ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for EIF2AK2

Gene summary

Gene information	Gene symbol	EIF2AK2
	Gene ID	5610
	Gene name	eukaryotic translation initiation factor 2 alpha kinase 2
	Synonyms	EIF2AK1\|PKR\|PPP1R83\|PRKR
	Cytomap	2p22.2
	Type of gene	protein-coding
	Description	interferon-induced, double-stranded RNA-activated protein kinaseP1/eIF-2A protein kinasedouble stranded RNA activated protein kinaseeIF-2A protein kinase 2interferon-inducible elF2alpha kinasep68 kinaseprotein kinase Rprotein kinase, interferon-ind
	Modification date	20200313
	UniProtAcc	B7ZKK7, C9JZT2, F8WBH4, P19525, Q05CP4, Q6PK38, Q8IW76,
	Context

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

Gene	GO ID	GO term	PubMed ID
EIF2AK2	GO:0006468	protein phosphorylation	19189853
EIF2AK2	GO:0017148	negative regulation of translation	12882984
EIF2AK2	GO:0035455	response to interferon-alpha	19840259
EIF2AK2	GO:0046777	protein autophosphorylation	22801494
EIF2AK2	GO:0051092	positive regulation of NF-kappaB transcription factor activity	15121867

Top

Gene structures and expression levels for EIF2AK2

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.

ENSG00000055332

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	UP	ENST00000496059.1	EIF2AK2-207:retained_intron:EIF2AK2	1.025334e+00	9.394095e-01	3.633442e-03	1.510992e-02
TC	UP	ENST00000647926.1	EIF2AK2-208:nonsense_mediated_decay:EIF2AK2	2.653811e+00	8.367318e-01	6.028055e-03	3.849917e-02

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

Top

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for EIF2AK2

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_139358	chr2	37147688:37147822:37148857:37149257:37156908:37156980	37148857:37149257
exon_skip_17137	chr2	37119959:37120139:37122506:37122664:37126289:37126411	37122506:37122664
exon_skip_179334	chr2	37147688:37147822:37148857:37148915:37156908:37156980	37148857:37148915
exon_skip_193120	chr2	37147688:37147822:37148857:37148939:37156908:37156980	37148857:37148939
exon_skip_242394	chr2	37138270:37138363:37138509:37138585:37139631:37139757	37138509:37138585
exon_skip_253566	chr2	37114731:37114859:37119959:37120139:37122506:37122664	37119959:37120139
exon_skip_281686	chr2	37126289:37126411:37135484:37135546:37136983:37137017	37135484:37135546
exon_skip_34050	chr2	37122506:37122664:37126289:37126411:37135484:37135546	37126289:37126411
exon_skip_62507	chr2	37109224:37109295:37114731:37114859:37119959:37120139	37114731:37114859
exon_skip_63665	chr2	37109194:37109295:37114731:37114859:37119959:37120139	37114731:37114859
exon_skip_67302	chr2	37122559:37122664:37126289:37126411:37135484:37135546	37126289:37126411
exon_skip_70884	chr2	37147688:37147822:37148857:37148915:37156908:37157032	37148857:37148915
exon_skip_80125	chr2	37147688:37147822:37148857:37149257:37156908:37157047	37148857:37149257
exon_skip_86091	chr2	37107346:37107395:37107474:37107527:37109194:37109295	37107474:37107527

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

Top

Open reading frame (ORF) annotation in the exon skipping event for EIF2AK2

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
ENST00000233057	37107474	37107527	In-frame
ENST00000395127	37107474	37107527	In-frame
ENST00000233057	37114731	37114859	In-frame
ENST00000395127	37114731	37114859	In-frame
ENST00000233057	37122506	37122664	In-frame
ENST00000395127	37122506	37122664	In-frame
ENST00000233057	37126289	37126411	In-frame
ENST00000395127	37126289	37126411	In-frame
ENST00000233057	37135484	37135546	In-frame
ENST00000395127	37135484	37135546	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
ENST00000233057	37107474	37107527	In-frame
ENST00000395127	37107474	37107527	In-frame
ENST00000233057	37114731	37114859	In-frame
ENST00000395127	37114731	37114859	In-frame
ENST00000233057	37122506	37122664	In-frame
ENST00000395127	37122506	37122664	In-frame
ENST00000233057	37126289	37126411	In-frame
ENST00000395127	37126289	37126411	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
ENST00000395127	37148857	37149257	3UTR-3UTR
ENST00000233057	37119959	37120139	Frame-shift
ENST00000395127	37119959	37120139	Frame-shift
ENST00000233057	37138509	37138585	Frame-shift
ENST00000395127	37138509	37138585	Frame-shift
ENST00000233057	37107474	37107527	In-frame
ENST00000395127	37107474	37107527	In-frame
ENST00000233057	37114731	37114859	In-frame
ENST00000395127	37114731	37114859	In-frame
ENST00000233057	37122506	37122664	In-frame
ENST00000395127	37122506	37122664	In-frame
ENST00000233057	37126289	37126411	In-frame
ENST00000395127	37126289	37126411	In-frame

