ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for CAMKK2

Gene summary

Gene information	Gene symbol	CAMKK2
	Gene ID	10645
	Gene name	calcium/calmodulin dependent protein kinase kinase 2
	Synonyms	CAMKK\|CAMKKB
	Cytomap	12q24.31
	Type of gene	protein-coding
	Description	calcium/calmodulin-dependent protein kinase kinase 2CAMKK beta proteincaM-KK 2caM-KK betacaM-kinase kinase 2caM-kinase kinase betacalcium/calmodulin-dependent protein kinase betacalcium/calmodulin-dependent protein kinase kinase 2, beta
	Modification date	20200313
	UniProtAcc	A0A024RBP6, A0A024RBP8, A0A024RBQ0, A0A024RBQ3, F5GZ00, F5H360, F5H4I7, Q8IZW1, Q96RR4,
	Context	- 30525042(Loss of Ca 2+)/Calmodulin Dependent Protein Kinase Kinase 2 Leads to Aberrant Transferrin Phosphorylation and Trafficking: A Potential Biomarker for Alzheimer's Disease)

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

Gene	GO ID	GO term	PubMed ID
CAMKK2	GO:0006468	protein phosphorylation	11395482
CAMKK2	GO:0046777	protein autophosphorylation	11395482

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Gene structures and expression levels for CAMKK2

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.

ENSG00000110931

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	ENST00000337174.7	CAMKK2-202:protein_coding:CAMKK2	1.153954e+02	1.097007e+00	8.049189e-03	2.910733e-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 CAMKK2

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_101095	chr12	121260319:121260355:121263806:121263939:121268638:121268689	121263806:121263939
exon_skip_10142	chr12	121245209:121245240:121248606:121248734:121249787:121249874	121248606:121248734
exon_skip_108249	chr12	121240547:121240869:121245140:121245240:121249787:121249874	121245140:121245240
exon_skip_131434	chr12	121269528:121269581:121270898:121270945:121274056:121274103	121270898:121270945
exon_skip_146239	chr12	121253273:121253472:121255550:121255638:121255783:121255804	121255550:121255638
exon_skip_147497	chr12	121240547:121240869:121245140:121245240:121248606:121248734	121245140:121245240
exon_skip_161173	chr12	121240717:121240869:121244573:121244615:121245140:121245240	121244573:121244615
exon_skip_164327	chr12	121240547:121240869:121244573:121244615:121245140:121245240	121244573:121244615
exon_skip_172398	chr12	121269528:121269581:121270898:121270945:121274056:121274370	121270898:121270945
exon_skip_176035	chr12	121270898:121270945:121274056:121274585:121296638:121296673	121274056:121274585
exon_skip_212081	chr12	121249961:121250034:121252661:121252714:121253273:121253472	121252661:121252714
exon_skip_213921	chr12	121245140:121245240:121248606:121248734:121249787:121249874	121248606:121248734
exon_skip_255643	chr12	121270898:121270945:121274056:121274585:121297539:121298057	121274056:121274585
exon_skip_279729	chr12	121255783:121255804:121260319:121260355:121263806:121263939	121260319:121260355
exon_skip_296615	chr12	121240829:121240869:121244573:121244615:121245140:121245240	121244573:121244615
exon_skip_35198	chr12	121269528:121269581:121269789:121269884:121270898:121270945	121269789:121269884
exon_skip_72435	chr12	121249787:121249874:121249961:121250034:121252661:121252714	121249961:121250034
exon_skip_83795	chr12	121240547:121240869:121244573:121244615:121245140:121245166	121244573:121244615
exon_skip_91644	chr12	121245140:121245240:121248606:121248734:121249787:121249863	121248606:121248734
exon_skip_98817	chr12	121240800:121240869:121244573:121244615:121245140:121245240	121244573:121244615

