ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for TYK2

Gene summary

Gene information	Gene symbol	TYK2
	Gene ID	7297
	Gene name	tyrosine kinase 2
	Synonyms	IMD35\|JTK1
	Cytomap	19p13.2
	Type of gene	protein-coding
	Description	non-receptor tyrosine-protein kinase TYK2
	Modification date	20200329
	UniProtAcc	A0A024R7E4, E9PM19, E9PPF2, E9PQE9, E9PQL2, H0YCT7, H0YE24, H0YE41, K7EJR6, K7EM33, P29597,
	Context

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene

GO ID

GO term

PubMed ID

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Gene structures and expression levels for TYK2

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.

ENSG00000105397

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
CB	DOWN	ENST00000525976.5	TYK2-207:protein_coding:TYK2	2.162497e+02	-8.071809e-01	6.250181e-08	1.426681e-06
CB	UP	ENST00000525220.1	TYK2-204:protein_coding:TYK2	3.637834e+00	1.316387e+00	7.658473e-05	5.916022e-04
TC	DOWN	ENST00000527481.2	TYK2-208:nonsense_mediated_decay:TYK2	3.386371e+00	-1.326899e+00	6.169401e-03	3.917997e-02

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 TYK2

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_112769	chr19	10352958:10353098:10353528:10353646:10354042:10354103	10353528:10353646
exon_skip_122133	chr19	10378214:10378426:10379615:10379689:10380380:10380510	10379615:10379689
exon_skip_1272	chr19	10368329:10368418:10369757:10369877:10378214:10378283	10369757:10369877
exon_skip_139731	chr19	10378214:10378426:10379615:10379779:10380380:10380510	10379615:10379779
exon_skip_150037	chr19	10362580:10362657:10364614:10364771:10365517:10365808	10364614:10364771
exon_skip_154456	chr19	10352958:10353098:10353528:10353646:10354042:10354234	10353528:10353646
exon_skip_16481	chr19	10368164:10368202:10368295:10368418:10378214:10378426	10368295:10368418
exon_skip_190534	chr19	10364614:10364771:10364851:10365048:10365517:10365863	10364851:10365048
exon_skip_217390	chr19	10362580:10362657:10364614:10364771:10364851:10365048	10364614:10364771
exon_skip_244398	chr19	10358003:10358138:10359175:10359302:10361511:10361598	10359175:10359302
exon_skip_244450	chr19	10350947:10350968:10351052:10351162:10352434:10352492	10351052:10351162
exon_skip_26316	chr19	10356568:10356718:10357764:10357918:10358003:10358138	10357764:10357918
exon_skip_263623	chr19	10362580:10362657:10364614:10364771:10365517:10365863	10364614:10364771
exon_skip_265922	chr19	10368329:10368418:10369757:10369877:10378214:10378426	10369757:10369877
exon_skip_269484	chr19	10359175:10359302:10361511:10361598:10361770:10361836	10361511:10361598
exon_skip_269905	chr19	10351052:10351162:10352434:10352551:10352926:10353098	10352434:10352551
exon_skip_279998	chr19	10352434:10352551:10352926:10353098:10354042:10354234	10352926:10353098
exon_skip_284954	chr19	10357794:10357918:10358003:10358138:10359175:10359302	10358003:10358138
exon_skip_287092	chr19	10352434:10352551:10352926:10353098:10354042:10354103	10352926:10353098
exon_skip_28892	chr19	10362078:10362181:10362264:10362456:10362549:10362657	10362264:10362456
exon_skip_42480	chr19	10352968:10353098:10353528:10353646:10354042:10354103	10353528:10353646
exon_skip_61682	chr19	10352926:10353098:10353528:10353646:10354042:10354103	10353528:10353646
exon_skip_68857	chr19	10368329:10368418:10378214:10378426:10379615:10379689	10378214:10378426
exon_skip_86020	chr19	10364614:10364771:10364851:10365048:10365517:10365808	10364851:10365048
exon_skip_8685	chr19	10350533:10350968:10351052:10351162:10352434:10352492	10351052:10351162
exon_skip_93405	chr19	10359175:10359302:10360962:10361073:10361511:10361598	10360962:10361073