Top

Infer the effects of exon skipping event on protein functional features for EIF2AK2

p-ENSG00000055332_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
ENST00000233057	10059	551	37135484	37135546	1046	1107	241	261
ENST00000395127	4360	551	37135484	37135546	1280	1341	241	261
ENST00000233057	10059	551	37126289	37126411	1109	1230	262	302
ENST00000395127	4360	551	37126289	37126411	1343	1464	262	302
ENST00000233057	10059	551	37122506	37122664	1232	1389	303	355
ENST00000395127	4360	551	37122506	37122664	1466	1623	303	355
ENST00000233057	10059	551	37114731	37114859	1572	1699	416	458
ENST00000395127	4360	551	37114731	37114859	1806	1933	416	458
ENST00000233057	10059	551	37107474	37107527	1803	1855	493	510
ENST00000395127	4360	551	37107474	37107527	2037	2089	493	510

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
ENST00000233057	10059	551	37126289	37126411	1109	1230	262	302
ENST00000395127	4360	551	37126289	37126411	1343	1464	262	302
ENST00000233057	10059	551	37122506	37122664	1232	1389	303	355
ENST00000395127	4360	551	37122506	37122664	1466	1623	303	355
ENST00000233057	10059	551	37114731	37114859	1572	1699	416	458
ENST00000395127	4360	551	37114731	37114859	1806	1933	416	458
ENST00000233057	10059	551	37107474	37107527	1803	1855	493	510
ENST00000395127	4360	551	37107474	37107527	2037	2089	493	510

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
ENST00000233057	10059	551	37126289	37126411	1109	1230	262	302
ENST00000395127	4360	551	37126289	37126411	1343	1464	262	302
ENST00000233057	10059	551	37122506	37122664	1232	1389	303	355
ENST00000395127	4360	551	37122506	37122664	1466	1623	303	355
ENST00000233057	10059	551	37114731	37114859	1572	1699	416	458
ENST00000395127	4360	551	37114731	37114859	1806	1933	416	458
ENST00000233057	10059	551	37107474	37107527	1803	1855	493	510
ENST00000395127	4360	551	37107474	37107527	2037	2089	493	510

