HR1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57501388	57501526	57501440	57501440	Missense_Mutation	A	T	p.V68E
P3HR1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57501442	57501526	57501440	57501440	Missense_Mutation	A	T	p.V68E
JIYOYEP2003_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57501388	57501526	57501440	57501440	Missense_Mutation	A	T	p.V68E
JIYOYEP2003_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57501442	57501526	57501440	57501440	Missense_Mutation	A	T	p.V68E
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57501946	57502082	57501971	57501971	Missense_Mutation	C	T	p.G31S
EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	57501946	57502082	57501977	57501977	Missense_Mutation	G	A	p.L29F
COLO794_SKIN	57501388	57501526	57501389	57501389	Splice_Site	T	C	p.E85G

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STAT6

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 STAT6

Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STAT6

Top

RelatedDrugs for STAT6

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 STAT6

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
STAT6	C1266119	Solitary fibrous tumor	2	CTD_human
STAT6	C0011615	Dermatitis, Atopic	1	CTD_human
STAT6	C0013604	Edema	1	CTD_human
STAT6	C0018671	Head and Neck Neoplasms	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