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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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 | 20180527 | |
| UniProtAcc | O96017 | |
| Context | PubMed: CHEK2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for CHEK2 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for CHEK2 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CHEK2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_368197 | 22 | 29085122:29085203:29090019:29090105:29091114:29091197 | 29090019:29090105 | ENSG00000183765.16 | ENST00000382580.2,ENST00000348295.3,ENST00000416671.1,ENST00000417588.1,ENST00000328354.6,ENST00000433728.1,ENST00000402731.1,ENST00000382578.1,ENST00000448511.1,ENST00000403642.1,ENST00000405598.1,ENST00000382566.1,ENST00000544772.1,ENST00000434810.1,ENS |
| exon_skip_368199 | 22 | 29091114:29091230:29091697:29091861:29092888:29092975 | 29091697:29091861 | ENSG00000183765.16 | ENST00000382580.2,ENST00000416671.1,ENST00000417588.1,ENST00000328354.6,ENST00000433728.1,ENST00000382578.1,ENST00000448511.1,ENST00000403642.1,ENST00000405598.1,ENST00000382566.1,ENST00000544772.1,ENST00000404276.1 |
| exon_skip_368200 | 22 | 29091114:29091230:29091697:29091861:29095825:29095925 | 29091697:29091861 | ENSG00000183765.16 | ENST00000348295.3,ENST00000402731.1 |
| exon_skip_368202 | 22 | 29091697:29091861:29092888:29092975:29095825:29095925 | 29092888:29092975 | ENSG00000183765.16 | ENST00000382580.2,ENST00000416671.1,ENST00000417588.1,ENST00000328354.6,ENST00000433728.1,ENST00000382578.1,ENST00000448511.1,ENST00000403642.1,ENST00000405598.1,ENST00000382566.1,ENST00000544772.1,ENST00000434810.1,ENST00000404276.1 |
| exon_skip_368204 | 22 | 29095825:29095925:29099492:29099554:29105993:29106047 | 29099492:29099554 | ENSG00000183765.16 | ENST00000425190.2,ENST00000439346.1,ENST00000382580.2,ENST00000348295.3,ENST00000416671.1,ENST00000417588.1,ENST00000328354.6,ENST00000402731.1,ENST00000491919.1,ENST00000464581.1,ENST00000382578.1,ENST00000448511.1,ENST00000403642.1,ENST00000447421.1,ENS |
| exon_skip_368205 | 22 | 29095825:29095925:29105993:29106047:29107896:29107919 | 29105993:29106047 | ENSG00000183765.16 | ENST00000433728.1,ENST00000382566.1 |
| exon_skip_368212 | 22 | 29107896:29108005:29115382:29115473:29120873:29120911 | 29115382:29115473 | ENSG00000183765.16 | ENST00000448511.1 |
| exon_skip_368213 | 22 | 29107896:29108005:29115382:29115473:29120964:29121112 | 29115382:29115473 | ENSG00000183765.16 | ENST00000425190.2,ENST00000439200.1,ENST00000382580.2,ENST00000348295.3,ENST00000328354.6,ENST00000433728.1,ENST00000402731.1,ENST00000405598.1,ENST00000382566.1,ENST00000404276.1 |
| exon_skip_368216 | 22 | 29107896:29108005:29120873:29120911:29121230:29121236 | 29120873:29120911 | ENSG00000183765.16 | ENST00000447421.1 |
| exon_skip_368217 | 22 | 29107896:29108005:29120964:29121112:29121230:29121236 | 29120964:29121112 | ENSG00000183765.16 | ENST00000439346.1,ENST00000417588.1 |
| exon_skip_368222 | 22 | 29115382:29115473:29117505:29117619:29120964:29121112 | 29117505:29117619 | ENSG00000183765.16 | ENST00000416671.1,ENST00000544772.1 |
| exon_skip_368223 | 22 | 29115382:29115473:29120552:29120911:29121230:29121236 | 29120552:29120911 | ENSG00000183765.16 | ENST00000433028.2 |
