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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 CHD1 |
 Gene summary |
| Gene information | Gene symbol | CHD1 | Gene ID | 1105 |
| Gene name | chromodomain helicase DNA binding protein 1 | |
| Synonyms | PILBOS | |
| Cytomap | 5q15-q21.1 | |
| Type of gene | protein-coding | |
| Description | chromodomain-helicase-DNA-binding protein 1ATP-dependent helicase CHD1CHD-1 | |
| Modification date | 20180522 | |
| UniProtAcc | O14646 | |
| Context | PubMed: CHD1 [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 |
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Exon skipping events across known transcript of Ensembl for CHD1 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 CHD1 |
| 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 CHD1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_443350 | 5 | 98192270:98192429:98193883:98194094:98194667:98194719 | 98193883:98194094 | ENSG00000153922.6 | ENST00000505657.1,ENST00000514344.1,ENST00000284049.3,ENST00000512392.1,ENST00000512844.1 |
| exon_skip_443351 | 5 | 98194667:98194719:98195675:98195772:98199111:98199290 | 98195675:98195772 | ENSG00000153922.6 | ENST00000514344.1,ENST00000284049.3 |
| exon_skip_443352 | 5 | 98194667:98194719:98195675:98195772:98204198:98204243 | 98195675:98195772 | ENSG00000153922.6 | ENST00000512844.1 |
| exon_skip_443353 | 5 | 98194667:98194719:98199111:98199290:98204198:98204243 | 98199111:98199290 | ENSG00000153922.6 | ENST00000505657.1 |
| exon_skip_443354 | 5 | 98195675:98195772:98199111:98199290:98204198:98204243 | 98199111:98199290 | ENSG00000153922.6 | ENST00000514344.1,ENST00000284049.3 |
| exon_skip_443355 | 5 | 98199111:98199290:98204198:98204339:98205457:98205586 | 98204198:98204339 | ENSG00000153922.6 | ENST00000514344.1,ENST00000284049.3 |
| exon_skip_443357 | 5 | 98204198:98204339:98204717:98204981:98205457:98205586 | 98204717:98204981 | ENSG00000153922.6 | ENST00000511067.1 |
| exon_skip_443358 | 5 | 98204198:98204339:98205457:98205586:98206390:98206420 | 98205457:98205586 | ENSG00000153922.6 | ENST00000514344.1,ENST00000284049.3 |
| exon_skip_443360 | 5 | 98207754:98207905:98208120:98208259:98209296:98209427 | 98208120:98208259 | ENSG00000153922.6 | ENST00000284049.3 |
| exon_skip_443361 | 5 | 98208120:98208259:98209296:98209427:98210775:98210817 | 98209296:98209427 | ENSG00000153922.6 | ENST00000284049.3 |
| exon_skip_443362 | 5 | 98210775:98210817:98212101:98212262:98215255:98215432 | 98212101:98212262 | ENSG00000153922.6 | ENST00000284049.3 |
| exon_skip_443364 | 5 | 98216982:98217079:98217678:98217827:98218791:98218941 | 98217678:98217827 | ENSG00000153922.6 | ENST00000284049.3,ENST00000511628.1 |
| exon_skip_443366 | 5 | 98217678:98217827:98218791:98218941:98221281:98221353 | 98218791:98218941 | ENSG00000153922.6 | ENST00000284049.3,ENST00000511628.1 |
| exon_skip_443370 | 5 | 98221281:98221353:98223791:98223944:98224779:98224942 | 98223791:98223944 | ENSG00000153922.6 | ENST00000284049.3 |
| exon_skip_443372 | 5 | 98236514:98236786:98236889:98237039:98238603:98238668 | 98236889:98237039 | ENSG00000153922.6 | ENST00000284049.3 |
| exon_skip_443373 | 5 | 98239495:98239612:98240600:98240802:98262037:98262240 | 98240600:98240802 | ENSG00000153922.6 | ENST00000284049.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CHD1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_443350 | 5 | 98192270:98192429:98193883:98194094:98194667:98194719 | 98193883:98194094 | ENSG00000153922.6 | ENST00000514344.1,ENST00000512392.1,ENST00000284049.3,ENST00000512844.1,ENST00000505657.1 |
| exon_skip_443351 | 5 | 98194667:98194719:98195675:98195772:98199111:98199290 | 98195675:98195772 | ENSG00000153922.6 | ENST00000514344.1,ENST00000284049.3 |
| exon_skip_443352 | 5 | 98194667:98194719:98195675:98195772:98204198:98204243 | 98195675:98195772 | ENSG00000153922.6 | ENST00000512844.1 |