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 TYK2

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
ENST00000525621	10379615	10379779	3UTR-3UTR
ENST00000264818	10352434	10352551	Frame-shift
ENST00000525621	10352434	10352551	Frame-shift
ENST00000264818	10353528	10353646	Frame-shift
ENST00000525621	10353528	10353646	Frame-shift
ENST00000264818	10359175	10359302	Frame-shift
ENST00000525621	10359175	10359302	Frame-shift
ENST00000264818	10362264	10362456	Frame-shift
ENST00000525621	10362264	10362456	Frame-shift
ENST00000264818	10351052	10351162	In-frame
ENST00000525621	10351052	10351162	In-frame
ENST00000264818	10364851	10365048	In-frame
ENST00000525621	10364851	10365048	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
ENST00000264818	10359175	10359302	Frame-shift
ENST00000525621	10359175	10359302	Frame-shift
ENST00000264818	10351052	10351162	In-frame
ENST00000525621	10351052	10351162	In-frame
ENST00000264818	10364851	10365048	In-frame
ENST00000525621	10364851	10365048	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
ENST00000525621	10378214	10378426	3UTR-3CDS
ENST00000525621	10379615	10379779	3UTR-3UTR
ENST00000264818	10352434	10352551	Frame-shift
ENST00000525621	10352434	10352551	Frame-shift
ENST00000264818	10353528	10353646	Frame-shift
ENST00000525621	10353528	10353646	Frame-shift
ENST00000264818	10357764	10357918	Frame-shift
ENST00000525621	10357764	10357918	Frame-shift
ENST00000264818	10358003	10358138	Frame-shift
ENST00000525621	10358003	10358138	Frame-shift
ENST00000264818	10359175	10359302	Frame-shift
ENST00000525621	10359175	10359302	Frame-shift
ENST00000264818	10361511	10361598	Frame-shift
ENST00000525621	10361511	10361598	Frame-shift
ENST00000264818	10362264	10362456	Frame-shift
ENST00000525621	10362264	10362456	Frame-shift
ENST00000264818	10364614	10364771	Frame-shift
ENST00000525621	10364614	10364771	Frame-shift
ENST00000525621	10368295	10368418	Frame-shift
ENST00000264818	10351052	10351162	In-frame
ENST00000525621	10351052	10351162	In-frame
ENST00000264818	10364851	10365048	In-frame
ENST00000525621	10364851	10365048	In-frame

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Infer the effects of exon skipping event on protein functional features for TYK2

p-ENSG00000105397_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
ENST00000264818	3988	1187	10364851	10365048	1114	1310	337	402
ENST00000525621	4364	1187	10364851	10365048	1494	1690	337	402
ENST00000264818	3988	1187	10351052	10351162	3421	3530	1106	1142
ENST00000525621	4364	1187	10351052	10351162	3801	3910	1106	1142

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
ENST00000264818	3988	1187	10364851	10365048	1114	1310	337	402
ENST00000525621	4364	1187	10364851	10365048	1494	1690	337	402
ENST00000264818	3988	1187	10351052	10351162	3421	3530	1106	1142
ENST00000525621	4364	1187	10351052	10351162	3801	3910	1106	1142

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
ENST00000264818	3988	1187	10364851	10365048	1114	1310	337	402
ENST00000525621	4364	1187	10364851	10365048	1494	1690	337	402
ENST00000264818	3988	1187	10351052	10351162	3421	3530	1106	1142
ENST00000525621	4364	1187	10351052	10351162	3801	3910	1106	1142