| exon_skip_368225 | 22 | 29115382:29115473:29120964:29121112:29121230:29121236 | 29120964:29121112 | ENSG00000183765.16 | ENST00000425190.2,ENST00000439200.1,ENST00000382580.2,ENST00000348295.3,ENST00000328354.6,ENST00000433728.1,ENST00000402731.1,ENST00000405598.1,ENST00000382566.1,ENST00000404276.1 |
| exon_skip_368230 | 22 | 29121230:29121355:29126407:29126536:29130390:29130709 | 29126407:29126536 | ENSG00000183765.16 | ENST00000382580.2 |
| exon_skip_368232 | 22 | 29121230:29121355:29126443:29126536:29130390:29130709 | 29126443:29126536 | ENSG00000183765.16 | ENST00000439200.1 |
| exon_skip_368234 | 22 | 29121230:29121355:29130390:29130715:29137756:29137771 | 29130390:29130715 | ENSG00000183765.16 | ENST00000348295.3,ENST00000416671.1,ENST00000328354.6,ENST00000382566.1,ENST00000544772.1,ENST00000433028.2 |
| exon_skip_368236 | 22 | 29126443:29126536:29130390:29130715:29137756:29137771 | 29130390:29130715 | ENSG00000183765.16 | ENST00000439200.1,ENST00000382580.2 |
| exon_skip_368237 | 22 | 29130390:29130715:29133872:29134026:29137756:29137771 | 29133872:29134026 | ENSG00000183765.16 | ENST00000405598.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CHEK2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_368197 | 22 | 29085122:29085203:29090019:29090105:29091114:29091197 | 29090019:29090105 | ENSG00000183765.16 | ENST00000434810.1,ENST00000416671.1,ENST00000348295.3,ENST00000382578.1,ENST00000544772.1,ENST00000382566.1,ENST00000404276.1,ENST00000328354.6,ENST00000405598.1,ENST00000382580.2,ENST00000448511.1,ENST00000417588.1,ENST00000433728.1,ENST00000403642.1,ENS |
| exon_skip_368199 | 22 | 29091114:29091230:29091697:29091861:29092888:29092975 | 29091697:29091861 | ENSG00000183765.16 | ENST00000416671.1,ENST00000382578.1,ENST00000544772.1,ENST00000382566.1,ENST00000404276.1,ENST00000328354.6,ENST00000405598.1,ENST00000382580.2,ENST00000448511.1,ENST00000417588.1,ENST00000433728.1,ENST00000403642.1 |
| exon_skip_368200 | 22 | 29091114:29091230:29091697:29091861:29095825:29095925 | 29091697:29091861 | ENSG00000183765.16 | ENST00000348295.3,ENST00000402731.1 |
| exon_skip_368202 | 22 | 29091697:29091861:29092888:29092975:29095825:29095925 | 29092888:29092975 | ENSG00000183765.16 | ENST00000434810.1,ENST00000416671.1,ENST00000382578.1,ENST00000544772.1,ENST00000382566.1,ENST00000404276.1,ENST00000328354.6,ENST00000405598.1,ENST00000382580.2,ENST00000448511.1,ENST00000417588.1,ENST00000433728.1,ENST00000403642.1 |
| exon_skip_368204 | 22 | 29095825:29095925:29099492:29099554:29105993:29106047 | 29099492:29099554 | ENSG00000183765.16 | ENST00000434810.1,ENST00000456369.1,ENST00000416671.1,ENST00000348295.3,ENST00000382578.1,ENST00000544772.1,ENST00000404276.1,ENST00000328354.6,ENST00000405598.1,ENST00000382580.2,ENST00000448511.1,ENST00000417588.1,ENST00000403642.1,ENST00000402731.1,ENS |
| exon_skip_368205 | 22 | 29095825:29095925:29105993:29106047:29107896:29107919 | 29105993:29106047 | ENSG00000183765.16 | ENST00000382566.1,ENST00000433728.1 |
| exon_skip_368212 | 22 | 29107896:29108005:29115382:29115473:29120873:29120911 | 29115382:29115473 | ENSG00000183765.16 | ENST00000448511.1 |