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
P19525	241	261	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	241	261	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	241	261	261	266	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	241	261	261	266	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	241	261	242	242	Modified residue	Note=Phosphoserine%3B by autocatalysis;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:11152499;Dbxref=PMID:11152499
P19525	241	261	242	242	Modified residue	Note=Phosphoserine%3B by autocatalysis;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:11152499;Dbxref=PMID:11152499
P19525	241	261	255	255	Modified residue	Note=Phosphothreonine%3B by autocatalysis;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:11152499;Dbxref=PMID:11152499
P19525	241	261	255	255	Modified residue	Note=Phosphothreonine%3B by autocatalysis;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:11152499;Dbxref=PMID:11152499
P19525	241	261	258	258	Modified residue	Note=Phosphothreonine%3B by autocatalysis;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:11152499;Dbxref=PMID:11152499
P19525	241	261	258	258	Modified residue	Note=Phosphothreonine%3B by autocatalysis;Ontology_term=ECO:0000305;evidence=ECO:0000305\|PubMed:11152499;Dbxref=PMID:11152499
P19525	241	261	242	242	Mutagenesis	Note=Moderate loss of activity%3B when associated with A-255 and A-258. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11152499;Dbxref=PMID:11152499
P19525	241	261	242	242	Mutagenesis	Note=Moderate loss of activity%3B when associated with A-255 and A-258. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11152499;Dbxref=PMID:11152499
P19525	241	261	244	296	Mutagenesis	Note=Loss of activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11337501;Dbxref=PMID:11337501
P19525	241	261	244	296	Mutagenesis	Note=Loss of activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11337501;Dbxref=PMID:11337501
P19525	241	261	255	255	Mutagenesis	Note=Moderate loss of activity%3B when associated with A-242 and A-255. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11152499;Dbxref=PMID:11152499
P19525	241	261	255	255	Mutagenesis	Note=Moderate loss of activity%3B when associated with A-242 and A-255. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11152499;Dbxref=PMID:11152499
P19525	241	261	258	258	Mutagenesis	Note=Moderate loss of activity. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11152499;Dbxref=PMID:11152499
P19525	241	261	258	258	Mutagenesis	Note=Moderate loss of activity. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11152499;Dbxref=PMID:11152499
P19525	262	302	263	303	Alternative sequence	ID=VSP_046177;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
P19525	262	302	263	303	Alternative sequence	ID=VSP_046177;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
P19525	262	302	267	274	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	267	274	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	276	278	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	276	278	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	281	286	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	281	286	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	292	299	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	292	299	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	296	296	Binding site	Note=ATP
P19525	262	302	296	296	Binding site	Note=ATP
P19525	262	302	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	262	302	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	262	302	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	262	302	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	262	302	261	266	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	261	266	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	293	293	Modified residue	Note=Phosphotyrosine%3B by autocatalysis;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16373505;Dbxref=PMID:16373505
P19525	262	302	293	293	Modified residue	Note=Phosphotyrosine%3B by autocatalysis;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16373505;Dbxref=PMID:16373505
P19525	262	302	244	296	Mutagenesis	Note=Loss of activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11337501;Dbxref=PMID:11337501
P19525	262	302	244	296	Mutagenesis	Note=Loss of activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11337501;Dbxref=PMID:11337501
P19525	262	302	296	296	Mutagenesis	Note=Loss of activity. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11152499;Dbxref=PMID:11152499
P19525	262	302	296	296	Mutagenesis	Note=Loss of activity. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11152499;Dbxref=PMID:11152499
P19525	262	302	273	281	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	262	302	273	281	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	262	302	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	262	302	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	262	302	287	289	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	287	289	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	263	303	Alternative sequence	ID=VSP_046177;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
P19525	303	355	263	303	Alternative sequence	ID=VSP_046177;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
