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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for CHEK1 |
 Gene summary |
| Gene information | Gene symbol | CHEK1 | Gene ID | 1111 |
| Gene name | checkpoint kinase 1 | |
| Synonyms | CHK1 | |
| Cytomap | 11q24.2 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein kinase Chk1CHK1 checkpoint homologCheckpoint, S. pombe, homolog of, 1Chk1-Scell cycle checkpoint kinase | |
| Modification date | 20200313 | |
| UniProtAcc | A0A087WT52, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| CHEK1 | GO:0000077 | DNA damage checkpoint | 16963448 |
| CHEK1 | GO:0006915 | apoptotic process | 23028632 |
| CHEK1 | GO:0006975 | DNA damage induced protein phosphorylation | 16963448 |
| CHEK1 | GO:0010569 | regulation of double-strand break repair via homologous recombination | 15665856 |
| CHEK1 | GO:0018107 | peptidyl-threonine phosphorylation | 15665856 |
| CHEK1 | GO:0045787 | positive regulation of cell cycle | 26296656 |
| CHEK1 | GO:0045839 | negative regulation of mitotic nuclear division | 15311285 |
| CHEK1 | GO:0046602 | regulation of mitotic centrosome separation | 15311285 |
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Gene structures and expression levels for CHEK1 |
| 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. |
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ENSG00000149554
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000531062.2 | CHEK1-209:retained_intron:CHEK1 | 1.241278e+00 | 1.530712e+00 | 6.081328e-06 | 6.914861e-05 |
| TC | UP | ENST00000532449.6 | CHEK1-211:protein_coding:CHEK1 | 5.620097e+00 | 9.463673e-01 | 6.592303e-03 | 4.114200e-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 CHEK1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_135828 | chr11 | 125655225:125655347:125656206:125656335:125675928:125676041 | 125656206:125656335 |
| exon_skip_19512 | chr11 | 125644512:125644643:125653746:125653847:125655225:125655506 | 125653746:125653847 |
| exon_skip_19839 | chr11 | 125635429:125635533:125637449:125637544:125643792:125643900 | 125637449:125637544 |
| exon_skip_80926 | chr11 | 125626749:125626833:125627607:125627830:125629232:125629296 | 125627607:125627830 |
| 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 CHEK1 |
| 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 |
| ENST00000524737 | 125656206 | 125656335 | 5CDS-3UTR |
| ENST00000428830 | 125627607 | 125627830 | Frame-shift |
| ENST00000438015 | 125627607 | 125627830 | Frame-shift |
| ENST00000524737 | 125627607 | 125627830 | Frame-shift |
| ENST00000534070 | 125627607 | 125627830 | Frame-shift |
| ENST00000428830 | 125653746 | 125653847 | In-frame |
| ENST00000438015 | 125653746 | 125653847 | In-frame |
| ENST00000524737 | 125653746 | 125653847 | In-frame |
| ENST00000534070 | 125653746 | 125653847 | 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 |
| 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 |
| ENST00000524737 | 125656206 | 125656335 | 5CDS-3UTR |
| ENST00000428830 | 125627607 | 125627830 | Frame-shift |
| ENST00000438015 | 125627607 | 125627830 | Frame-shift |
| ENST00000524737 | 125627607 | 125627830 | Frame-shift |
| ENST00000534070 | 125627607 | 125627830 | Frame-shift |
| ENST00000428830 | 125637449 | 125637544 | In-frame |
| ENST00000438015 | 125637449 | 125637544 | In-frame |
| ENST00000524737 | 125637449 | 125637544 | In-frame |
| ENST00000534070 | 125637449 | 125637544 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CHEK1 |
p-ENSG00000149554_img4.png |
| 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 |
| ENST00000428830 | 1862 | 476 | 125653746 | 125653847 | 1294 | 1394 | 411 | 445 |
| ENST00000438015 | 4170 | 476 | 125653746 | 125653847 | 2132 | 2232 | 411 | 445 |
| ENST00000524737 | 1816 | 476 | 125653746 | 125653847 | 1446 | 1546 | 411 | 445 |
| ENST00000534070 | 3530 | 476 | 125653746 | 125653847 | 1490 | 1590 | 411 | 445 |
| 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 |
| 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 |
| ENST00000428830 | 1862 | 476 | 125637449 | 125637544 | 779 | 873 | 240 | 271 |
| ENST00000438015 | 4170 | 476 | 125637449 | 125637544 | 1617 | 1711 | 240 | 271 |
| ENST00000524737 | 1816 | 476 | 125637449 | 125637544 | 931 | 1025 | 240 | 271 |
| ENST00000534070 | 3530 | 476 | 125637449 | 125637544 | 975 | 1069 | 240 | 271 |
| 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 |
| O14757 | 411 | 445 | 412 | 445 | Alternative sequence | ID=VSP_045075;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O14757 | 411 | 445 | 412 | 445 | Alternative sequence | ID=VSP_045075;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O14757 | 411 | 445 | 412 | 445 | Alternative sequence | ID=VSP_045075;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O14757 | 411 | 445 | 412 | 445 | Alternative sequence | ID=VSP_045075;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| O14757 | 411 | 445 | 403 | 417 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WI2 |
| O14757 | 411 | 445 | 403 | 417 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WI2 |
| O14757 | 411 | 445 | 403 | 417 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WI2 |
| O14757 | 411 | 445 | 403 | 417 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WI2 |
| O14757 | 411 | 445 | 423 | 432 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WI2 |
| O14757 | 411 | 445 | 423 | 432 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WI2 |
| O14757 | 411 | 445 | 423 | 432 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WI2 |
| O14757 | 411 | 445 | 423 | 432 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WI2 |
| O14757 | 411 | 445 | 434 | 446 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WI2 |
| O14757 | 411 | 445 | 434 | 446 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WI2 |