| exon_skip_368213 | 22 | 29107896:29108005:29115382:29115473:29120964:29121112 | 29115382:29115473 | ENSG00000183765.16 | ENST00000348295.3,ENST00000382566.1,ENST00000404276.1,ENST00000328354.6,ENST00000405598.1,ENST00000382580.2,ENST00000433728.1,ENST00000402731.1,ENST00000425190.2,ENST00000439200.1 |
| exon_skip_368216 | 22 | 29107896:29108005:29120873:29120911:29121230:29121236 | 29120873:29120911 | ENSG00000183765.16 | ENST00000447421.1 |
| exon_skip_368217 | 22 | 29107896:29108005:29120964:29121112:29121230:29121236 | 29120964:29121112 | ENSG00000183765.16 | ENST00000417588.1,ENST00000439346.1 |
| exon_skip_368222 | 22 | 29115382:29115473:29117505:29117619:29120964:29121112 | 29117505:29117619 | ENSG00000183765.16 | ENST00000416671.1,ENST00000544772.1 |
| exon_skip_368223 | 22 | 29115382:29115473:29120552:29120911:29121230:29121236 | 29120552:29120911 | ENSG00000183765.16 | ENST00000433028.2 |
| exon_skip_368224 | 22 | 29115382:29115473:29120873:29120911:29121230:29121236 | 29120873:29120911 | ENSG00000183765.16 | ENST00000448511.1 |
| exon_skip_368225 | 22 | 29115382:29115473:29120964:29121112:29121230:29121236 | 29120964:29121112 | ENSG00000183765.16 | ENST00000348295.3,ENST00000382566.1,ENST00000404276.1,ENST00000328354.6,ENST00000405598.1,ENST00000382580.2,ENST00000433728.1,ENST00000402731.1,ENST00000425190.2,ENST00000439200.1 |
| exon_skip_368230 | 22 | 29121230:29121355:29126407:29126536:29130390:29130709 | 29126407:29126536 | ENSG00000183765.16 | ENST00000382580.2 |
| exon_skip_368232 | 22 | 29121230:29121355:29126443:29126536:29130390:29130709 | 29126443:29126536 | ENSG00000183765.16 | ENST00000439200.1 |
| exon_skip_368234 | 22 | 29121230:29121355:29130390:29130715:29137756:29137771 | 29130390:29130715 | ENSG00000183765.16 | ENST00000416671.1,ENST00000348295.3,ENST00000544772.1,ENST00000382566.1,ENST00000328354.6,ENST00000433028.2 |
| exon_skip_368236 | 22 | 29126443:29126536:29130390:29130715:29137756:29137771 | 29130390:29130715 | ENSG00000183765.16 | ENST00000382580.2,ENST00000439200.1 |
| exon_skip_368237 | 22 | 29130390:29130715:29133872:29134026:29137756:29137771 | 29133872:29134026 | ENSG00000183765.16 | ENST00000405598.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000328354 | 29130390 | 29130715 | 3UTR-3CDS |
| ENST00000405598 | 29133872 | 29134026 | 3UTR-3UTR |
| ENST00000328354 | 29090019 | 29090105 | Frame-shift |
| ENST00000404276 | 29090019 | 29090105 | Frame-shift |
| ENST00000405598 | 29090019 | 29090105 | Frame-shift |
| ENST00000328354 | 29091697 | 29091861 | Frame-shift |
| ENST00000404276 | 29091697 | 29091861 | Frame-shift |
| ENST00000405598 | 29091697 | 29091861 | Frame-shift |
| ENST00000328354 | 29099492 | 29099554 | Frame-shift |
| ENST00000404276 | 29099492 | 29099554 | Frame-shift |
| ENST00000405598 | 29099492 | 29099554 | Frame-shift |
| ENST00000328354 | 29115382 | 29115473 | Frame-shift |
| ENST00000404276 | 29115382 | 29115473 | Frame-shift |
| ENST00000405598 | 29115382 | 29115473 | Frame-shift |
| ENST00000328354 | 29120964 | 29121112 | Frame-shift |
| ENST00000404276 | 29120964 | 29121112 | Frame-shift |
| ENST00000405598 | 29120964 | 29121112 | Frame-shift |
| ENST00000328354 | 29092888 | 29092975 | In-frame |
