ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for CHEK2

Gene summary

Gene information	Gene symbol	CHEK2
	Gene ID	11200
	Gene name	checkpoint kinase 2
	Synonyms	CDS1\|CHK2\|HuCds1\|LFS2\|PP1425\|RAD53\|hCds1
	Cytomap	22q12.1
	Type of gene	protein-coding
	Description	serine/threonine-protein kinase Chk2CHK2 checkpoint homologcds1 homologcheckpoint-like protein CHK2
	Modification date	20200320
	UniProtAcc	A0A087X102, A0A3B3ITA7, A0A4P8PR71, A0A4V1ES41, B7ZBF2, B7ZBF6, B7ZBF7, B7ZBF8, C9JFD7, F8WCV2, H0Y4V6, H0Y820, H7BZ30, H7C0V7,
	Context

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

Gene	GO ID	GO term	PubMed ID
CHEK2	GO:0006355	regulation of transcription, DNA-templated	12717439
CHEK2	GO:0006468	protein phosphorylation	12717439
CHEK2	GO:0006974	cellular response to DNA damage stimulus	24550317
CHEK2	GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	12402044
CHEK2	GO:0042770	signal transduction in response to DNA damage	14744935
CHEK2	GO:0045893	positive regulation of transcription, DNA-templated	17101782
CHEK2	GO:0046777	protein autophosphorylation	16794575\|18644861
CHEK2	GO:0050821	protein stabilization	12717439

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Gene structures and expression levels for CHEK2

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.

ENSG00000183765

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

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 CHEK2

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_131374	chr22	28695710:28695873:28696901:28696987:28699838:28699937	28696901:28696987
exon_skip_165353	chr22	28725243:28725367:28730420:28730548:28734403:28734721	28730420:28730548
exon_skip_171120	chr22	28719395:28719485:28721518:28721631:28724977:28725124	28721518:28721631
exon_skip_190720	chr22	28699838:28699937:28703505:28703566:28710006:28710059	28703505:28703566
exon_skip_190796	chr22	28725243:28725367:28730420:28730548:28734403:28734727	28730420:28730548
exon_skip_193569	chr22	28725243:28725367:28734403:28734727:28741769:28741811	28734403:28734727
exon_skip_194791	chr22	28711909:28712017:28724977:28725124:28725243:28725248	28724977:28725124
exon_skip_280828	chr22	28711909:28712017:28724886:28724923:28725243:28725248	28724886:28724923
exon_skip_39705	chr22	28725243:28725367:28730456:28730548:28734403:28734721	28730456:28730548
exon_skip_50569	chr22	28725243:28725367:28734403:28734727:28741769:28741783	28734403:28734727
exon_skip_94992	chr22	28711909:28712017:28719395:28719485:28724977:28725124	28719395:28719485

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 CHEK2

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
ENST00000404276	28703505	28703566	Frame-shift
ENST00000405598	28703505	28703566	Frame-shift
ENST00000404276	28719395	28719485	Frame-shift
ENST00000405598	28719395	28719485	Frame-shift
ENST00000404276	28696901	28696987	In-frame
ENST00000405598	28696901	28696987	In-frame
ENST00000404276	28734403	28734727	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
ENST00000404276	28703505	28703566	Frame-shift
ENST00000405598	28703505	28703566	Frame-shift
ENST00000404276	28696901	28696987	In-frame
ENST00000405598	28696901	28696987	In-frame
ENST00000404276	28734403	28734727	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
ENST00000404276	28703505	28703566	Frame-shift
ENST00000405598	28703505	28703566	Frame-shift
ENST00000404276	28719395	28719485	Frame-shift
ENST00000405598	28719395	28719485	Frame-shift
ENST00000404276	28696901	28696987	In-frame
ENST00000405598	28696901	28696987	In-frame
ENST00000404276	28734403	28734727	In-frame

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Infer the effects of exon skipping event on protein functional features for CHEK2

p-ENSG00000183765_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
ENST00000404276	1802	543	28734403	28734727	1	318	0	106
ENST00000404276	1802	543	28696901	28696987	1009	1094	336	364
ENST00000405598	1976	543	28696901	28696987	1201	1286	336	364

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
ENST00000404276	1802	543	28734403	28734727	1	318	0	106
ENST00000404276	1802	543	28696901	28696987	1009	1094	336	364
ENST00000405598	1976	543	28696901	28696987	1201	1286	336	364