| exon_skip_443353 | 5 | 98194667:98194719:98199111:98199290:98204198:98204243 | 98199111:98199290 | ENSG00000153922.6 | ENST00000505657.1 |
| exon_skip_443354 | 5 | 98195675:98195772:98199111:98199290:98204198:98204243 | 98199111:98199290 | ENSG00000153922.6 | ENST00000514344.1,ENST00000284049.3 |
| exon_skip_443355 | 5 | 98199111:98199290:98204198:98204339:98205457:98205586 | 98204198:98204339 | ENSG00000153922.6 | ENST00000514344.1,ENST00000284049.3 |
| exon_skip_443357 | 5 | 98204198:98204339:98204717:98204981:98205457:98205586 | 98204717:98204981 | ENSG00000153922.6 | ENST00000511067.1 |
| exon_skip_443360 | 5 | 98207754:98207905:98208120:98208259:98209296:98209427 | 98208120:98208259 | ENSG00000153922.6 | ENST00000284049.3 |
| exon_skip_443361 | 5 | 98208120:98208259:98209296:98209427:98210775:98210817 | 98209296:98209427 | ENSG00000153922.6 | ENST00000284049.3 |
| exon_skip_443362 | 5 | 98210775:98210817:98212101:98212262:98215255:98215432 | 98212101:98212262 | ENSG00000153922.6 | ENST00000284049.3 |
| exon_skip_443364 | 5 | 98216982:98217079:98217678:98217827:98218791:98218941 | 98217678:98217827 | ENSG00000153922.6 | ENST00000284049.3,ENST00000511628.1 |
| exon_skip_443366 | 5 | 98217678:98217827:98218791:98218941:98221281:98221353 | 98218791:98218941 | ENSG00000153922.6 | ENST00000284049.3,ENST00000511628.1 |
| exon_skip_443370 | 5 | 98221281:98221353:98223791:98223944:98224779:98224942 | 98223791:98223944 | ENSG00000153922.6 | ENST00000284049.3 |
| exon_skip_443372 | 5 | 98236514:98236786:98236889:98237039:98238603:98238668 | 98236889:98237039 | ENSG00000153922.6 | ENST00000284049.3 |
| exon_skip_443373 | 5 | 98239495:98239612:98240600:98240802:98262037:98262240 | 98240600:98240802 | ENSG00000153922.6 | ENST00000284049.3 |
| 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 CHD1 |
| 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 |
| ENST00000284049 | 98193883 | 98194094 | Frame-shift |
| ENST00000284049 | 98195675 | 98195772 | Frame-shift |
| ENST00000284049 | 98199111 | 98199290 | Frame-shift |
| ENST00000284049 | 98208120 | 98208259 | Frame-shift |
| ENST00000284049 | 98209296 | 98209427 | Frame-shift |
| ENST00000284049 | 98212101 | 98212262 | Frame-shift |
| ENST00000284049 | 98217678 | 98217827 | Frame-shift |
| ENST00000284049 | 98240600 | 98240802 | Frame-shift |
| ENST00000284049 | 98204198 | 98204339 | In-frame |
| ENST00000284049 | 98205457 | 98205586 | In-frame |
| ENST00000284049 | 98218791 | 98218941 | In-frame |
| ENST00000284049 | 98223791 | 98223944 | In-frame |
| ENST00000284049 | 98236889 | 98237039 | 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 |
| ENST00000284049 | 98193883 | 98194094 | Frame-shift |
| ENST00000284049 | 98195675 | 98195772 | Frame-shift |
| ENST00000284049 | 98199111 | 98199290 | Frame-shift |
| ENST00000284049 | 98208120 | 98208259 | Frame-shift |
| ENST00000284049 | 98209296 | 98209427 | Frame-shift |
| ENST00000284049 | 98212101 | 98212262 | Frame-shift |
| ENST00000284049 | 98217678 | 98217827 | Frame-shift |
| ENST00000284049 | 98240600 | 98240802 | Frame-shift |
| ENST00000284049 | 98204198 | 98204339 | In-frame |
| ENST00000284049 | 98218791 | 98218941 | In-frame |
| ENST00000284049 | 98223791 | 98223944 | In-frame |
| ENST00000284049 | 98236889 | 98237039 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CHD1 |
| 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 |
| ENST00000284049 | 5935 | 1710 | 98236889 | 98237039 | 588 | 737 | 146 | 195 |
| ENST00000284049 | 5935 | 1710 | 98223791 | 98223944 | 2494 | 2646 | 781 | 832 |
| ENST00000284049 | 5935 | 1710 | 98218791 | 98218941 | 2719 | 2868 | 856 | 906 |
| ENST00000284049 | 5935 | 1710 | 98205457 | 98205586 | 4129 | 4257 | 1326 | 1369 |
| ENST00000284049 | 5935 | 1710 | 98204198 | 98204339 | 4258 | 4398 | 1369 | 1416 |