| ENST00000404276 | 29092888 | 29092975 | In-frame |
| ENST00000405598 | 29092888 | 29092975 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000328354 | 29130390 | 29130715 | 3UTR-3CDS |
| ENST00000405598 | 29133872 | 29134026 | 3UTR-3UTR |
| ENST00000328354 | 29090019 | 29090105 | Frame-shift |
| ENST00000404276 | 29090019 | 29090105 | Frame-shift |
| ENST00000405598 | 29090019 | 29090105 | Frame-shift |
| ENST00000328354 | 29091697 | 29091861 | Frame-shift |
| ENST00000404276 | 29091697 | 29091861 | Frame-shift |
| ENST00000405598 | 29091697 | 29091861 | Frame-shift |
| ENST00000328354 | 29099492 | 29099554 | Frame-shift |
| ENST00000404276 | 29099492 | 29099554 | Frame-shift |
| ENST00000405598 | 29099492 | 29099554 | Frame-shift |
| ENST00000328354 | 29115382 | 29115473 | Frame-shift |
| ENST00000404276 | 29115382 | 29115473 | Frame-shift |
| ENST00000405598 | 29115382 | 29115473 | Frame-shift |
| ENST00000328354 | 29120964 | 29121112 | Frame-shift |
| ENST00000404276 | 29120964 | 29121112 | Frame-shift |
| ENST00000405598 | 29120964 | 29121112 | Frame-shift |
| ENST00000328354 | 29092888 | 29092975 | In-frame |
| ENST00000404276 | 29092888 | 29092975 | In-frame |
| ENST00000405598 | 29092888 | 29092975 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CHEK2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000328354 | 1884 | 543 | 29092888 | 29092975 | 1091 | 1177 | 336 | 365 |
| ENST00000404276 | 1802 | 543 | 29092888 | 29092975 | 1009 | 1095 | 336 | 365 |
| ENST00000405598 | 1976 | 543 | 29092888 | 29092975 | 1201 | 1287 | 336 | 365 |
| Loci of skipped exons in GTEx 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 |
| ENST00000328354 | 1884 | 543 | 29092888 | 29092975 | 1091 | 1177 | 336 | 365 |
| ENST00000404276 | 1802 | 543 | 29092888 | 29092975 | 1009 | 1095 | 336 | 365 |
| ENST00000405598 | 1976 | 543 | 29092888 | 29092975 | 1201 | 1287 | 336 | 365 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 GTEx. |
| 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 |
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SNVs in the skipped exons for CHEK2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
CHEK2_LIHC_exon_skip_368204_psi_boxplot.png |
CHEK2_LUSC_exon_skip_368202_psi_boxplot.png |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LUAD | TCGA-05-4420-01 | exon_skip_368197 | 29090020 | 29090105 | 29090083 | 29090083 | Frame_Shift_Del | C | - | p.L466fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_368200 exon_skip_368199 | 29091698 | 29091861 | 29091703 | 29091703 | Frame_Shift_Del | A | - | p.F197fs |
| STAD | TCGA-BR-8081-01 | exon_skip_368200 exon_skip_368199 | 29091698 | 29091861 | 29091778 | 29091778 | Frame_Shift_Del | A | - | p.E394fs |