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 CAMKK2

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
ENST00000324774	121274056	121274585	3UTR-3CDS
ENST00000402834	121274056	121274585	3UTR-3CDS
ENST00000404169	121274056	121274585	3UTR-3CDS
ENST00000324774	121244573	121244615	Frame-shift
ENST00000402834	121244573	121244615	Frame-shift
ENST00000404169	121244573	121244615	Frame-shift
ENST00000324774	121249961	121250034	Frame-shift
ENST00000402834	121249961	121250034	Frame-shift
ENST00000404169	121249961	121250034	Frame-shift
ENST00000324774	121255550	121255638	Frame-shift
ENST00000402834	121255550	121255638	Frame-shift
ENST00000404169	121255550	121255638	Frame-shift
ENST00000324774	121260319	121260355	Frame-shift
ENST00000402834	121260319	121260355	Frame-shift
ENST00000404169	121260319	121260355	Frame-shift
ENST00000324774	121248606	121248734	In-frame
ENST00000402834	121248606	121248734	In-frame
ENST00000404169	121248606	121248734	In-frame
ENST00000324774	121270898	121270945	In-frame
ENST00000402834	121270898	121270945	In-frame
ENST00000404169	121270898	121270945	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
ENST00000324774	121274056	121274585	3UTR-3CDS
ENST00000402834	121274056	121274585	3UTR-3CDS
ENST00000404169	121274056	121274585	3UTR-3CDS
ENST00000324774	121244573	121244615	Frame-shift
ENST00000402834	121244573	121244615	Frame-shift
ENST00000404169	121244573	121244615	Frame-shift
ENST00000324774	121249961	121250034	Frame-shift
ENST00000402834	121249961	121250034	Frame-shift
ENST00000404169	121249961	121250034	Frame-shift
ENST00000324774	121260319	121260355	Frame-shift
ENST00000402834	121260319	121260355	Frame-shift
ENST00000404169	121260319	121260355	Frame-shift
ENST00000324774	121248606	121248734	In-frame
ENST00000402834	121248606	121248734	In-frame
ENST00000404169	121248606	121248734	In-frame
ENST00000324774	121270898	121270945	In-frame
ENST00000402834	121270898	121270945	In-frame
ENST00000404169	121270898	121270945	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
ENST00000324774	121274056	121274585	3UTR-3CDS
ENST00000402834	121274056	121274585	3UTR-3CDS
ENST00000404169	121274056	121274585	3UTR-3CDS
ENST00000324774	121244573	121244615	Frame-shift
ENST00000402834	121244573	121244615	Frame-shift
ENST00000404169	121244573	121244615	Frame-shift
ENST00000324774	121249961	121250034	Frame-shift
ENST00000402834	121249961	121250034	Frame-shift
ENST00000404169	121249961	121250034	Frame-shift
ENST00000324774	121255550	121255638	Frame-shift
ENST00000402834	121255550	121255638	Frame-shift
ENST00000404169	121255550	121255638	Frame-shift
ENST00000324774	121260319	121260355	Frame-shift
ENST00000402834	121260319	121260355	Frame-shift
ENST00000404169	121260319	121260355	Frame-shift
ENST00000324774	121263806	121263939	Frame-shift
ENST00000402834	121263806	121263939	Frame-shift
ENST00000404169	121263806	121263939	Frame-shift
ENST00000324774	121248606	121248734	In-frame
ENST00000402834	121248606	121248734	In-frame
ENST00000404169	121248606	121248734	In-frame
ENST00000324774	121252661	121252714	In-frame
ENST00000402834	121252661	121252714	In-frame
ENST00000404169	121252661	121252714	In-frame
ENST00000324774	121270898	121270945	In-frame
ENST00000402834	121270898	121270945	In-frame
ENST00000404169	121270898	121270945	In-frame

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Infer the effects of exon skipping event on protein functional features for CAMKK2

p-ENSG00000110931_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
ENST00000324774	5615	588	121270898	121270945	1301	1347	157	172
ENST00000402834	2068	588	121270898	121270945	604	650	157	172
ENST00000404169	2133	588	121270898	121270945	647	693	157	172
ENST00000324774	5615	588	121248606	121248734	2153	2280	441	483
ENST00000402834	2068	588	121248606	121248734	1456	1583	441	483
ENST00000404169	2133	588	121248606	121248734	1499	1626	441	483

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
ENST00000324774	5615	588	121270898	121270945	1301	1347	157	172
ENST00000402834	2068	588	121270898	121270945	604	650	157	172
ENST00000404169	2133	588	121270898	121270945	647	693	157	172
ENST00000324774	5615	588	121248606	121248734	2153	2280	441	483
ENST00000402834	2068	588	121248606	121248734	1456	1583	441	483
ENST00000404169	2133	588	121248606	121248734	1499	1626	441	483