| 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 |
| ENST00000284049 | 5935 | 1710 | 98236889 | 98237039 | 588 | 737 | 146 | 195 |
| ENST00000284049 | 5935 | 1710 | 98223791 | 98223944 | 2494 | 2646 | 781 | 832 |
| ENST00000284049 | 5935 | 1710 | 98218791 | 98218941 | 2719 | 2868 | 856 | 906 |
| ENST00000284049 | 5935 | 1710 | 98204198 | 98204339 | 4258 | 4398 | 1369 | 1416 |
| 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 |
| O14646 | 146 | 195 | 1 | 1710 | Chain | ID=PRO_0000080224;Note=Chromodomain-helicase-DNA-binding protein 1 |
| O14646 | 781 | 832 | 1 | 1710 | Chain | ID=PRO_0000080224;Note=Chromodomain-helicase-DNA-binding protein 1 |
| O14646 | 781 | 832 | 792 | 943 | Domain | Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542 |
| O14646 | 856 | 906 | 1 | 1710 | Chain | ID=PRO_0000080224;Note=Chromodomain-helicase-DNA-binding protein 1 |
| O14646 | 856 | 906 | 792 | 943 | Domain | Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542 |
| O14646 | 1326 | 1369 | 1 | 1710 | Chain | ID=PRO_0000080224;Note=Chromodomain-helicase-DNA-binding protein 1 |
| O14646 | 1326 | 1369 | 1353 | 1353 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| O14646 | 1326 | 1369 | 1355 | 1355 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| O14646 | 1326 | 1369 | 1356 | 1356 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| O14646 | 1326 | 1369 | 1360 | 1360 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| O14646 | 1326 | 1369 | 1363 | 1363 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| O14646 | 1369 | 1416 | 1 | 1710 | Chain | ID=PRO_0000080224;Note=Chromodomain-helicase-DNA-binding protein 1 |
| O14646 | 1369 | 1416 | 1411 | 1420 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N39 |
| O14646 | 1369 | 1416 | 1371 | 1371 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| O14646 | 1369 | 1416 | 1373 | 1373 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O14647 |
| 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 |
| O14646 | 146 | 195 | 1 | 1710 | Chain | ID=PRO_0000080224;Note=Chromodomain-helicase-DNA-binding protein 1 |
| O14646 | 781 | 832 | 1 | 1710 | Chain | ID=PRO_0000080224;Note=Chromodomain-helicase-DNA-binding protein 1 |
| O14646 | 781 | 832 | 792 | 943 | Domain | Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542 |
| O14646 | 856 | 906 | 1 | 1710 | Chain | ID=PRO_0000080224;Note=Chromodomain-helicase-DNA-binding protein 1 |
| O14646 | 856 | 906 | 792 | 943 | Domain | Note=Helicase C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00542 |
| O14646 | 1369 | 1416 | 1 | 1710 | Chain | ID=PRO_0000080224;Note=Chromodomain-helicase-DNA-binding protein 1 |
| O14646 | 1369 | 1416 | 1411 | 1420 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2N39 |
| O14646 | 1369 | 1416 | 1371 | 1371 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| O14646 | 1369 | 1416 | 1373 | 1373 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O14647 |
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SNVs in the skipped exons for CHD1 |
| - 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. |
| - 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 |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_443351 exon_skip_443352 | 98195676 | 98195772 | 98195691 | 98195691 | Frame_Shift_Del | T | - | p.K1503fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_443351 exon_skip_443352 | 98195676 | 98195772 | 98195707 | 98195707 | Frame_Shift_Del | T | - | p.K1498fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_443351 exon_skip_443352 | 98195676 | 98195772 | 98195724 | 98195724 | Frame_Shift_Del | T | - | p.K1492fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_443351 exon_skip_443352 | 98195676 | 98195772 | 98195724 | 98195724 | Frame_Shift_Del | T | - | p.K1492fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_443364 | 98217679 | 