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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 CHD2 |
 Gene summary |
| Gene information | Gene symbol | CHD2 | Gene ID | 1106 |
| Gene name | chromodomain helicase DNA binding protein 2 | |
| Synonyms | EEOC | |
| Cytomap | 15q26.1 | |
| Type of gene | protein-coding | |
| Description | chromodomain-helicase-DNA-binding protein 2ATP-dependent helicase CHD2CHD-2 | |
| Modification date | 20200313 | |
| UniProtAcc | A0A024RC75, A0A0D9SEH6, A0A0D9SEP7, A0A0D9SET4, A0A0D9SEU0, A0A0D9SF92, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for CHD2 |
| 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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ENSG00000173575
| 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 | ENST00000628118.1 | CHD2-213:lncRNA:CHD2 | 1.378574e+01 | 8.504226e-01 | 1.897601e-07 | 3.648643e-06 |
| CB | UP | ENST00000625990.2 | CHD2-206:protein_coding:CHD2 | 4.040548e+00 | 1.477812e+00 | 1.308816e-05 | 1.322267e-04 |
| 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 CHD2 |
| 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_102264 | chr15 | 92981365:92981457:92984330:92984500:92985498:92985673 | 92984330:92984500 |
| exon_skip_106247 | chr15 | 92991476:92991517:92992859:92992998:92996957:92997069 | 92992859:92992998 |
| exon_skip_121666 | chr15 | 93002177:93002317:93004617:93004751:93009145:93009323 | 93004617:93004751 |
| exon_skip_133257 | chr15 | 92997316:92997403:92998499:92998621:93000512:93000535 | 92998499:92998621 |
| exon_skip_188635 | chr15 | 92929030:92929091:92937518:92937625:92939578:92939718 | 92937518:92937625 |
| exon_skip_191198 | chr15 | 92997316:92997403:92998138:92998261:92998499:92998621 | 92998138:92998261 |
| exon_skip_193406 | chr15 | 92997368:92997403:92998149:92998261:92998499:92998621 | 92998149:92998261 |
| exon_skip_194369 | chr15 | 92997316:92997403:92998149:92998261:92998499:92998621 | 92998149:92998261 |
| exon_skip_229819 | chr15 | 92991476:92991517:92991693:92991759:92992859:92992998 | 92991693:92991759 |
| exon_skip_243155 | chr15 | 92997329:92997403:92998149:92998261:92998499:92998621 | 92998149:92998261 |
| exon_skip_268706 | chr15 | 92955423:92955512:92956459:92956649:92967325:92967341 | 92956459:92956649 |
| exon_skip_41925 | chr15 | 93000512:93000640:93002177:93002317:93004617:93004646 | 93002177:93002317 |
| 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 CHD2 |
| 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 |
| ENST00000394196 | 92956459 | 92956649 | Frame-shift |
| ENST00000394196 | 92992859 | 92992998 | Frame-shift |
| ENST00000394196 | 92937518 | 92937625 | In-frame |
| ENST00000394196 | 92984330 | 92984500 | In-frame |
| ENST00000394196 | 93004617 | 93004751 | 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 |
| ENST00000394196 | 92956459 | 92956649 | Frame-shift |
| ENST00000394196 | 92937518 | 92937625 | 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 |
| ENST00000394196 | 92956459 | 92956649 | Frame-shift |
| ENST00000394196 | 92937518 | 92937625 | In-frame |
| ENST00000394196 | 92998499 | 92998621 | In-frame |
| ENST00000394196 | 93002177 | 93002317 | In-frame |
| ENST00000394196 | 93004617 | 93004751 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CHD2 |
p-ENSG00000173575_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 |
| ENST00000394196 | 9380 | 1828 | 92937518 | 92937625 | 1021 | 1127 | 148 | 183 |
| ENST00000394196 | 9380 | 1828 | 92984330 | 92984500 | 3644 | 3813 | 1022 | 1079 |
| ENST00000394196 | 9380 | 1828 | 93004617 | 93004751 | 4856 | 4989 | 1426 | 1471 |
| 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 |
| ENST00000394196 | 9380 | 1828 | 92937518 | 92937625 | 1021 | 1127 | 148 | 183 |
| 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 |
| ENST00000394196 | 9380 | 1828 | 92937518 | 92937625 | 1021 | 1127 | 148 | 183 |
| ENST00000394196 | 9380 | 1828 | 92998499 | 92998621 | 4463 | 4584 | 1295 | 1336 |
| ENST00000394196 | 9380 | 1828 | 93004617 | 93004751 | 4856 | 4989 | 1426 | 1471 |
| 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 |
| O14647 | 148 | 183 | 1 | 1828 | Chain | ID=PRO_0000080226;Note=Chromodomain-helicase-DNA-binding protein 2 |
