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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 CHD8 |
 Gene summary |
| Gene information | Gene symbol | CHD8 | Gene ID | 57680 |
| Gene name | chromodomain helicase DNA binding protein 8 | |
| Synonyms | AUTS18|HELSNF1 | |
| Cytomap | 14q11.2 | |
| Type of gene | protein-coding | |
| Description | chromodomain-helicase-DNA-binding protein 8ATP-dependent helicase CHD8axis duplication inhibitorduplinhelicase with SNF2 domain 1 | |
| Modification date | 20200329 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| CHD8 | GO:0045893 | positive regulation of transcription, DNA-templated | 17938208 |
| CHD8 | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 18378692|22083958 |
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Gene structures and expression levels for CHD8 |
| 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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ENSG00000100888
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
 |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000557727.1 | CHD8-214:retained_intron:CHD8 | 4.802078e+02 | -9.363046e-01 | 3.440917e-09 | 1.228708e-07 |
| CB | DOWN | ENST00000553870.2 | CHD8-206:protein_coding:CHD8 | 9.926100e+01 | -1.024455e+00 | 7.289253e-04 | 3.960081e-03 |
| 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 CHD8 |
| 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_140126 | chr14 | 21390947:21391063:21391463:21391642:21391833:21391946 | 21391463:21391642 |
| exon_skip_162389 | chr14 | 21394913:21395119:21395298:21395352:21395817:21395892 | 21395298:21395352 |
| exon_skip_164638 | chr14 | 21431811:21431858:21436901:21436965:21437194:21437230 | 21436901:21436965 |
| exon_skip_171831 | chr14 | 21412913:21412996:21414301:21414418:21414938:21414993 | 21414301:21414418 |
| exon_skip_196339 | chr14 | 21428964:21429335:21430801:21431643:21431811:21431858 | 21430801:21431643 |
| exon_skip_278514 | chr14 | 21428964:21429335:21430801:21431724:21431811:21431858 | 21430801:21431724 |
| exon_skip_279 | chr14 | 21431811:21431858:21454949:21455143:21456032:21456090 | 21454949:21455143 |
| exon_skip_283056 | chr14 | 21409851:21409988:21412913:21412996:21414301:21414418 | 21412913:21412996 |
| exon_skip_41268 | chr14 | 21403453:21403663:21405209:21405464:21405721:21405864 | 21405209:21405464 |
| exon_skip_42160 | chr14 | 21429171:21429335:21430801:21431724:21431811:21431858 | 21430801:21431724 |
| exon_skip_73364 | chr14 | 21429171:21429335:21430801:21431643:21431811:21431858 | 21430801:21431643 |
| 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 CHD8 |
| 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 |
| ENST00000643469 | 21436901 | 21436965 | 3UTR-3UTR |
| ENST00000399982 | 21395298 | 21395352 | Frame-shift |
| ENST00000557364 | 21395298 | 21395352 | Frame-shift |
| ENST00000643469 | 21395298 | 21395352 | Frame-shift |
| ENST00000646647 | 21395298 | 21395352 | Frame-shift |
| ENST00000399982 | 21405209 | 21405464 | Frame-shift |
| ENST00000557364 | 21405209 | 21405464 | Frame-shift |
| ENST00000643469 | 21405209 | 21405464 | Frame-shift |
| ENST00000646647 | 21405209 | 21405464 | Frame-shift |
| ENST00000399982 | 21414301 | 21414418 | Frame-shift |
| ENST00000557364 | 21414301 | 21414418 | Frame-shift |
| ENST00000643469 | 21414301 | 21414418 | Frame-shift |
| ENST00000646647 | 21414301 | 21414418 | Frame-shift |
| ENST00000399982 | 21391463 | 21391642 | In-frame |
| ENST00000557364 | 21391463 | 21391642 | In-frame |
| ENST00000643469 | 21391463 | 21391642 | In-frame |
| ENST00000646647 | 21391463 | 21391642 | In-frame |
| ENST00000399982 | 21412913 | 21412996 | In-frame |
| ENST00000557364 | 21412913 | 21412996 | In-frame |
| ENST00000643469 | 21412913 | 21412996 | In-frame |
| ENST00000646647 | 21412913 | 21412996 | 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 |
| ENST00000643469 | 21436901 | 21436965 | 3UTR-3UTR |
| 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 |
| ENST00000643469 | 21436901 | 21436965 | 3UTR-3UTR |
| ENST00000399982 | 21395298 | 21395352 | Frame-shift |
| ENST00000557364 | 21395298 | 21395352 | Frame-shift |
| ENST00000643469 | 21395298 | 21395352 | Frame-shift |
| ENST00000646647 | 21395298 | 21395352 | Frame-shift |
| ENST00000399982 | 21414301 | 21414418 | Frame-shift |
| ENST00000557364 | 21414301 | 21414418 | Frame-shift |