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
P29597	337	402	375	378	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	375	378	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	383	389	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	383	389	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	392	397	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	392	397	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	400	406	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	400	406	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	1	1187	Chain	ID=PRO_0000088177;Note=Non-receptor tyrosine-protein kinase TYK2
P29597	337	402	1	1187	Chain	ID=PRO_0000088177;Note=Non-receptor tyrosine-protein kinase TYK2
P29597	337	402	26	431	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
P29597	337	402	26	431	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
P29597	337	402	380	382	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	380	382	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	362	362	Natural variant	ID=VAR_020599;Note=V->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17344846,ECO:0000269\|PubMed:2216457,ECO:0000269\|Ref.2;Dbxref=dbSNP:rs2304256,PMID:17344846,PMID:2216457
P29597	337	402	362	362	Natural variant	ID=VAR_020599;Note=V->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17344846,ECO:0000269\|PubMed:2216457,ECO:0000269\|Ref.2;Dbxref=dbSNP:rs2304256,PMID:17344846,PMID:2216457
P29597	337	402	363	363	Natural variant	ID=VAR_020600;Note=G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17344846,ECO:0000269\|Ref.2;Dbxref=dbSNP:rs2304255,PMID:17344846
P29597	337	402	363	363	Natural variant	ID=VAR_020600;Note=G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17344846,ECO:0000269\|Ref.2;Dbxref=dbSNP:rs2304255,PMID:17344846
P29597	337	402	386	386	Natural variant	ID=VAR_041870;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs55956017,PMID:17344846
P29597	337	402	386	386	Natural variant	ID=VAR_041870;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs55956017,PMID:17344846
P29597	1106	1142	1	1187	Chain	ID=PRO_0000088177;Note=Non-receptor tyrosine-protein kinase TYK2
P29597	1106	1142	1	1187	Chain	ID=PRO_0000088177;Note=Non-receptor tyrosine-protein kinase TYK2
P29597	1106	1142	897	1176	Domain	Note=Protein kinase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P29597	1106	1142	897	1176	Domain	Note=Protein kinase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P29597	1106	1142	1104	1112	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LXP
P29597	1106	1142	1104	1112	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LXP
P29597	1106	1142	1117	1129	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LXP
P29597	1106	1142	1117	1129	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LXP
P29597	1106	1142	1142	1151	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LXP
P29597	1106	1142	1142	1151	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LXP

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
P29597	337	402	375	378	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	375	378	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	383	389	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	383	389	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	392	397	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	392	397	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	400	406	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	400	406	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	1	1187	Chain	ID=PRO_0000088177;Note=Non-receptor tyrosine-protein kinase TYK2
P29597	337	402	1	1187	Chain	ID=PRO_0000088177;Note=Non-receptor tyrosine-protein kinase TYK2
P29597	337	402	26	431	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
P29597	337	402	26	431	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
P29597	337	402	380	382	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	380	382	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	362	362	Natural variant	ID=VAR_020599;Note=V->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17344846,ECO:0000269\|PubMed:2216457,ECO:0000269\|Ref.2;Dbxref=dbSNP:rs2304256,PMID:17344846,PMID:2216457
P29597	337	402	362	362	Natural variant	ID=VAR_020599;Note=V->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17344846,ECO:0000269\|PubMed:2216457,ECO:0000269\|Ref.2;Dbxref=dbSNP:rs2304256,PMID:17344846,PMID:2216457
P29597	337	402	363	363	Natural variant	ID=VAR_020600;Note=G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17344846,ECO:0000269\|Ref.2;Dbxref=dbSNP:rs2304255,PMID:17344846
P29597	337	402	363	363	Natural variant	ID=VAR_020600;Note=G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17344846,ECO:0000269\|Ref.2;Dbxref=dbSNP:rs2304255,PMID:17344846
P29597	337	402	386	386	Natural variant	ID=VAR_041870;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs55956017,PMID:17344846
P29597	337	402	386	386	Natural variant	ID=VAR_041870;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs55956017,PMID:17344846
P29597	1106	1142	1	1187	Chain	ID=PRO_0000088177;Note=Non-receptor tyrosine-protein kinase TYK2
P29597	1106	1142	1	1187	Chain	ID=PRO_0000088177;Note=Non-receptor tyrosine-protein kinase TYK2
P29597	1106	1142	897	1176	Domain	Note=Protein kinase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P29597	1106	1142	897	1176	Domain	Note=Protein kinase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P29597	1106	1142	1104	1112	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LXP
P29597	1106	1142	1104	1112	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LXP
P29597	1106	1142	1117	1129	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LXP
P29597	1106	1142	1117	1129	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LXP
P29597	1106	1142	1142	1151	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LXP
P29597	1106	1142	1142	1151	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LXP