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
ENST00000404276	1802	543	28734403	28734727	1	318	0	106
ENST00000404276	1802	543	28696901	28696987	1009	1094	336	364
ENST00000405598	1976	543	28696901	28696987	1201	1286	336	364

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
O96017	0	106	1	221	Alternative sequence	ID=VSP_045148;Note=In isoform 13. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15498874;Dbxref=PMID:15498874
O96017	0	106	75	392	Alternative sequence	ID=VSP_014556;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	0	106	94	98	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GXC
O96017	0	106	100	103	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3I6U
O96017	0	106	106	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GXC
O96017	0	106	1	543	Chain	ID=PRO_0000085858;Note=Serine/threonine-protein kinase Chk2
O96017	0	106	62	62	Modified residue	Note=Phosphoserine%3B by PLK3;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16481012;Dbxref=PMID:16481012
O96017	0	106	68	68	Modified residue	Note=Phosphothreonine%3B by ATM and MAP3K20;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10973490,ECO:0000269\|PubMed:15342622,ECO:0000269\|PubMed:16311512,ECO:0000269\|PubMed:16481012;Dbxref=PMID:10973490,PMID:15
O96017	0	106	73	73	Modified residue	Note=Phosphoserine%3B by PLK3;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16481012;Dbxref=PMID:16481012
O96017	0	106	68	68	Mutagenesis	Note=Loss of activation and phosphorylation. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11901158,ECO:0000269\|PubMed:15342622;Dbxref=PMID:11901158,PMID:15342622
O96017	0	106	73	73	Mutagenesis	Note=Impaired activation%2C phosphorylation by ATM and G2/M transition checkpoint. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16481012;Dbxref=PMID:16481012
O96017	0	106	17	17	Natural variant	ID=VAR_019101;Note=In an osteogenic sarcoma sample%3B somatic mutation%3B might influence susceptibility to breast cancer%3B does not cause protein abrogation in familial colorectal cancer. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:117469
O96017	0	106	59	59	Natural variant	ID=VAR_026630;Note=In multiple cancers. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12052256;Dbxref=dbSNP:rs149991239,PMID:12052256
O96017	0	106	64	64	Natural variant	ID=VAR_019107;Note=In prostate cancer%3B somatic mutation. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12533788;Dbxref=dbSNP:rs141568342,PMID:12533788
O96017	0	106	85	85	Natural variant	ID=VAR_019102;Note=In an osteogenic sarcoma sample%3B neutral allele among Ashkenazi Jewish women. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11746983,ECO:0000269\|PubMed:15649950,ECO:0000269\|Ref.10;Dbxref=dbSNP:rs17
O96017	336	364	347	347	Active site	Note=Proton acceptor
O96017	336	364	347	347	Active site	Note=Proton acceptor
O96017	336	364	75	392	Alternative sequence	ID=VSP_014556;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	75	392	Alternative sequence	ID=VSP_014556;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	107	487	Alternative sequence	ID=VSP_014559;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	107	487	Alternative sequence	ID=VSP_014559;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	148	543	Alternative sequence	ID=VSP_014561;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	148	543	Alternative sequence	ID=VSP_014561;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	166	543	Alternative sequence	ID=VSP_014563;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	166	543	Alternative sequence	ID=VSP_014563;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	204	543	Alternative sequence	ID=VSP_014566;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	204	543	Alternative sequence	ID=VSP_014566;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	235	543	Alternative sequence	ID=VSP_014568;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10097108,ECO:0000303\|PubMed:15361853;Dbxref=PMID:10097108,PMID:15361853
O96017	336	364	235	543	Alternative sequence	ID=VSP_014568;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10097108,ECO:0000303\|PubMed:15361853;Dbxref=PMID:10097108,PMID:15361853
O96017	336	364	290	543	Alternative sequence	ID=VSP_014570;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	290	543	Alternative sequence	ID=VSP_014570;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	337	365	Alternative sequence	ID=VSP_014571;Note=In isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15361853,ECO:0000303\|Ref.7;Dbxref=PMID:15361853
O96017	336	364	337	365	Alternative sequence	ID=VSP_014571;Note=In isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15361853,ECO:0000303\|Ref.7;Dbxref=PMID:15361853
O96017	336	364	337	339	Alternative sequence	ID=VSP_014572;Note=In isoform 7. YLH->MKT;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	337	339	Alternative sequence	ID=VSP_014572;Note=In isoform 7. YLH->MKT;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	340	543	Alternative sequence	ID=VSP_014573;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	340	543	Alternative sequence	ID=VSP_014573;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	353	361	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	353	361	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	364	366	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	364	366	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	1	543	Chain	ID=PRO_0000085858;Note=Serine/threonine-protein kinase Chk2
O96017	336	364	1	543	Chain	ID=PRO_0000085858;Note=Serine/threonine-protein kinase Chk2
O96017	336	364	220	486	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O96017	336	364	220	486	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O96017	336	364	321	340	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	321	340	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	350	352	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	350	352	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	347	347	Mutagenesis	Note=Loss of kinase activity and of the ability to phosphorylate CDC25A. D->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11298456,ECO:0000269\|PubMed:9836640;Dbxref=PMID:11298456,PMID:9836640
O96017	336	364	347	347	Mutagenesis	Note=Loss of kinase activity and of the ability to phosphorylate CDC25A. D->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11298456,ECO:0000269\|PubMed:9836640;Dbxref=PMID:11298456,PMID:9836640
O96017	336	364	347	347	Natural variant	ID=VAR_029154;Note=D->N;Dbxref=dbSNP:rs28909980
O96017	336	364	347	347	Natural variant	ID=VAR_029154;Note=D->N;Dbxref=dbSNP:rs28909980
O96017	336	364	351	352	Nucleotide binding	Note=ATP
O96017	336	364	351	352	Nucleotide binding	Note=ATP