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
ENST00000324774	5615	588	121270898	121270945	1301	1347	157	172
ENST00000402834	2068	588	121270898	121270945	604	650	157	172
ENST00000404169	2133	588	121270898	121270945	647	693	157	172
ENST00000324774	5615	588	121252661	121252714	1937	1989	369	386
ENST00000402834	2068	588	121252661	121252714	1240	1292	369	386
ENST00000404169	2133	588	121252661	121252714	1283	1335	369	386
ENST00000324774	5615	588	121248606	121248734	2153	2280	441	483
ENST00000402834	2068	588	121248606	121248734	1456	1583	441	483
ENST00000404169	2133	588	121248606	121248734	1499	1626	441	483

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
Q96RR4	157	172	165	172	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	157	172	165	172	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	157	172	165	172	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	157	172	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	157	172	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	157	172	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	157	172	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	157	172	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	157	172	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	157	172	171	179	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	157	172	171	179	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	157	172	171	179	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	441	483	442	484	Alternative sequence	ID=VSP_012142;Note=In isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11395482,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11395482,PMID:15489334
Q96RR4	441	483	442	484	Alternative sequence	ID=VSP_012142;Note=In isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11395482,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11395482,PMID:15489334
Q96RR4	441	483	442	484	Alternative sequence	ID=VSP_012142;Note=In isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11395482,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11395482,PMID:15489334
Q96RR4	441	483	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	441	483	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	441	483	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	441	483	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	441	483	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	441	483	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	441	483	444	447	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	441	483	444	447	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	441	483	444	447	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	441	483	457	461	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CMJ
Q96RR4	441	483	457	461	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CMJ
Q96RR4	441	483	457	461	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CMJ
Q96RR4	441	483	472	477	Region	Note=Autoinhibitory domain;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RR4	441	483	472	477	Region	Note=Autoinhibitory domain;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RR4	441	483	472	477	Region	Note=Autoinhibitory domain;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RR4	441	483	475	500	Region	Note=Calmodulin-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RR4	441	483	475	500	Region	Note=Calmodulin-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RR4	441	483	475	500	Region	Note=Calmodulin-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RR4	441	483	448	451	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CMJ
Q96RR4	441	483	448	451	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CMJ
Q96RR4	441	483	448	451	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CMJ

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
Q96RR4	157	172	165	172	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	157	172	165	172	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	157	172	165	172	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	157	172	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	157	172	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	157	172	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	157	172	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	157	172	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	157	172	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	157	172	171	179	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	157	172	171	179	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	157	172	171	179	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	441	483	442	484	Alternative sequence	ID=VSP_012142;Note=In isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11395482,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11395482,PMID:15489334
Q96RR4	441	483	442	484	Alternative sequence	ID=VSP_012142;Note=In isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11395482,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11395482,PMID:15489334
Q96RR4	441	483	442	484	Alternative sequence	ID=VSP_012142;Note=In isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11395482,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11395482,PMID:15489334
Q96RR4	441	483	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	441	483	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	441	483	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	441	483	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	441	483	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	441	483	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	441	483	444	447	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	441	483	444	447	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	441	483	444	447	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	441	483	457	461	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CMJ
Q96RR4	441	483	457	461	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CMJ
Q96RR4	441	483	457	461	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CMJ
Q96RR4	441	483	472	477	Region	Note=Autoinhibitory domain;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RR4	441	483	472	477	Region	Note=Autoinhibitory domain;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RR4	441	483	472	477	Region	Note=Autoinhibitory domain;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RR4	441	483	475	500	Region	Note=Calmodulin-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RR4	441	483	475	500	Region	Note=Calmodulin-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RR4	441	483	475	500	Region	Note=Calmodulin-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RR4	441	483	448	451	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CMJ
Q96RR4	441	483	448	451	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CMJ
Q96RR4	441	483	448	451	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CMJ