| ENST00000643469 | 21414301 | 21414418 | Frame-shift |
| ENST00000646647 | 21414301 | 21414418 | Frame-shift |
| ENST00000399982 | 21391463 | 21391642 | In-frame |
| ENST00000557364 | 21391463 | 21391642 | In-frame |
| ENST00000643469 | 21391463 | 21391642 | In-frame |
| ENST00000646647 | 21391463 | 21391642 | In-frame |
| ENST00000399982 | 21412913 | 21412996 | In-frame |
| ENST00000557364 | 21412913 | 21412996 | In-frame |
| ENST00000643469 | 21412913 | 21412996 | In-frame |
| ENST00000646647 | 21412913 | 21412996 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for CHD8 |
p-ENSG00000100888_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 |
| ENST00000399982 | 8246 | 2581 | 21412913 | 21412996 | 2208 | 2290 | 714 | 741 |
| ENST00000557364 | 8180 | 2581 | 21412913 | 21412996 | 2441 | 2523 | 714 | 741 |
| ENST00000643469 | 8276 | 2581 | 21412913 | 21412996 | 2538 | 2620 | 714 | 741 |
| ENST00000646647 | 8488 | 2581 | 21412913 | 21412996 | 2453 | 2535 | 714 | 741 |
| ENST00000399982 | 8246 | 2581 | 21391463 | 21391642 | 6951 | 7129 | 2295 | 2354 |
| ENST00000557364 | 8180 | 2581 | 21391463 | 21391642 | 7184 | 7362 | 2295 | 2354 |
| ENST00000643469 | 8276 | 2581 | 21391463 | 21391642 | 7281 | 7459 | 2295 | 2354 |
| ENST00000646647 | 8488 | 2581 | 21391463 | 21391642 | 7196 | 7374 | 2295 | 2354 |
| 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 |
| ENST00000399982 | 8246 | 2581 | 21412913 | 21412996 | 2208 | 2290 | 714 | 741 |
| ENST00000557364 | 8180 | 2581 | 21412913 | 21412996 | 2441 | 2523 | 714 | 741 |
| ENST00000643469 | 8276 | 2581 | 21412913 | 21412996 | 2538 | 2620 | 714 | 741 |
| ENST00000646647 | 8488 | 2581 | 21412913 | 21412996 | 2453 | 2535 | 714 | 741 |
| ENST00000399982 | 8246 | 2581 | 21391463 | 21391642 | 6951 | 7129 | 2295 | 2354 |
| ENST00000557364 | 8180 | 2581 | 21391463 | 21391642 | 7184 | 7362 | 2295 | 2354 |
| ENST00000643469 | 8276 | 2581 | 21391463 | 21391642 | 7281 | 7459 | 2295 | 2354 |
| ENST00000646647 | 8488 | 2581 | 21391463 | 21391642 | 7196 | 7374 | 2295 | 2354 |
| 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 |
| Q9HCK8 | 714 | 741 | 1 | 2581 | Chain | ID=PRO_0000080233;Note=Chromodomain-helicase-DNA-binding protein 8 |
| Q9HCK8 | 714 | 741 | 1 | 2581 | Chain | ID=PRO_0000080233;Note=Chromodomain-helicase-DNA-binding protein 8 |
| Q9HCK8 | 714 | 741 | 1 | 2581 | Chain | ID=PRO_0000080233;Note=Chromodomain-helicase-DNA-binding protein 8 |
| Q9HCK8 | 714 | 741 | 1 | 2581 | Chain | ID=PRO_0000080233;Note=Chromodomain-helicase-DNA-binding protein 8 |
| Q9HCK8 | 714 | 741 | 724 | 790 | Domain | Note=Chromo 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03071 |
| Q9HCK8 | 714 | 741 | 724 | 790 | Domain | Note=Chromo 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03071 |
| Q9HCK8 | 714 | 741 | 724 | 790 | Domain | Note=Chromo 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03071 |
| Q9HCK8 | 714 | 741 | 724 | 790 | Domain | Note=Chromo 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03071 |
| Q9HCK8 | 2295 | 2354 | 2311 | 2314 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2311 | 2314 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2311 | 2314 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2311 | 2314 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2317 | 2319 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2317 | 2319 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2317 | 2319 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2317 | 2319 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2347 | 2349 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2347 | 2349 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2347 | 2349 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2347 | 2349 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 1 | 2581 | Chain | ID=PRO_0000080233;Note=Chromodomain-helicase-DNA-binding protein 8 |
| Q9HCK8 | 2295 | 2354 | 1 | 2581 | Chain | ID=PRO_0000080233;Note=Chromodomain-helicase-DNA-binding protein 8 |
| Q9HCK8 | 2295 | 2354 | 1 | 2581 | Chain | ID=PRO_0000080233;Note=Chromodomain-helicase-DNA-binding protein 8 |
| Q9HCK8 | 2295 | 2354 | 1 | 2581 | Chain | ID=PRO_0000080233;Note=Chromodomain-helicase-DNA-binding protein 8 |
| Q9HCK8 | 2295 | 2354 | 2328 | 2330 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DL6 |