| STAD | TCGA-BR-8081-01 | exon_skip_368200 exon_skip_368199 | 29091698 | 29091861 | 29091778 | 29091778 | Frame_Shift_Del | A | - | p.E437fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_368204 | 29099493 | 29099554 | 29099525 | 29099525 | Frame_Shift_Del | A | - | p.F71fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_368204 | 29099493 | 29099554 | 29099532 | 29099532 | Frame_Shift_Del | T | - | p.N69fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_368204 | 29099493 | 29099554 | 29099532 | 29099532 | Frame_Shift_Del | T | - | p.N333fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_368204 | 29099493 | 29099554 | 29099532 | 29099532 | Frame_Shift_Del | T | - | p.N69fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_368204 | 29099493 | 29099554 | 29099532 | 29099532 | Frame_Shift_Del | T | - | p.N69fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_368205 | 29105994 | 29106047 | 29106004 | 29106004 | Frame_Shift_Del | T | - | p.K58fs |
| LUAD | TCGA-86-8280-01 | exon_skip_368213 exon_skip_368212 | 29115383 | 29115473 | 29115444 | 29115444 | Frame_Shift_Del | C | - | p.D251fs |
| STAD | TCGA-CG-5726-01 | exon_skip_368213 exon_skip_368212 | 29115383 | 29115473 | 29115460 | 29115460 | Frame_Shift_Del | A | - | p.F202fs |
| BLCA | TCGA-DK-AA6P-01 | exon_skip_368234 exon_skip_368236 | 29130391 | 29130715 | 29130581 | 29130582 | Frame_Shift_Del | GG | - | p.T43fs |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_368204 | 29099493 | 29099554 | 29099498 | 29099499 | Frame_Shift_Ins | - | A | p.L301fs |
| UCEC | TCGA-AP-A0LG-01 | exon_skip_368213 exon_skip_368212 | 29115383 | 29115473 | 29115392 | 29115393 | Frame_Shift_Ins | - | T | p.T225fs |
| COAD | TCGA-D5-6928-01 | exon_skip_368217 exon_skip_368225 | 29120965 | 29121112 | 29121095 | 29121096 | Frame_Shift_Ins | - | T | p.N197fs |
| DLBC | TCGA-GS-A9TW-01 | exon_skip_368234 exon_skip_368236 | 29130391 | 29130715 | 29130418 | 29130419 | Frame_Shift_Ins | - | AT | p.A98fs |
| THYM | TCGA-ZB-A96V-01 | exon_skip_368197 | 29090020 | 29090105 | 29090049 | 29090049 | Nonsense_Mutation | C | A | p.E257* |
| THYM | TCGA-ZB-A96V-01 | exon_skip_368197 | 29090020 | 29090105 | 29090049 | 29090049 | Nonsense_Mutation | C | A | p.E521* |
| THYM | TCGA-ZB-A96V-01 | exon_skip_368197 | 29090020 | 29090105 | 29090049 | 29090049 | Nonsense_Mutation | C | A | p.E521X |
| THCA | TCGA-BJ-A3PT-01 | exon_skip_368200 exon_skip_368199 | 29091698 | 29091861 | 29091787 | 29091787 | Nonsense_Mutation | G | C | p.Y169* |
| THCA | TCGA-BJ-A3PT-01 | exon_skip_368200 exon_skip_368199 | 29091698 | 29091861 | 29091787 | 29091787 | Nonsense_Mutation | G | C | p.Y361X |
| BLCA | TCGA-FJ-A3Z7-01 | exon_skip_368202 | 29092889 | 29092975 | 29092917 | 29092917 | Nonsense_Mutation | G | T | p.S135* |
| BLCA | TCGA-FJ-A3Z7-01 | exon_skip_368202 | 29092889 | 29092975 | 29092917 | 29092917 | Nonsense_Mutation | G | T | p.S356* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_368205 | 29105994 | 29106047 | 29106017 | 29106017 | Nonsense_Mutation | C | A | p.E318* |
| UCEC | TCGA-B5-A11J-01 | exon_skip_368213 exon_skip_368212 | 29115383 | 29115473 | 29115437 | 29115437 | Nonsense_Mutation | G | T | p.S253* |
| DLBC | TCGA-GS-A9TW-01 | exon_skip_368234 exon_skip_368236 | 29130391 | 29130715 | 29130412 | 29130412 | Nonsense_Mutation | G | A | p.Q100X |
| ACC | TCGA-OR-A5LB-01 | exon_skip_368234 exon_skip_368236 | 29130391 | 29130715 | 29130427 | 29130427 | Nonsense_Mutation | G | A | p.R95* |
| ACC | TCGA-OR-A5LB-01 | exon_skip_368234 exon_skip_368236 | 29130391 | 29130715 | 29130427 | 29130427 | Nonsense_Mutation | G | A | p.R95X |
| LUSC | TCGA-21-5786-01 | exon_skip_368202 | 29092889 | 29092975 | 29092887 | 29092887 | Splice_Site | A | G | p.K365_splice |