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
Q96RR4	157	172	165	172	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	157	172	165	172	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	157	172	165	172	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	157	172	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	157	172	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	157	172	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	157	172	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	157	172	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	157	172	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	157	172	171	179	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	157	172	171	179	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	157	172	171	179	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	369	386	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	369	386	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	369	386	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	369	386	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	369	386	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	369	386	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	369	386	368	385	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	369	386	368	385	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	369	386	368	385	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	369	386	371	371	Sequence conflict	Note=L->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96RR4	369	386	371	371	Sequence conflict	Note=L->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96RR4	369	386	371	371	Sequence conflict	Note=L->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96RR4	441	483	442	484	Alternative sequence	ID=VSP_012142;Note=In isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11395482,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11395482,PMID:15489334
Q96RR4	441	483	442	484	Alternative sequence	ID=VSP_012142;Note=In isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11395482,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11395482,PMID:15489334
Q96RR4	441	483	442	484	Alternative sequence	ID=VSP_012142;Note=In isoform 4%2C isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:11395482,ECO:0000303\|PubMed:15489334;Dbxref=PMID:11395482,PMID:15489334
Q96RR4	441	483	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	441	483	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	441	483	2	588	Chain	ID=PRO_0000086144;Note=Calcium/calmodulin-dependent protein kinase kinase 2
Q96RR4	441	483	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	441	483	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	441	483	165	446	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q96RR4	441	483	444	447	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	441	483	444	447	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	441	483	444	447	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5UYJ
Q96RR4	441	483	457	461	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CMJ
Q96RR4	441	483	457	461	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CMJ
Q96RR4	441	483	457	461	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CMJ
Q96RR4	441	483	472	477	Region	Note=Autoinhibitory domain;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RR4	441	483	472	477	Region	Note=Autoinhibitory domain;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RR4	441	483	472	477	Region	Note=Autoinhibitory domain;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RR4	441	483	475	500	Region	Note=Calmodulin-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RR4	441	483	475	500	Region	Note=Calmodulin-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RR4	441	483	475	500	Region	Note=Calmodulin-binding;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96RR4	441	483	448	451	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CMJ
Q96RR4	441	483	448	451	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CMJ
Q96RR4	441	483	448	451	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6CMJ

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3'-UTR located exon skipping events that lost miRNA binding sites in CAMKK2

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

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SNVs in the skipped exons for CAMKK2

- 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 CAMKK2

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 CAMKK2

sQTL information located at the skipped exons.

Tissue type	Exon skip ID	SNP id	Location	P-value	FDR
CB	exon_skip_83795	rs1140886	chr12:121243733	1.829788e-04	2.784697e-02

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Correlation with RNA binding proteins (RBPs) for CAMKK2

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	NUP42	exon_skip_83795	4.873265e-01	7.303169e-11
CB	PABPC1	exon_skip_83795	4.001221e-01	1.736793e-07
CB	TARDBP	exon_skip_100054	-4.283690e-01	2.693369e-07
CB	SAMD4A	exon_skip_100054	-4.805536e-01	4.799098e-09
CB	CNOT4	exon_skip_100054	-4.295501e-01	2.476626e-07
CB	PCBP1	exon_skip_100054	-4.676138e-01	1.388454e-08
CB	PCBP4	exon_skip_100054	5.103515e-01	3.489946e-10
CB	HNRNPA2B1	exon_skip_100054	-4.826158e-01	4.035017e-09
CB	HNRNPF	exon_skip_100054	-4.288645e-01	2.600321e-07
CB	RBM4	exon_skip_100054	-5.452157e-01	1.157563e-11
HCC	RBM6	exon_skip_164327	-6.588317e-01	5.411961e-34
HCC	RBM5	exon_skip_164327	-6.338862e-01	7.559859e-31
HCC	IGF2BP2	exon_skip_164327	-4.064363e-01	7.645328e-12
HCC	PABPC1	exon_skip_164327	-4.222350e-01	9.442460e-13
HCC	PABPC4	exon_skip_164327	-4.386487e-01	9.546690e-14
IFG	PABPC3	exon_skip_164327	-5.041738e-01	7.328737e-03
IFG	PABPC1	exon_skip_164327	-4.477885e-01	1.916931e-02
PG	HNRNPK	exon_skip_164327	4.068610e-01	2.874848e-07
PG	NOVA1	exon_skip_164327	4.352770e-01	3.226923e-08
STG	NOVA1	exon_skip_164327	4.333097e-01	9.235339e-05
TC	NUP42	exon_skip_98817	6.017595e-01	9.737960e-17
TC	NOVA1	exon_skip_98817	6.169266e-01	9.878479e-18

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RelatedDrugs for CAMKK2

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

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
Q96RR4	approved\|investigational	DB12010	Fostamatinib	small molecule	Q96RR4

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RelatedDiseases for CAMKK2

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 CAMKK2

Gene structures and expression levels for CAMKK2

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CAMKK2

Open reading frame (ORF) annotation in the exon skipping event for CAMKK2

Infer the effects of exon skipping event on protein functional features for CAMKK2

3'-UTR located exon skipping events that lost miRNA binding sites in CAMKK2

SNVs in the skipped exons for CAMKK2

AD stage-associated exon skippint events for CAMKK2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CAMKK2

Correlation with RNA binding proteins (RBPs) for CAMKK2

RelatedDrugs for CAMKK2

RelatedDiseases for CAMKK2