| Q9HCK8 | 2295 | 2354 | 2328 | 2330 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DL6 |
| Q9HCK8 | 2295 | 2354 | 2328 | 2330 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DL6 |
| Q9HCK8 | 2295 | 2354 | 2328 | 2330 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DL6 |
| Q9HCK8 | 2295 | 2354 | 2334 | 2343 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2334 | 2343 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2334 | 2343 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2334 | 2343 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2351 | 2359 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2351 | 2359 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2351 | 2359 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2351 | 2359 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 1789 | 2302 | Region | Note=Interaction with FAM124B;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|HAMAP-Rule:MF_03071,ECO:0000269|PubMed:23285124;Dbxref=PMID:23285124 |
| Q9HCK8 | 2295 | 2354 | 1789 | 2302 | Region | Note=Interaction with FAM124B;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|HAMAP-Rule:MF_03071,ECO:0000269|PubMed:23285124;Dbxref=PMID:23285124 |
| Q9HCK8 | 2295 | 2354 | 1789 | 2302 | Region | Note=Interaction with FAM124B;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|HAMAP-Rule:MF_03071,ECO:0000269|PubMed:23285124;Dbxref=PMID:23285124 |
| Q9HCK8 | 2295 | 2354 | 1789 | 2302 | Region | Note=Interaction with FAM124B;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|HAMAP-Rule:MF_03071,ECO:0000269|PubMed:23285124;Dbxref=PMID:23285124 |
| Q9HCK8 | 2295 | 2354 | 2320 | 2322 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2320 | 2322 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2320 | 2322 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2320 | 2322 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| 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 |
| Q9HCK8 | 714 | 741 | 1 | 2581 | Chain | ID=PRO_0000080233;Note=Chromodomain-helicase-DNA-binding protein 8 |
| Q9HCK8 | 714 | 741 | 1 | 2581 | Chain | ID=PRO_0000080233;Note=Chromodomain-helicase-DNA-binding protein 8 |
| Q9HCK8 | 714 | 741 | 1 | 2581 | Chain | ID=PRO_0000080233;Note=Chromodomain-helicase-DNA-binding protein 8 |
| Q9HCK8 | 714 | 741 | 1 | 2581 | Chain | ID=PRO_0000080233;Note=Chromodomain-helicase-DNA-binding protein 8 |
| Q9HCK8 | 714 | 741 | 724 | 790 | Domain | Note=Chromo 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03071 |
| Q9HCK8 | 714 | 741 | 724 | 790 | Domain | Note=Chromo 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03071 |
| Q9HCK8 | 714 | 741 | 724 | 790 | Domain | Note=Chromo 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03071 |
| Q9HCK8 | 714 | 741 | 724 | 790 | Domain | Note=Chromo 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03071 |
| Q9HCK8 | 2295 | 2354 | 2311 | 2314 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2311 | 2314 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2311 | 2314 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2311 | 2314 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2317 | 2319 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2317 | 2319 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2317 | 2319 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2317 | 2319 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2347 | 2349 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2347 | 2349 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2347 | 2349 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2347 | 2349 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 1 | 2581 | Chain | ID=PRO_0000080233;Note=Chromodomain-helicase-DNA-binding protein 8 |
| Q9HCK8 | 2295 | 2354 | 1 | 2581 | Chain | ID=PRO_0000080233;Note=Chromodomain-helicase-DNA-binding protein 8 |
| Q9HCK8 | 2295 | 2354 | 1 | 2581 | Chain | ID=PRO_0000080233;Note=Chromodomain-helicase-DNA-binding protein 8 |
| Q9HCK8 | 2295 | 2354 | 1 | 2581 | Chain | ID=PRO_0000080233;Note=Chromodomain-helicase-DNA-binding protein 8 |
| Q9HCK8 | 2295 | 2354 | 2328 | 2330 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DL6 |
| Q9HCK8 | 2295 | 2354 | 2328 | 2330 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DL6 |
| Q9HCK8 | 2295 | 2354 | 2328 | 2330 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DL6 |