| STAD | TCGA-BR-4257-01 | exon_skip_368217 exon_skip_368225 | 29120965 | 29121112 | 29120963 | 29120963 | Splice_Site | A | G | p.V198_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BR-4257-01 |
| Cancer type: STAD | |
| ESID: exon_skip_368225 | |
| Skipped exon start: 29120965 | |
| Skipped exon end: 29121112 | |
| Mutation start: 29120963 | |
| Mutation end: 29120963 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: G | |
| AAchange: p.V198_splice | |
exon_skip_139149_STAD_TCGA-BR-4257-01.png | |
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exon_skip_368225_STAD_TCGA-BR-4257-01.png | |
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exon_skip_94844_STAD_TCGA-BR-4257-01.png | |
 | Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_368204 | |
| Skipped exon start: 29099493 | |
| Skipped exon end: 29099554 | |
| Mutation start: 29099525 | |
| Mutation end: 29099525 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.F71fs | |
| Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_368204 | |
| Skipped exon start: 29099493 | |
| Skipped exon end: 29099554 | |
| Mutation start: 29099532 | |
| Mutation end: 29099532 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.N69fs | |
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 | Sample: TCGA-21-5786-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_368202 | |
| Skipped exon start: 29092889 | |
| Skipped exon end: 29092975 | |
| Mutation start: 29092887 | |
| Mutation end: 29092887 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: G | |
| AAchange: p.K365_splice | |
exon_skip_368202_LUSC_TCGA-21-5786-01.png | |
| - 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 |
| LOVO_LARGE_INTESTINE | 29091698 | 29091861 | 29091793 | 29091793 | Frame_Shift_Del | G | - | p.P388fs |
| MFE296_ENDOMETRIUM | 29099493 | 29099554 | 29099525 | 29099526 | Frame_Shift_Del | AA | - | p.F292fs |
| SKMEL28_SKIN | 29091698 | 29091861 | 29091777 | 29091777 | Missense_Mutation | C | T | p.E394K |
| LNCAPCLONEFGC_PROSTATE | 29091698 | 29091861 | 29091797 | 29091797 | Missense_Mutation | G | T | p.T387N |
| COLO320_LARGE_INTESTINE | 29091698 | 29091861 | 29091840 | 29091841 | Missense_Mutation | TG | CA | p.K373E |
| 2313287_STOMACH | 29092889 | 29092975 | 29092902 | 29092902 | Missense_Mutation | T | C | p.D361G |
| HCT116_LARGE_INTESTINE | 29092889 | 29092975 | 29092920 | 29092920 | Missense_Mutation | A | G | p.L355P |
| CHLA06ATRT_SOFT_TISSUE | 29092889 | 29092975 | 29092947 | 29092947 | Missense_Mutation | C | T | p.R346H |
| HT115_LARGE_INTESTINE | 29099493 | 29099554 | 29099532 | 29099532 | Missense_Mutation | T | G | p.N290T |
| RCCJF_KIDNEY | 29105994 | 29106047 | 29106003 | 29106003 | Missense_Mutation | C | A | p.K279N |
| TE9_OESOPHAGUS | 29115383 | 29115473 | 29115390 | 29115390 | Missense_Mutation | G | C | p.L226V |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29115383 | 29115473 | 29115390 | 29115390 | Missense_Mutation | G | A | p.L226F |
| GSS_STOMACH | 29115383 | 29115473 | 29115392 | 29115392 | Missense_Mutation | G | C | p.T225S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29115383 | 29115473 | 29115422 | 29115422 | Missense_Mutation | G | T | p.A215E |