P19525	303	355	323	332	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	323	332	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	303	355	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	303	355	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	303	355	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	303	355	303	305	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	303	305	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	306	314	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	306	314	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	303	355	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	303	355	331	357	Region	Note=2 X 13 AA approximate repeats
P19525	303	355	331	357	Region	Note=2 X 13 AA approximate repeats
P19525	303	355	331	343	Repeat	Note=1
P19525	303	355	331	343	Repeat	Note=1
P19525	303	355	345	357	Repeat	Note=2
P19525	303	355	345	357	Repeat	Note=2
P19525	416	458	420	424	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	420	424	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	427	430	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	427	430	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	437	440	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	437	440	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	416	458	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	416	458	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	416	458	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	416	458	417	419	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	417	419	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	457	461	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	457	461	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	446	446	Modified residue	Note=Phosphothreonine%3B by autocatalysis;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11337501,ECO:0000269\|PubMed:16179258;Dbxref=PMID:11337501,PMID:16179258
P19525	416	458	446	446	Modified residue	Note=Phosphothreonine%3B by autocatalysis;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11337501,ECO:0000269\|PubMed:16179258;Dbxref=PMID:11337501,PMID:16179258
P19525	416	458	451	451	Modified residue	Note=Phosphothreonine%3B by autocatalysis;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11337501,ECO:0000269\|PubMed:20685959;Dbxref=PMID:11337501,PMID:20685959
P19525	416	458	451	451	Modified residue	Note=Phosphothreonine%3B by autocatalysis;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11337501,ECO:0000269\|PubMed:20685959;Dbxref=PMID:11337501,PMID:20685959
P19525	416	458	456	456	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P19525	416	458	456	456	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P19525	416	458	446	446	Mutagenesis	Note=Significant loss of activity and impairs autophosphorylation of T-451. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11337501;Dbxref=PMID:11337501
P19525	416	458	446	446	Mutagenesis	Note=Significant loss of activity and impairs autophosphorylation of T-451. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11337501;Dbxref=PMID:11337501
P19525	416	458	451	451	Mutagenesis	Note=Loss of activity. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11337501;Dbxref=PMID:11337501
P19525	416	458	451	451	Mutagenesis	Note=Loss of activity. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11337501;Dbxref=PMID:11337501
P19525	416	458	428	428	Natural variant	ID=VAR_040474;Note=V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56219559,PMID:17344846
P19525	416	458	428	428	Natural variant	ID=VAR_040474;Note=V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56219559,PMID:17344846
P19525	416	458	439	439	Natural variant	ID=VAR_040475;Note=In a lung adenocarcinoma sample%3B somatic mutation. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=PMID:17344846
P19525	416	458	439	439	Natural variant	ID=VAR_040475;Note=In a lung adenocarcinoma sample%3B somatic mutation. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=PMID:17344846
P19525	416	458	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	416	458	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	493	510	505	507	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UIU
P19525	493	510	505	507	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UIU
P19525	493	510	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	493	510	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	493	510	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	493	510	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	493	510	488	499	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	493	510	488	499	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	493	510	509	518	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	493	510	509	518	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	493	510	506	506	Natural variant	ID=VAR_040476;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs34821155,PMID:17344846
P19525	493	510	506	506	Natural variant	ID=VAR_040476;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs34821155,PMID:17344846
P19525	493	510	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	493	510	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867