98217827 | 98217714 | 98217714 | Frame_Shift_Del | C | - | p.G944fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_443366 | 98218792 | 98218941 | 98218935 | 98218935 | Frame_Shift_Del | A | - | p.C859fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_443370 | 98223792 | 98223944 | 98223857 | 98223857 | Frame_Shift_Del | A | - | p.S811fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_443372 | 98236890 | 98237039 | 98236893 | 98236893 | Frame_Shift_Del | T | - | p.N195fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_443372 | 98236890 | 98237039 | 98236901 | 98236901 | Frame_Shift_Del | T | - | p.K192fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_443372 | 98236890 | 98237039 | 98236920 | 98236920 | Frame_Shift_Del | T | - | p.N186fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_443373 | 98240601 | 98240802 | 98240641 | 98240641 | Frame_Shift_Del | T | - | p.N72fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_443373 | 98240601 | 98240802 | 98240758 | 98240758 | Frame_Shift_Del | C | - | p.G33fs |
| LUAD | TCGA-44-2656-01 | exon_skip_443350 | 98193884 | 98194094 | 98193965 | 98193966 | Frame_Shift_Ins | - | T | p.S1569fs |
| PRAD | TCGA-EJ-8468-01 | exon_skip_443358 | 98205458 | 98205586 | 98205472 | 98205473 | Frame_Shift_Ins | - | AT | p.E1365fs |
| PRAD | TCGA-EJ-8468-01 | exon_skip_443358 | 98205458 | 98205586 | 98205472 | 98205473 | Frame_Shift_Ins | - | AT | p.R1365fs |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_443353 exon_skip_443354 | 98199112 | 98199290 | 98199149 | 98199149 | Nonsense_Mutation | C | A | p.E1464* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_443353 exon_skip_443354 | 98199112 | 98199290 | 98199284 | 98199284 | Nonsense_Mutation | C | A | p.E1419* |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_443360 | 98208121 | 98208259 | 98208173 | 98208173 | Nonsense_Mutation | C | A | p.E1220* |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_443361 | 98209297 | 98209427 | 98209360 | 98209360 | Nonsense_Mutation | C | A | p.E1170* |
| BLCA | TCGA-GD-A3OP-01 | exon_skip_443361 | 98209297 | 98209427 | 98209411 | 98209411 | Nonsense_Mutation | G | A | p.R1153* |
| BLCA | TCGA-BT-A2LB-01 | exon_skip_443351 exon_skip_443352 | 98195676 | 98195772 | 98195774 | 98195774 | Splice_Site | T | C | p.K1476_splice |
| LIHC | TCGA-ES-A2HS-01 | exon_skip_443355 | 98204199 | 98204339 | 98204197 | 98204197 | Splice_Site | A | T | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| HEC59_ENDOMETRIUM | 98193884 | 98194094 | 98193966 | 98193966 | Frame_Shift_Del | T | - | p.S1569fs |
| NCIH250_LUNG | 98208121 | 98208259 | 98208242 | 98208242 | Frame_Shift_Del | C | - | p.V1197fs |
| A375_SKIN | 98240601 | 98240802 | 98240669 | 98240672 | Frame_Shift_Del | CTGA | - | p.SE64fs |
| CW2_LARGE_INTESTINE | 98195676 | 98195772 | 98195690 | 98195691 | Frame_Shift_Ins | - | T | p.R1504fs |
| F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98217679 | 98217827 | 98217762 | 98217763 | Frame_Shift_Ins | - | T | p.K928fs |
| JMSU1_URINARY_TRACT | 98217679 | 98217827 | 98217762 | 98217763 | Frame_Shift_Ins | - | T | p.K928fs |
| EN_ENDOMETRIUM | 98236890 | 98237039 | 98236919 | 98236920 | Frame_Shift_Ins | - | T | p.N186fs |
| C2BBE1_LARGE_INTESTINE | 98236890 | 98237039 | 98236919 | 98236920 | Frame_Shift_Ins | - | T | p.N186fs |
| DMS153_LUNG | 98236890 | 98237039 | 98236919 | 98236920 | Frame_Shift_Ins | - | T | p.N186fs |
| DU145_PROSTATE | 98236890 | 98237039 | 98236919 | 98236920 | Frame_Shift_Ins | - | T | p.N186fs |
| HCC44_LUNG | 98236890 | 98237039 | 98236919 | 98236920 | Frame_Shift_Ins | - | T | p.N186fs |
| ZR751_BREAST | 98236890 | 98237039 | 98236919 | 98236920 | Frame_Shift_Ins | - | T | p.N186fs |
| IPC298_SKIN | 98240601 | 98240802 | 98240622 | 98240623 | Frame_Shift_Ins | - | G | p.P78fs |