| O14757 | 411 | 445 | 434 | 446 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WI2 |
| O14757 | 411 | 445 | 434 | 446 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WI2 |
| O14757 | 411 | 445 | 1 | 476 | Chain | ID=PRO_0000085848;Note=Serine/threonine-protein kinase Chk1 |
| O14757 | 411 | 445 | 1 | 476 | Chain | ID=PRO_0000085848;Note=Serine/threonine-protein kinase Chk1 |
| O14757 | 411 | 445 | 1 | 476 | Chain | ID=PRO_0000085848;Note=Serine/threonine-protein kinase Chk1 |
| O14757 | 411 | 445 | 1 | 476 | Chain | ID=PRO_0000085848;Note=Serine/threonine-protein kinase Chk1 |
| O14757 | 411 | 445 | 436 | 436 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19716789;Dbxref=PMID:19716789 |
| O14757 | 411 | 445 | 436 | 436 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19716789;Dbxref=PMID:19716789 |
| O14757 | 411 | 445 | 436 | 436 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19716789;Dbxref=PMID:19716789 |
| O14757 | 411 | 445 | 436 | 436 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19716789;Dbxref=PMID:19716789 |
| O14757 | 411 | 445 | 436 | 436 | Mutagenesis | Note=Enhances stability of the protein%2C probably by preventing ubiquitination at this site. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19716789;Dbxref=PMID:19716789 |
| O14757 | 411 | 445 | 436 | 436 | Mutagenesis | Note=Enhances stability of the protein%2C probably by preventing ubiquitination at this site. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19716789;Dbxref=PMID:19716789 |
| O14757 | 411 | 445 | 436 | 436 | Mutagenesis | Note=Enhances stability of the protein%2C probably by preventing ubiquitination at this site. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19716789;Dbxref=PMID:19716789 |
| O14757 | 411 | 445 | 436 | 436 | Mutagenesis | Note=Enhances stability of the protein%2C probably by preventing ubiquitination at this site. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19716789;Dbxref=PMID:19716789 |
| O14757 | 411 | 445 | 391 | 476 | Region | Note=Autoinhibitory region |
| O14757 | 411 | 445 | 391 | 476 | Region | Note=Autoinhibitory region |
| O14757 | 411 | 445 | 391 | 476 | Region | Note=Autoinhibitory region |
| O14757 | 411 | 445 | 391 | 476 | Region | Note=Autoinhibitory region |
| 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 |
| 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 |
| O14757 | 240 | 271 | 1 | 476 | Chain | ID=PRO_0000085848;Note=Serine/threonine-protein kinase Chk1 |
| O14757 | 240 | 271 | 1 | 476 | Chain | ID=PRO_0000085848;Note=Serine/threonine-protein kinase Chk1 |
| O14757 | 240 | 271 | 1 | 476 | Chain | ID=PRO_0000085848;Note=Serine/threonine-protein kinase Chk1 |
| O14757 | 240 | 271 | 1 | 476 | Chain | ID=PRO_0000085848;Note=Serine/threonine-protein kinase Chk1 |
| O14757 | 240 | 271 | 9 | 265 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| O14757 | 240 | 271 | 9 | 265 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| O14757 | 240 | 271 | 9 | 265 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| O14757 | 240 | 271 | 9 | 265 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| O14757 | 240 | 271 | 236 | 245 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YEX |
| O14757 | 240 | 271 | 236 | 245 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YEX |
| O14757 | 240 | 271 | 236 | 245 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YEX |
| O14757 | 240 | 271 | 236 | 245 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YEX |
| O14757 | 240 | 271 | 256 | 259 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YEX |
| O14757 | 240 | 271 | 256 | 259 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YEX |
| O14757 | 240 | 271 | 256 | 259 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YEX |
| O14757 | 240 | 271 | 256 | 259 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YEX |
| O14757 | 240 | 271 | 1 | 265 | Region | Note=Interaction with CLSPN;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O14757 | 240 | 271 | 1 | 265 | Region | Note=Interaction with CLSPN;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O14757 | 240 | 271 | 1 | 265 | Region | Note=Interaction with CLSPN;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O14757 | 240 | 271 | 1 | 265 | Region | Note=Interaction with CLSPN;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O14757 | 240 | 271 | 250 | 252 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YEX |
| O14757 | 240 | 271 | 250 | 252 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YEX |
| O14757 | 240 | 271 | 250 | 252 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YEX |
| O14757 | 240 | 271 | 250 | 252 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YEX |
| O14757 | 240 | 271 | 263 | 266 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YEX |
| O14757 | 240 | 271 | 263 | 266 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YEX |
| O14757 | 240 | 271 | 263 | 266 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YEX |
| O14757 | 240 | 271 | 263 | 266 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YEX |
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3'-UTR located exon skipping events that lost miRNA binding sites in CHEK1 |
| 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 CHEK1 |
| - 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 CHEK1 |
| 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 CHEK1 |
| 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 CHEK1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CHEK1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| O14757 | approved|investigational | DB12010 | Fostamatinib | small molecule | O14757 |
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RelatedDiseases for CHEK1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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