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
P19525	262	302	263	303	Alternative sequence	ID=VSP_046177;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
P19525	262	302	263	303	Alternative sequence	ID=VSP_046177;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
P19525	262	302	267	274	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	267	274	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	276	278	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	276	278	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	281	286	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	281	286	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	292	299	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	292	299	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	296	296	Binding site	Note=ATP
P19525	262	302	296	296	Binding site	Note=ATP
P19525	262	302	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	262	302	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	262	302	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	262	302	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	262	302	261	266	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	261	266	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	293	293	Modified residue	Note=Phosphotyrosine%3B by autocatalysis;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16373505;Dbxref=PMID:16373505
P19525	262	302	293	293	Modified residue	Note=Phosphotyrosine%3B by autocatalysis;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16373505;Dbxref=PMID:16373505
P19525	262	302	244	296	Mutagenesis	Note=Loss of activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11337501;Dbxref=PMID:11337501
P19525	262	302	244	296	Mutagenesis	Note=Loss of activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11337501;Dbxref=PMID:11337501
P19525	262	302	296	296	Mutagenesis	Note=Loss of activity. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11152499;Dbxref=PMID:11152499
P19525	262	302	296	296	Mutagenesis	Note=Loss of activity. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11152499;Dbxref=PMID:11152499
P19525	262	302	273	281	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	262	302	273	281	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	262	302	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	262	302	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	262	302	287	289	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	287	289	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	263	303	Alternative sequence	ID=VSP_046177;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
P19525	303	355	263	303	Alternative sequence	ID=VSP_046177;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
P19525	303	355	323	332	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	323	332	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	303	355	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	303	355	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	303	355	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	303	355	303	305	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	303	305	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	306	314	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	306	314	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	303	355	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	303	355	331	357	Region	Note=2 X 13 AA approximate repeats
P19525	303	355	331	357	Region	Note=2 X 13 AA approximate repeats
P19525	303	355	331	343	Repeat	Note=1
P19525	303	355	331	343	Repeat	Note=1
P19525	303	355	345	357	Repeat	Note=2
P19525	303	355	345	357	Repeat	Note=2
P19525	416	458	420	424	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	420	424	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	427	430	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	427	430	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	437	440	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	437	440	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	416	458	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	416	458	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	416	458	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	416	458	417	419	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	417	419	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	457	461	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	457	461	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	446	446	Modified residue	Note=Phosphothreonine%3B by autocatalysis;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11337501,ECO:0000269\|PubMed:16179258;Dbxref=PMID:11337501,PMID:16179258
P19525	416	458	446	446	Modified residue	Note=Phosphothreonine%3B by autocatalysis;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11337501,ECO:0000269\|PubMed:16179258;Dbxref=PMID:11337501,PMID:16179258
P19525	416	458	451	451	Modified residue	Note=Phosphothreonine%3B by autocatalysis;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11337501,ECO:0000269\|PubMed:20685959;Dbxref=PMID:11337501,PMID:20685959
P19525	416	458	451	451	Modified residue	Note=Phosphothreonine%3B by autocatalysis;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11337501,ECO:0000269\|PubMed:20685959;Dbxref=PMID:11337501,PMID:20685959
P19525	416	458	456	456	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P19525	416	458	456	456	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P19525	416	458	446	446	Mutagenesis	Note=Significant loss of activity and impairs autophosphorylation of T-451. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11337501;Dbxref=PMID:11337501
P19525	416	458	446	446	Mutagenesis	Note=Significant loss of activity and impairs autophosphorylation of T-451. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11337501;Dbxref=PMID:11337501
P19525	416	458	451	451	Mutagenesis	Note=Loss of activity. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11337501;Dbxref=PMID:11337501
P19525	416	458	451	451	Mutagenesis	Note=Loss of activity. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11337501;Dbxref=PMID:11337501
P19525	416	458	428	428	Natural variant	ID=VAR_040474;Note=V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56219559,PMID:17344846
P19525	416	458	428	428	Natural variant	ID=VAR_040474;Note=V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56219559,PMID:17344846
P19525	416	458	439	439	Natural variant	ID=VAR_040475;Note=In a lung adenocarcinoma sample%3B somatic mutation. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=PMID:17344846
P19525	416	458	439	439	Natural variant	ID=VAR_040475;Note=In a lung adenocarcinoma sample%3B somatic mutation. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=PMID:17344846
P19525	416	458	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	416	458	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	493	510	505	507	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UIU
P19525	493	510	505	507	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UIU
P19525	493	510	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	493	510	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	493	510	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	493	510	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	493	510	488	499	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	493	510	488	499	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	493	510	509	518	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	493	510	509	518	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	493	510	506	506	Natural variant	ID=VAR_040476;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs34821155,PMID:17344846
P19525	493	510	506	506	Natural variant	ID=VAR_040476;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs34821155,PMID:17344846
P19525	493	510	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	493	510	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867