| HEC1A_ENDOMETRIUM | 98193884 | 98194094 | 98193915 | 98193915 | Missense_Mutation | G | A | p.R1586C |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98193884 | 98194094 | 98193929 | 98193929 | Missense_Mutation | T | C | p.N1581S |
| KMBC2_URINARY_TRACT | 98193884 | 98194094 | 98193941 | 98193941 | Missense_Mutation | G | C | p.S1577C |
| SNU81_LARGE_INTESTINE | 98193884 | 98194094 | 98193950 | 98193950 | Missense_Mutation | C | A | p.R1574I |
| SNU1040_LARGE_INTESTINE | 98193884 | 98194094 | 98194022 | 98194022 | Missense_Mutation | A | G | p.L1550S |
| PLCPRF5_LIVER | 98193884 | 98194094 | 98194049 | 98194049 | Missense_Mutation | C | A | p.R1541M |
| LB831BLC_URINARY_TRACT | 98193884 | 98194094 | 98194057 | 98194057 | Missense_Mutation | A | T | p.D1538E |
| LB831EBV_MATCHED_NORMAL_TISSUE | 98193884 | 98194094 | 98194057 | 98194057 | Missense_Mutation | A | T | p.D1538E |
| NCIH835_LUNG | 98195676 | 98195772 | 98195752 | 98195752 | Missense_Mutation | G | C | p.S1483C |
| SKUT1_SOFT_TISSUE | 98199112 | 98199290 | 98199128 | 98199128 | Missense_Mutation | T | A | p.I1471F |
| HEC1B_ENDOMETRIUM | 98204199 | 98204339 | 98204203 | 98204203 | Missense_Mutation | C | T | p.S1415N |
| NCIH1770_LUNG | 98204199 | 98204339 | 98204219 | 98204219 | Missense_Mutation | C | T | p.D1410N |
| NCIH2106_LUNG | 98204199 | 98204339 | 98204219 | 98204219 | Missense_Mutation | C | T | p.D1410N |
| OVTOKO_OVARY | 98205458 | 98205586 | 98205493 | 98205493 | Missense_Mutation | G | C | p.L1358V |
| HCT15_LARGE_INTESTINE | 98205458 | 98205586 | 98205540 | 98205540 | Missense_Mutation | A | G | p.M1342T |
| HRT18_LARGE_INTESTINE | 98205458 | 98205586 | 98205540 | 98205540 | Missense_Mutation | A | G | p.M1342T |
| NH6_AUTONOMIC_GANGLIA | 98208121 | 98208259 | 98208136 | 98208136 | Missense_Mutation | G | A | p.P1232L |
| LXF289_LUNG | 98209297 | 98209427 | 98209342 | 98209342 | Missense_Mutation | A | T | p.C1176S |
| MZ2MEL_SKIN | 98209297 | 98209427 | 98209420 | 98209420 | Missense_Mutation | C | T | p.A1150T |
| BE2M17_AUTONOMIC_GANGLIA | 98212102 | 98212262 | 98212167 | 98212167 | Missense_Mutation | T | G | p.K1111N |
| SKNBE2_AUTONOMIC_GANGLIA | 98212102 | 98212262 | 98212167 | 98212167 | Missense_Mutation | T | G | p.K1111N |
| SNU449_LIVER | 98217679 | 98217827 | 98217718 | 98217718 | Missense_Mutation | G | A | p.T943I |
| CW2_LARGE_INTESTINE | 98217679 | 98217827 | 98217719 | 98217719 | Missense_Mutation | T | A | p.T943S |
| MYLA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98217679 | 98217827 | 98217736 | 98217736 | Missense_Mutation | A | T | p.I937N |
| SNU81_LARGE_INTESTINE | 98218792 | 98218941 | 98218811 | 98218811 | Missense_Mutation | C | T | p.R900Q |
| RHJT_SOFT_TISSUE | 98218792 | 98218941 | 98218927 | 98218927 | Missense_Mutation | C | A | p.L861F |
| MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98236890 | 98237039 | 98236893 | 98236893 | Missense_Mutation | T | C | p.N195S |
| NHAHTDD_CENTRAL_NERVOUS_SYSTEM | 98236890 | 98237039 | 98237032 | 98237032 | Missense_Mutation | A | G | p.W149R |
| SISO_CERVIX | 98240601 | 98240802 | 98240695 | 98240695 | Missense_Mutation | G | C | p.S54C |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98240601 | 98240802 | 98240695 | 98240695 | Missense_Mutation | G | C | p.S54C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CHD1 |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CHD1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CHD1 |
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RelatedDrugs for CHD1 |
| 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 |
| O14646 | DB00445 | Epirubicin | Chromodomain-helicase-DNA-binding protein 1 | small molecule | approved |
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RelatedDiseases for CHD1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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