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
P29597	337	402	375	378	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	375	378	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	383	389	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	383	389	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	392	397	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	392	397	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	400	406	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	400	406	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	1	1187	Chain	ID=PRO_0000088177;Note=Non-receptor tyrosine-protein kinase TYK2
P29597	337	402	1	1187	Chain	ID=PRO_0000088177;Note=Non-receptor tyrosine-protein kinase TYK2
P29597	337	402	26	431	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
P29597	337	402	26	431	Domain	Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00084
P29597	337	402	380	382	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	380	382	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4PO6
P29597	337	402	362	362	Natural variant	ID=VAR_020599;Note=V->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17344846,ECO:0000269\|PubMed:2216457,ECO:0000269\|Ref.2;Dbxref=dbSNP:rs2304256,PMID:17344846,PMID:2216457
P29597	337	402	362	362	Natural variant	ID=VAR_020599;Note=V->F;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17344846,ECO:0000269\|PubMed:2216457,ECO:0000269\|Ref.2;Dbxref=dbSNP:rs2304256,PMID:17344846,PMID:2216457
P29597	337	402	363	363	Natural variant	ID=VAR_020600;Note=G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17344846,ECO:0000269\|Ref.2;Dbxref=dbSNP:rs2304255,PMID:17344846
P29597	337	402	363	363	Natural variant	ID=VAR_020600;Note=G->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17344846,ECO:0000269\|Ref.2;Dbxref=dbSNP:rs2304255,PMID:17344846
P29597	337	402	386	386	Natural variant	ID=VAR_041870;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs55956017,PMID:17344846
P29597	337	402	386	386	Natural variant	ID=VAR_041870;Note=V->M;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs55956017,PMID:17344846
P29597	1106	1142	1	1187	Chain	ID=PRO_0000088177;Note=Non-receptor tyrosine-protein kinase TYK2
P29597	1106	1142	1	1187	Chain	ID=PRO_0000088177;Note=Non-receptor tyrosine-protein kinase TYK2
P29597	1106	1142	897	1176	Domain	Note=Protein kinase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P29597	1106	1142	897	1176	Domain	Note=Protein kinase 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P29597	1106	1142	1104	1112	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LXP
P29597	1106	1142	1104	1112	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LXP
P29597	1106	1142	1117	1129	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LXP
P29597	1106	1142	1117	1129	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LXP
P29597	1106	1142	1142	1151	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LXP
P29597	1106	1142	1142	1151	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3LXP

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3'-UTR located exon skipping events that lost miRNA binding sites in TYK2