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
P19525	262	302	263	303	Alternative sequence	ID=VSP_046177;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
P19525	262	302	263	303	Alternative sequence	ID=VSP_046177;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
P19525	262	302	267	274	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	267	274	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	276	278	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	276	278	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	281	286	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	281	286	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	292	299	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	292	299	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	296	296	Binding site	Note=ATP
P19525	262	302	296	296	Binding site	Note=ATP
P19525	262	302	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	262	302	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	262	302	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	262	302	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	262	302	261	266	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	261	266	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	293	293	Modified residue	Note=Phosphotyrosine%3B by autocatalysis;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16373505;Dbxref=PMID:16373505
P19525	262	302	293	293	Modified residue	Note=Phosphotyrosine%3B by autocatalysis;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16373505;Dbxref=PMID:16373505
P19525	262	302	244	296	Mutagenesis	Note=Loss of activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11337501;Dbxref=PMID:11337501
P19525	262	302	244	296	Mutagenesis	Note=Loss of activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11337501;Dbxref=PMID:11337501
P19525	262	302	296	296	Mutagenesis	Note=Loss of activity. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11152499;Dbxref=PMID:11152499
P19525	262	302	296	296	Mutagenesis	Note=Loss of activity. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11152499;Dbxref=PMID:11152499
P19525	262	302	273	281	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	262	302	273	281	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	262	302	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	262	302	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	262	302	287	289	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	262	302	287	289	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	263	303	Alternative sequence	ID=VSP_046177;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
P19525	303	355	263	303	Alternative sequence	ID=VSP_046177;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.7
P19525	303	355	323	332	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	323	332	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	303	355	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	303	355	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	303	355	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	303	355	303	305	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	303	305	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	306	314	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	306	314	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	303	355	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	303	355	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	303	355	331	357	Region	Note=2 X 13 AA approximate repeats
P19525	303	355	331	357	Region	Note=2 X 13 AA approximate repeats
P19525	303	355	331	343	Repeat	Note=1
P19525	303	355	331	343	Repeat	Note=1
P19525	303	355	345	357	Repeat	Note=2
P19525	303	355	345	357	Repeat	Note=2
P19525	416	458	420	424	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	420	424	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	427	430	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	427	430	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	437	440	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	437	440	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	416	458	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	416	458	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	416	458	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	416	458	417	419	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	417	419	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	457	461	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	457	461	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	416	458	446	446	Modified residue	Note=Phosphothreonine%3B by autocatalysis;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11337501,ECO:0000269\|PubMed:16179258;Dbxref=PMID:11337501,PMID:16179258
P19525	416	458	446	446	Modified residue	Note=Phosphothreonine%3B by autocatalysis;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11337501,ECO:0000269\|PubMed:16179258;Dbxref=PMID:11337501,PMID:16179258
P19525	416	458	451	451	Modified residue	Note=Phosphothreonine%3B by autocatalysis;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11337501,ECO:0000269\|PubMed:20685959;Dbxref=PMID:11337501,PMID:20685959
P19525	416	458	451	451	Modified residue	Note=Phosphothreonine%3B by autocatalysis;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11337501,ECO:0000269\|PubMed:20685959;Dbxref=PMID:11337501,PMID:20685959
P19525	416	458	456	456	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P19525	416	458	456	456	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P19525	416	458	446	446	Mutagenesis	Note=Significant loss of activity and impairs autophosphorylation of T-451. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11337501;Dbxref=PMID:11337501
P19525	416	458	446	446	Mutagenesis	Note=Significant loss of activity and impairs autophosphorylation of T-451. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11337501;Dbxref=PMID:11337501
P19525	416	458	451	451	Mutagenesis	Note=Loss of activity. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11337501;Dbxref=PMID:11337501
P19525	416	458	451	451	Mutagenesis	Note=Loss of activity. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11337501;Dbxref=PMID:11337501
P19525	416	458	428	428	Natural variant	ID=VAR_040474;Note=V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56219559,PMID:17344846
P19525	416	458	428	428	Natural variant	ID=VAR_040474;Note=V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs56219559,PMID:17344846
P19525	416	458	439	439	Natural variant	ID=VAR_040475;Note=In a lung adenocarcinoma sample%3B somatic mutation. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=PMID:17344846
P19525	416	458	439	439	Natural variant	ID=VAR_040475;Note=In a lung adenocarcinoma sample%3B somatic mutation. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=PMID:17344846
P19525	416	458	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	416	458	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	493	510	505	507	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UIU
P19525	493	510	505	507	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3UIU
P19525	493	510	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	493	510	2	551	Chain	ID=PRO_0000085945;Note=Interferon-induced%2C double-stranded RNA-activated protein kinase
P19525	493	510	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	493	510	267	538	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P19525	493	510	488	499	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	493	510	488	499	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	493	510	509	518	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	493	510	509	518	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2A19
P19525	493	510	506	506	Natural variant	ID=VAR_040476;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs34821155,PMID:17344846
P19525	493	510	506	506	Natural variant	ID=VAR_040476;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs34821155,PMID:17344846
P19525	493	510	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867
P19525	493	510	266	551	Region	Note=Interaction with TRAF5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15121867;Dbxref=PMID:15121867