| CESS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29120965 | 29121112 | 29120992 | 29120992 | Missense_Mutation | T | C | p.I189V |
| HEC251_ENDOMETRIUM | 29120965 | 29121112 | 29121003 | 29121003 | Missense_Mutation | T | G | p.N185T |
| SNU407_LARGE_INTESTINE | 29120965 | 29121112 | 29121018 | 29121018 | Missense_Mutation | C | T | p.R180H |
| JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29120965 | 29121112 | 29121033 | 29121033 | Missense_Mutation | A | G | p.V175A |
| SNUC5_LARGE_INTESTINE | 29120965 | 29121112 | 29121052 | 29121052 | Missense_Mutation | A | G | p.F169L |
| CCK81_LARGE_INTESTINE | 29120965 | 29121112 | 29121066 | 29121066 | Missense_Mutation | C | T | p.S164N |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29130391 | 29130715 | 29130439 | 29130439 | Missense_Mutation | C | T | p.A91T |
| OMC1_CERVIX | 29130391 | 29130715 | 29130454 | 29130454 | Missense_Mutation | C | G | p.E86Q |
| LS411N_LARGE_INTESTINE | 29130391 | 29130715 | 29130456 | 29130456 | Missense_Mutation | G | T | p.P85H |
| SNU81_LARGE_INTESTINE | 29130391 | 29130715 | 29130492 | 29130492 | Missense_Mutation | G | A | p.S73F |
| NCIH1963_LUNG | 29130391 | 29130715 | 29130556 | 29130556 | Missense_Mutation | A | G | p.S52P |
| HEC251_ENDOMETRIUM | 29105994 | 29106047 | 29106017 | 29106017 | Nonsense_Mutation | C | A | p.E275* |
| UACC812_BREAST | 29099493 | 29099554 | 29099493 | 29099493 | Splice_Site | A | T | p.L303* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CHEK2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_368223 | 22 | 29115382:29115473:29120552:29120911:29121230:29121236 | 29120552:29120911 | ENST00000433028.2 | KIRP | rs3788408 | chr22:29120797 | A/G | 1.31e-03 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CHEK2 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CHEK2 |
Top |
RelatedDrugs for CHEK2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| O96017 | DB12010 | Fostamatinib | Serine/threonine-protein kinase Chk2 | small molecule | approved|investigational |
Top |
RelatedDiseases for CHEK2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CHEK2 | C1836482 | Li-Fraumeni Syndrome 2 | 6 | CTD_human;UNIPROT |
| CHEK2 | C0376358 | Malignant neoplasm of prostate | 4 | UNIPROT |
| CHEK2 | C1458155 | Mammary Neoplasms | 4 | CTD_human |
| CHEK2 | C0085390 | Li-Fraumeni Syndrome | 2 | CTD_human;ORPHANET |
| CHEK2 | C0006142 | Malignant neoplasm of breast | 1 | UNIPROT |
| CHEK2 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| CHEK2 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| CHEK2 | C0024305 | Lymphoma, Non-Hodgkin | 1 | CTD_human |
| CHEK2 | C0027819 | Neuroblastoma | 1 | CTD_human |
| CHEK2 | C0029463 | Osteosarcoma | 1 | CTD_human;HPO;ORPHANET |
| CHEK2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| CHEK2 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| CHEK2 | C0206720 | Squamous Cell Neoplasms | 1 | CTD_human |
| CHEK2 | C0242788 | Breast Neoplasms, Male | 1 | CTD_human |
| CHEK2 | C2931456 | Prostate cancer, familial | 1 | CTD_human;ORPHANET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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