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
Mayo	ENST00000525621	10379615	10379779	hsa-miR-6737-3p	chr19:10379770-10379777	8mer-1a	chr19:10379755-10379777	148.00	-17.90
Mayo	ENST00000525621	10379615	10379779	hsa-miR-5008-5p	chr19:10379672-10379679	8mer-1a	chr19:10379668-10379689	164.00	-24.58
Mayo	ENST00000525621	10379615	10379779	hsa-miR-5008-3p	chr19:10379770-10379777	8mer-1a	chr19:10379755-10379777	148.00	-17.90
Mayo	ENST00000525621	10379615	10379779	hsa-miR-196a-3p	chr19:10379713-10379720	8mer-1a	chr19:10379694-10379720	146.00	-18.84
Mayo	ENST00000525621	10379615	10379779	hsa-miR-494-3p	chr19:10379737-10379744	8mer-1a	chr19:10379737-10379758	145.00	-20.90
Mayo	ENST00000525621	10379615	10379779	hsa-miR-3180-5p	chr19:10379689-10379696	8mer-1a	chr19:10379687-10379713	155.00	-23.98
Mayo	ENST00000525621	10379615	10379779	hsa-miR-4751	chr19:10379702-10379709	8mer-1a	chr19:10379692-10379713	160.00	-22.83
Mayo	ENST00000525621	10379615	10379779	hsa-miR-7157-3p	chr19:10379770-10379777	8mer-1a	chr19:10379755-10379777	148.00	-17.90
Mayo	ENST00000525621	10379615	10379779	hsa-miR-4639-5p	chr19:10379660-10379667	8mer-1a	chr19:10379647-10379667	156.00	-22.17
Mayo	ENST00000525621	10379615	10379779	hsa-miR-6832-3p	chr19:10379694-10379701	8mer-1a	chr19:10379692-10379713	160.00	-22.83
Mayo	ENST00000525621	10379615	10379779	hsa-miR-219a-1-3p	chr19:10379643-10379650	8mer-1a	chr19:10379628-10379650	151.00	-16.40
ROSMAP	ENST00000525621	10379615	10379779	hsa-miR-6737-3p	chr19:10379770-10379777	8mer-1a	chr19:10379755-10379777	148.00	-17.90
ROSMAP	ENST00000525621	10379615	10379779	hsa-miR-5008-5p	chr19:10379672-10379679	8mer-1a	chr19:10379668-10379689	164.00	-24.58
ROSMAP	ENST00000525621	10379615	10379779	hsa-miR-5008-3p	chr19:10379770-10379777	8mer-1a	chr19:10379755-10379777	148.00	-17.90
ROSMAP	ENST00000525621	10379615	10379779	hsa-miR-196a-3p	chr19:10379713-10379720	8mer-1a	chr19:10379694-10379720	146.00	-18.84
ROSMAP	ENST00000525621	10379615	10379779	hsa-miR-494-3p	chr19:10379737-10379744	8mer-1a	chr19:10379737-10379758	145.00	-20.90
ROSMAP	ENST00000525621	10379615	10379779	hsa-miR-3180-5p	chr19:10379689-10379696	8mer-1a	chr19:10379687-10379713	155.00	-23.98
ROSMAP	ENST00000525621	10379615	10379779	hsa-miR-4751	chr19:10379702-10379709	8mer-1a	chr19:10379692-10379713	160.00	-22.83
ROSMAP	ENST00000525621	10379615	10379779	hsa-miR-7157-3p	chr19:10379770-10379777	8mer-1a	chr19:10379755-10379777	148.00	-17.90
ROSMAP	ENST00000525621	10379615	10379779	hsa-miR-4639-5p	chr19:10379660-10379667	8mer-1a	chr19:10379647-10379667	156.00	-22.17
ROSMAP	ENST00000525621	10379615	10379779	hsa-miR-6832-3p	chr19:10379694-10379701	8mer-1a	chr19:10379692-10379713	160.00	-22.83
ROSMAP	ENST00000525621	10379615	10379779	hsa-miR-219a-1-3p	chr19:10379643-10379650	8mer-1a	chr19:10379628-10379650	151.00	-16.40

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SNVs in the skipped exons for TYK2

- 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 TYK2

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 TYK2

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 TYK2

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	TARDBP	exon_skip_269905	4.211883e-01	3.230645e-08
CB	CNOT4	exon_skip_269905	4.580713e-01	1.269736e-09
CB	TRA2A	exon_skip_269905	4.808451e-01	1.407522e-10
CB	RBM4B	exon_skip_269905	4.161145e-01	4.895941e-08

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RelatedDrugs for TYK2

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

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
P29597	approved\|investigational	DB08895	Tofacitinib	small molecule	P29597
P29597	approved\|investigational	DB12010	Fostamatinib	small molecule	P29597

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RelatedDiseases for TYK2

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 TYK2

Gene structures and expression levels for TYK2

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for TYK2

Open reading frame (ORF) annotation in the exon skipping event for TYK2

Infer the effects of exon skipping event on protein functional features for TYK2

3'-UTR located exon skipping events that lost miRNA binding sites in TYK2

SNVs in the skipped exons for TYK2

AD stage-associated exon skippint events for TYK2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TYK2

Correlation with RNA binding proteins (RBPs) for TYK2

RelatedDrugs for TYK2

RelatedDiseases for TYK2