Top

3'-UTR located exon skipping events that lost miRNA binding sites in EIF2AK2

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	ENST00000395127	37148857	37149257	hsa-miR-6736-3p	chr2:37149213-37149220	8mer-1a	chr2:37149211-37149233	170.00	-30.72
Mayo	ENST00000395127	37148857	37149257	hsa-miR-3120-5p	chr2:37149071-37149078	8mer-1a	chr2:37149058-37149078	162.00	-19.22
Mayo	ENST00000395127	37148857	37149257	hsa-miR-4753-3p	chr2:37149030-37149037	8mer-1a	chr2:37149016-37149037	146.00	-14.00
Mayo	ENST00000395127	37148857	37149257	hsa-miR-130a-5p	chr2:37149029-37149036	8mer-1a	chr2:37149016-37149036	149.00	-11.16
Mayo	ENST00000395127	37148857	37149257	hsa-miR-3164	chr2:37149237-37149244	8mer-1a	chr2:37149224-37149246	152.00	-18.68
Mayo	ENST00000395127	37148857	37149257	hsa-miR-548c-3p	chr2:37149126-37149133	8mer-1a	chr2:37149121-37149141	154.00	-14.01
Mayo	ENST00000395127	37148857	37149257	hsa-miR-345-5p	chr2:37148942-37148949	8mer-1a	chr2:37148938-37148960	166.00	-19.17
Mayo	ENST00000395127	37148857	37149257	hsa-miR-758-3p	chr2:37149239-37149246	8mer-1a	chr2:37149224-37149246	152.00	-18.68
Mayo	ENST00000395127	37148857	37149257	hsa-miR-4520-5p	chr2:37148882-37148889	8mer-1a	chr2:37148870-37148889	155.00	-14.24
Mayo	ENST00000395127	37148857	37149257	hsa-miR-7850-5p	chr2:37148872-37148879	8mer-1a	chr2:37148859-37148879	155.00	-14.39
Mayo	ENST00000395127	37148857	37149257	hsa-miR-3191-5p	chr2:37148926-37148933	8mer-1a	chr2:37148912-37148933	164.00	-19.82
Mayo	ENST00000395127	37148857	37149257	hsa-miR-1323	chr2:37148965-37148972	8mer-1a	chr2:37148949-37148972	161.00	-16.63
Mayo	ENST00000395127	37148857	37149257	hsa-miR-516b-5p	chr2:37149015-37149022	8mer-1a	chr2:37149012-37149033	163.00	-14.78
Mayo	ENST00000395127	37148857	37149257	hsa-miR-3681-3p	chr2:37149225-37149232	8mer-1a	chr2:37149211-37149233	170.00	-30.72
Mayo	ENST00000395127	37148857	37149257	hsa-miR-216a-3p	chr2:37149225-37149232	8mer-1a	chr2:37149211-37149233	170.00	-30.72
Mayo	ENST00000395127	37148857	37149257	hsa-miR-128-3p	chr2:37149225-37149232	8mer-1a	chr2:37149211-37149233	170.00	-30.72
Mayo	ENST00000395127	37148857	37149257	hsa-miR-548o-3p	chr2:37148965-37148972	8mer-1a	chr2:37148949-37148972	161.00	-16.63
Mayo	ENST00000395127	37148857	37149257	hsa-miR-1-5p	chr2:37149245-37149252	8mer-1a	chr2:37149231-37149252	154.00	-8.22
Mayo	ENST00000395127	37148857	37149257	hsa-miR-6820-3p	chr2:37149237-37149244	8mer-1a	chr2:37149224-37149246	152.00	-18.68
Mayo	ENST00000395127	37148857	37149257	hsa-miR-4650-3p	chr2:37149200-37149207	8mer-1a	chr2:37149185-37149207	158.00	-22.94
Mayo	ENST00000395127	37148857	37149257	hsa-miR-4768-3p	chr2:37149120-37149127	8mer-1a	chr2:37149108-37149127	153.00	-19.31
Mayo	ENST00000395127	37148857	37149257	hsa-miR-374b-3p	chr2:37148958-37148965	8mer-1a	chr2:37148949-37148972	161.00	-16.63

Top

SNVs in the skipped exons for EIF2AK2

- 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

Top

AD stage-associated exon skippint events for EIF2AK2

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

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EIF2AK2

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

Top

Correlation with RNA binding proteins (RBPs) for EIF2AK2

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

Top

RelatedDrugs for EIF2AK2

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

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
P19525	approved\|investigational	DB12010	Fostamatinib	small molecule	P19525

Top

RelatedDiseases for EIF2AK2

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

Home

Download

Statistics

Landscape

Help

Contact

Gene summary for EIF2AK2

Gene structures and expression levels for EIF2AK2

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for EIF2AK2

Open reading frame (ORF) annotation in the exon skipping event for EIF2AK2

Infer the effects of exon skipping event on protein functional features for EIF2AK2

3'-UTR located exon skipping events that lost miRNA binding sites in EIF2AK2

SNVs in the skipped exons for EIF2AK2

AD stage-associated exon skippint events for EIF2AK2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EIF2AK2

Correlation with RNA binding proteins (RBPs) for EIF2AK2

RelatedDrugs for EIF2AK2

RelatedDiseases for EIF2AK2