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
O96017	0	106	1	221	Alternative sequence	ID=VSP_045148;Note=In isoform 13. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15498874;Dbxref=PMID:15498874
O96017	0	106	75	392	Alternative sequence	ID=VSP_014556;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	0	106	94	98	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GXC
O96017	0	106	100	103	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3I6U
O96017	0	106	106	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GXC
O96017	0	106	1	543	Chain	ID=PRO_0000085858;Note=Serine/threonine-protein kinase Chk2
O96017	0	106	62	62	Modified residue	Note=Phosphoserine%3B by PLK3;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16481012;Dbxref=PMID:16481012
O96017	0	106	68	68	Modified residue	Note=Phosphothreonine%3B by ATM and MAP3K20;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10973490,ECO:0000269\|PubMed:15342622,ECO:0000269\|PubMed:16311512,ECO:0000269\|PubMed:16481012;Dbxref=PMID:10973490,PMID:15
O96017	0	106	73	73	Modified residue	Note=Phosphoserine%3B by PLK3;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16481012;Dbxref=PMID:16481012
O96017	0	106	68	68	Mutagenesis	Note=Loss of activation and phosphorylation. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11901158,ECO:0000269\|PubMed:15342622;Dbxref=PMID:11901158,PMID:15342622
O96017	0	106	73	73	Mutagenesis	Note=Impaired activation%2C phosphorylation by ATM and G2/M transition checkpoint. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16481012;Dbxref=PMID:16481012
O96017	0	106	17	17	Natural variant	ID=VAR_019101;Note=In an osteogenic sarcoma sample%3B somatic mutation%3B might influence susceptibility to breast cancer%3B does not cause protein abrogation in familial colorectal cancer. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:117469
O96017	0	106	59	59	Natural variant	ID=VAR_026630;Note=In multiple cancers. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12052256;Dbxref=dbSNP:rs149991239,PMID:12052256
O96017	0	106	64	64	Natural variant	ID=VAR_019107;Note=In prostate cancer%3B somatic mutation. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12533788;Dbxref=dbSNP:rs141568342,PMID:12533788
O96017	0	106	85	85	Natural variant	ID=VAR_019102;Note=In an osteogenic sarcoma sample%3B neutral allele among Ashkenazi Jewish women. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11746983,ECO:0000269\|PubMed:15649950,ECO:0000269\|Ref.10;Dbxref=dbSNP:rs17
O96017	336	364	347	347	Active site	Note=Proton acceptor
O96017	336	364	347	347	Active site	Note=Proton acceptor
O96017	336	364	75	392	Alternative sequence	ID=VSP_014556;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	75	392	Alternative sequence	ID=VSP_014556;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	107	487	Alternative sequence	ID=VSP_014559;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	107	487	Alternative sequence	ID=VSP_014559;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	148	543	Alternative sequence	ID=VSP_014561;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	148	543	Alternative sequence	ID=VSP_014561;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	166	543	Alternative sequence	ID=VSP_014563;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	166	543	Alternative sequence	ID=VSP_014563;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	204	543	Alternative sequence	ID=VSP_014566;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	204	543	Alternative sequence	ID=VSP_014566;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	235	543	Alternative sequence	ID=VSP_014568;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10097108,ECO:0000303\|PubMed:15361853;Dbxref=PMID:10097108,PMID:15361853
O96017	336	364	235	543	Alternative sequence	ID=VSP_014568;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10097108,ECO:0000303\|PubMed:15361853;Dbxref=PMID:10097108,PMID:15361853
O96017	336	364	290	543	Alternative sequence	ID=VSP_014570;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	290	543	Alternative sequence	ID=VSP_014570;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	337	365	Alternative sequence	ID=VSP_014571;Note=In isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15361853,ECO:0000303\|Ref.7;Dbxref=PMID:15361853
O96017	336	364	337	365	Alternative sequence	ID=VSP_014571;Note=In isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15361853,ECO:0000303\|Ref.7;Dbxref=PMID:15361853
O96017	336	364	337	339	Alternative sequence	ID=VSP_014572;Note=In isoform 7. YLH->MKT;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	337	339	Alternative sequence	ID=VSP_014572;Note=In isoform 7. YLH->MKT;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	340	543	Alternative sequence	ID=VSP_014573;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	340	543	Alternative sequence	ID=VSP_014573;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	353	361	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	353	361	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	364	366	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	364	366	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	1	543	Chain	ID=PRO_0000085858;Note=Serine/threonine-protein kinase Chk2
O96017	336	364	1	543	Chain	ID=PRO_0000085858;Note=Serine/threonine-protein kinase Chk2
O96017	336	364	220	486	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O96017	336	364	220	486	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O96017	336	364	321	340	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	321	340	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	350	352	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	350	352	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	347	347	Mutagenesis	Note=Loss of kinase activity and of the ability to phosphorylate CDC25A. D->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11298456,ECO:0000269\|PubMed:9836640;Dbxref=PMID:11298456,PMID:9836640
O96017	336	364	347	347	Mutagenesis	Note=Loss of kinase activity and of the ability to phosphorylate CDC25A. D->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11298456,ECO:0000269\|PubMed:9836640;Dbxref=PMID:11298456,PMID:9836640
O96017	336	364	347	347	Natural variant	ID=VAR_029154;Note=D->N;Dbxref=dbSNP:rs28909980
O96017	336	364	347	347	Natural variant	ID=VAR_029154;Note=D->N;Dbxref=dbSNP:rs28909980
O96017	336	364	351	352	Nucleotide binding	Note=ATP
O96017	336	364	351	352	Nucleotide binding	Note=ATP