| O14647 | 148 | 183 | 112 | 1828 | Natural variant | ID=VAR_078614;Note=In EEOC. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25356899;Dbxref=PMID:25356899 |
| O14647 | 148 | 183 | 121 | 1828 | Natural variant | ID=VAR_078615;Note=In EEOC. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23708187;Dbxref=PMID:23708187 |
| O14647 | 1022 | 1079 | 502 | 1828 | Alternative sequence | ID=VSP_042791;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:15489334 |
| O14647 | 1022 | 1079 | 1 | 1828 | Chain | ID=PRO_0000080226;Note=Chromodomain-helicase-DNA-binding protein 2 |
| O14647 | 1022 | 1079 | 966 | 1066 | Compositional bias | Note=Glu-rich |
| O14647 | 1022 | 1079 | 112 | 1828 | Natural variant | ID=VAR_078614;Note=In EEOC. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25356899;Dbxref=PMID:25356899 |
| O14647 | 1022 | 1079 | 121 | 1828 | Natural variant | ID=VAR_078615;Note=In EEOC. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23708187;Dbxref=PMID:23708187 |
| O14647 | 1426 | 1471 | 502 | 1828 | Alternative sequence | ID=VSP_042791;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:15489334 |
| O14647 | 1426 | 1471 | 1 | 1828 | Chain | ID=PRO_0000080226;Note=Chromodomain-helicase-DNA-binding protein 2 |
| O14647 | 1426 | 1471 | 112 | 1828 | Natural variant | ID=VAR_078614;Note=In EEOC. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25356899;Dbxref=PMID:25356899 |
| O14647 | 1426 | 1471 | 121 | 1828 | Natural variant | ID=VAR_078615;Note=In EEOC. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23708187;Dbxref=PMID:23708187 |
| 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 |
| O14647 | 148 | 183 | 1 | 1828 | Chain | ID=PRO_0000080226;Note=Chromodomain-helicase-DNA-binding protein 2 |
| O14647 | 148 | 183 | 112 | 1828 | Natural variant | ID=VAR_078614;Note=In EEOC. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25356899;Dbxref=PMID:25356899 |
| O14647 | 148 | 183 | 121 | 1828 | Natural variant | ID=VAR_078615;Note=In EEOC. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23708187;Dbxref=PMID:23708187 |
| 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 |
| O14647 | 148 | 183 | 1 | 1828 | Chain | ID=PRO_0000080226;Note=Chromodomain-helicase-DNA-binding protein 2 |
| O14647 | 148 | 183 | 112 | 1828 | Natural variant | ID=VAR_078614;Note=In EEOC. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25356899;Dbxref=PMID:25356899 |
| O14647 | 148 | 183 | 121 | 1828 | Natural variant | ID=VAR_078615;Note=In EEOC. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23708187;Dbxref=PMID:23708187 |
| O14647 | 1295 | 1336 | 502 | 1828 | Alternative sequence | ID=VSP_042791;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:15489334 |
| O14647 | 1295 | 1336 | 1 | 1828 | Chain | ID=PRO_0000080226;Note=Chromodomain-helicase-DNA-binding protein 2 |
| O14647 | 1295 | 1336 | 112 | 1828 | Natural variant | ID=VAR_078614;Note=In EEOC. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25356899;Dbxref=PMID:25356899 |
| O14647 | 1295 | 1336 | 121 | 1828 | Natural variant | ID=VAR_078615;Note=In EEOC. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23708187;Dbxref=PMID:23708187 |
| O14647 | 1426 | 1471 | 502 | 1828 | Alternative sequence | ID=VSP_042791;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:15489334 |
| O14647 | 1426 | 1471 | 1 | 1828 | Chain | ID=PRO_0000080226;Note=Chromodomain-helicase-DNA-binding protein 2 |
| O14647 | 1426 | 1471 | 112 | 1828 | Natural variant | ID=VAR_078614;Note=In EEOC. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25356899;Dbxref=PMID:25356899 |
| O14647 | 1426 | 1471 | 121 | 1828 | Natural variant | ID=VAR_078615;Note=In EEOC. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23708187;Dbxref=PMID:23708187 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CHD2 |
| 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 CHD2 |
| - 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 CHD2 |
| 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 CHD2 |
| 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 CHD2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CHD2 |
| 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 CHD2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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