| Q9HCK8 | 2295 | 2354 | 2328 | 2330 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2DL6 |
| Q9HCK8 | 2295 | 2354 | 2334 | 2343 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2334 | 2343 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2334 | 2343 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2334 | 2343 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2351 | 2359 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2351 | 2359 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2351 | 2359 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2351 | 2359 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 1789 | 2302 | Region | Note=Interaction with FAM124B;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|HAMAP-Rule:MF_03071,ECO:0000269|PubMed:23285124;Dbxref=PMID:23285124 |
| Q9HCK8 | 2295 | 2354 | 1789 | 2302 | Region | Note=Interaction with FAM124B;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|HAMAP-Rule:MF_03071,ECO:0000269|PubMed:23285124;Dbxref=PMID:23285124 |
| Q9HCK8 | 2295 | 2354 | 1789 | 2302 | Region | Note=Interaction with FAM124B;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|HAMAP-Rule:MF_03071,ECO:0000269|PubMed:23285124;Dbxref=PMID:23285124 |
| Q9HCK8 | 2295 | 2354 | 1789 | 2302 | Region | Note=Interaction with FAM124B;Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|HAMAP-Rule:MF_03071,ECO:0000269|PubMed:23285124;Dbxref=PMID:23285124 |
| Q9HCK8 | 2295 | 2354 | 2320 | 2322 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2320 | 2322 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2320 | 2322 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
| Q9HCK8 | 2295 | 2354 | 2320 | 2322 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2CKA |
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3'-UTR located exon skipping events that lost miRNA binding sites in CHD8 |
| 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 |
| Mayo | ENST00000643469 | 21436901 | 21436965 | hsa-miR-9851-3p | chr14:21436920-21436927 | 8mer-1a | chr14:21436906-21436927 | 176.00 | -36.68 |
| Mayo | ENST00000643469 | 21436901 | 21436965 | hsa-miR-4999-5p | chr14:21436937-21436944 | 8mer-1a | chr14:21436933-21436954 | 145.00 | -21.42 |
| Mayo | ENST00000643469 | 21436901 | 21436965 | hsa-miR-659-5p | chr14:21436930-21436937 | 8mer-1a | chr14:21436916-21436937 | 163.00 | -20.33 |
| Mayo | ENST00000643469 | 21436901 | 21436965 | hsa-miR-593-5p | chr14:21436920-21436927 | 8mer-1a | chr14:21436906-21436927 | 176.00 | -36.68 |
| MSBB | ENST00000643469 | 21436901 | 21436965 | hsa-miR-9851-3p | chr14:21436920-21436927 | 8mer-1a | chr14:21436906-21436927 | 176.00 | -36.68 |
| MSBB | ENST00000643469 | 21436901 | 21436965 | hsa-miR-4999-5p | chr14:21436937-21436944 | 8mer-1a | chr14:21436933-21436954 | 145.00 | -21.42 |
| MSBB | ENST00000643469 | 21436901 | 21436965 | hsa-miR-659-5p | chr14:21436930-21436937 | 8mer-1a | chr14:21436916-21436937 | 163.00 | -20.33 |
| MSBB | ENST00000643469 | 21436901 | 21436965 | hsa-miR-593-5p | chr14:21436920-21436927 | 8mer-1a | chr14:21436906-21436927 | 176.00 | -36.68 |
| ROSMAP | ENST00000643469 | 21436901 | 21436965 | hsa-miR-9851-3p | chr14:21436920-21436927 | 8mer-1a | chr14:21436906-21436927 | 176.00 | -36.68 |
| ROSMAP | ENST00000643469 | 21436901 | 21436965 | hsa-miR-4999-5p | chr14:21436937-21436944 | 8mer-1a | chr14:21436933-21436954 | 145.00 | -21.42 |
| ROSMAP | ENST00000643469 | 21436901 | 21436965 | hsa-miR-659-5p | chr14:21436930-21436937 | 8mer-1a | chr14:21436916-21436937 | 163.00 | -20.33 |
| ROSMAP | ENST00000643469 | 21436901 | 21436965 | hsa-miR-593-5p | chr14:21436920-21436927 | 8mer-1a | chr14:21436906-21436927 | 176.00 | -36.68 |
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SNVs in the skipped exons for CHD8 |
| - 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 CHD8 |
| 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 CHD8 |
| 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 CHD8 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | SNRPA | exon_skip_162389 | -4.133160e-01 | 7.449587e-08 |
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RelatedDrugs for CHD8 |
| 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 CHD8 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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