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
O96017	0	106	1	221	Alternative sequence	ID=VSP_045148;Note=In isoform 13. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15498874;Dbxref=PMID:15498874
O96017	0	106	75	392	Alternative sequence	ID=VSP_014556;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	0	106	94	98	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GXC
O96017	0	106	100	103	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3I6U
O96017	0	106	106	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GXC
O96017	0	106	1	543	Chain	ID=PRO_0000085858;Note=Serine/threonine-protein kinase Chk2
O96017	0	106	62	62	Modified residue	Note=Phosphoserine%3B by PLK3;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16481012;Dbxref=PMID:16481012
O96017	0	106	68	68	Modified residue	Note=Phosphothreonine%3B by ATM and MAP3K20;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10973490,ECO:0000269\|PubMed:15342622,ECO:0000269\|PubMed:16311512,ECO:0000269\|PubMed:16481012;Dbxref=PMID:10973490,PMID:15
O96017	0	106	73	73	Modified residue	Note=Phosphoserine%3B by PLK3;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16481012;Dbxref=PMID:16481012
O96017	0	106	68	68	Mutagenesis	Note=Loss of activation and phosphorylation. T->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11901158,ECO:0000269\|PubMed:15342622;Dbxref=PMID:11901158,PMID:15342622
O96017	0	106	73	73	Mutagenesis	Note=Impaired activation%2C phosphorylation by ATM and G2/M transition checkpoint. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16481012;Dbxref=PMID:16481012
O96017	0	106	17	17	Natural variant	ID=VAR_019101;Note=In an osteogenic sarcoma sample%3B somatic mutation%3B might influence susceptibility to breast cancer%3B does not cause protein abrogation in familial colorectal cancer. A->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:117469
O96017	0	106	59	59	Natural variant	ID=VAR_026630;Note=In multiple cancers. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12052256;Dbxref=dbSNP:rs149991239,PMID:12052256
O96017	0	106	64	64	Natural variant	ID=VAR_019107;Note=In prostate cancer%3B somatic mutation. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12533788;Dbxref=dbSNP:rs141568342,PMID:12533788
O96017	0	106	85	85	Natural variant	ID=VAR_019102;Note=In an osteogenic sarcoma sample%3B neutral allele among Ashkenazi Jewish women. P->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11746983,ECO:0000269\|PubMed:15649950,ECO:0000269\|Ref.10;Dbxref=dbSNP:rs17
O96017	336	364	347	347	Active site	Note=Proton acceptor
O96017	336	364	347	347	Active site	Note=Proton acceptor
O96017	336	364	75	392	Alternative sequence	ID=VSP_014556;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	75	392	Alternative sequence	ID=VSP_014556;Note=In isoform 11. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	107	487	Alternative sequence	ID=VSP_014559;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	107	487	Alternative sequence	ID=VSP_014559;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	148	543	Alternative sequence	ID=VSP_014561;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	148	543	Alternative sequence	ID=VSP_014561;Note=In isoform 10. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	166	543	Alternative sequence	ID=VSP_014563;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	166	543	Alternative sequence	ID=VSP_014563;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	204	543	Alternative sequence	ID=VSP_014566;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	204	543	Alternative sequence	ID=VSP_014566;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	235	543	Alternative sequence	ID=VSP_014568;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10097108,ECO:0000303\|PubMed:15361853;Dbxref=PMID:10097108,PMID:15361853
O96017	336	364	235	543	Alternative sequence	ID=VSP_014568;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10097108,ECO:0000303\|PubMed:15361853;Dbxref=PMID:10097108,PMID:15361853
O96017	336	364	290	543	Alternative sequence	ID=VSP_014570;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	290	543	Alternative sequence	ID=VSP_014570;Note=In isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	337	365	Alternative sequence	ID=VSP_014571;Note=In isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15361853,ECO:0000303\|Ref.7;Dbxref=PMID:15361853
O96017	336	364	337	365	Alternative sequence	ID=VSP_014571;Note=In isoform 12. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:15361853,ECO:0000303\|Ref.7;Dbxref=PMID:15361853
O96017	336	364	337	339	Alternative sequence	ID=VSP_014572;Note=In isoform 7. YLH->MKT;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	337	339	Alternative sequence	ID=VSP_014572;Note=In isoform 7. YLH->MKT;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	340	543	Alternative sequence	ID=VSP_014573;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	340	543	Alternative sequence	ID=VSP_014573;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:15361853;Dbxref=PMID:15361853
O96017	336	364	353	361	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	353	361	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	364	366	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	364	366	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	1	543	Chain	ID=PRO_0000085858;Note=Serine/threonine-protein kinase Chk2
O96017	336	364	1	543	Chain	ID=PRO_0000085858;Note=Serine/threonine-protein kinase Chk2
O96017	336	364	220	486	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O96017	336	364	220	486	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
O96017	336	364	321	340	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	321	340	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	350	352	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	350	352	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2YCF
O96017	336	364	347	347	Mutagenesis	Note=Loss of kinase activity and of the ability to phosphorylate CDC25A. D->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11298456,ECO:0000269\|PubMed:9836640;Dbxref=PMID:11298456,PMID:9836640
O96017	336	364	347	347	Mutagenesis	Note=Loss of kinase activity and of the ability to phosphorylate CDC25A. D->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11298456,ECO:0000269\|PubMed:9836640;Dbxref=PMID:11298456,PMID:9836640
O96017	336	364	347	347	Natural variant	ID=VAR_029154;Note=D->N;Dbxref=dbSNP:rs28909980
O96017	336	364	347	347	Natural variant	ID=VAR_029154;Note=D->N;Dbxref=dbSNP:rs28909980
O96017	336	364	351	352	Nucleotide binding	Note=ATP
O96017	336	364	351	352	Nucleotide binding	Note=ATP

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3'-UTR located exon skipping events that lost miRNA binding sites in CHEK2

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 CHEK2

- 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 CHEK2

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 CHEK2

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 CHEK2

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

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RelatedDrugs for CHEK2

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

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for CHEK2

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 CHEK2

Gene structures and expression levels for CHEK2

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CHEK2

Open reading frame (ORF) annotation in the exon skipping event for CHEK2

Infer the effects of exon skipping event on protein functional features for CHEK2

3'-UTR located exon skipping events that lost miRNA binding sites in CHEK2

SNVs in the skipped exons for CHEK2

AD stage-associated exon skippint events for CHEK2

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CHEK2

Correlation with RNA binding proteins (RBPs) for CHEK2

RelatedDrugs for CHEK2

RelatedDiseases for CHEK2