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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for DOCK1 |
Gene summary |
Gene information | Gene symbol | DOCK1 | Gene ID | 1793 |
Gene name | dedicator of cytokinesis 1 | |
Synonyms | DOCK180|ced5 | |
Cytomap | 10q26.2 | |
Type of gene | protein-coding | |
Description | dedicator of cytokinesis protein 1180 kDa protein downstream of CRKDOwnstream of CrK | |
Modification date | 20200327 | |
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 |
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Gene structures and expression levels for DOCK1 |
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. |
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 |
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 DOCK1 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_100187 | chr10 | 127052681:127052815:127061668:127061776:127106231:127106301 | 127061668:127061776 |
exon_skip_121977 | chr10 | 127012295:127012374:127018710:127018835:127023200:127023324 | 127018710:127018835 |
exon_skip_12883 | chr10 | 126999354:126999435:127000172:127000307:127008732:127008804 | 127000172:127000307 |
exon_skip_138072 | chr10 | 126990455:126990603:126996748:126996883:126998092:126998249 | 126996748:126996883 |
exon_skip_138897 | chr10 | 126977948:126977988:126981918:126981973:126987521:126987617 | 126981918:126981973 |
exon_skip_159613 | chr10 | 127037719:127037816:127042625:127042714:127043064:127043164 | 127042625:127042714 |
exon_skip_162114 | chr10 | 126998092:126998249:126999354:126999435:127000172:127000307 | 126999354:126999435 |
exon_skip_188838 | chr10 | 127444126:127444279:127447394:127447545:127451332:127451465 | 127447394:127447545 |
exon_skip_229446 | chr10 | 127381278:127381368:127384790:127384909:127403055:127403144 | 127384790:127384909 |
exon_skip_232438 | chr10 | 127043064:127043164:127052681:127052815:127061668:127061776 | 127052681:127052815 |
exon_skip_256568 | chr10 | 127023200:127023324:127024685:127024783:127026352:127026424 | 127024685:127024783 |
exon_skip_276671 | chr10 | 126905456:126905563:126970702:126970785:126977948:126977988 | 126970702:126970785 |
exon_skip_39137 | chr10 | 126970702:126970785:126977948:126977988:126981918:126981973 | 126977948:126977988 |
exon_skip_943 | chr10 | 127018710:127018835:127023200:127023324:127024685:127024783 | 127023200:127023324 |
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 DOCK1 |
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 |
ENST00000280333 | 126981918 | 126981973 | Frame-shift |
ENST00000280333 | 126996748 | 126996883 | Frame-shift |
ENST00000280333 | 127000172 | 127000307 | Frame-shift |
ENST00000280333 | 127023200 | 127023324 | Frame-shift |
ENST00000280333 | 127061668 | 127061776 | Frame-shift |
ENST00000280333 | 127447394 | 127447545 | Frame-shift |
ENST00000280333 | 127018710 | 127018835 | In-frame |
ENST00000280333 | 127024685 | 127024783 | In-frame |
ENST00000280333 | 127052681 | 127052815 | In-frame |
ENST00000280333 | 127384790 | 127384909 | 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 |
ENST00000280333 | 126977948 | 126977988 | Frame-shift |
ENST00000280333 | 126999354 | 126999435 | Frame-shift |
ENST00000280333 | 127061668 | 127061776 | Frame-shift |
ENST00000280333 | 127384790 | 127384909 | 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 |
ENST00000280333 | 126981918 | 126981973 | Frame-shift |
ENST00000280333 | 127061668 | 127061776 | Frame-shift |
ENST00000280333 | 127447394 | 127447545 | Frame-shift |
ENST00000280333 | 127018710 | 127018835 | In-frame |
ENST00000280333 | 127024685 | 127024783 | In-frame |
ENST00000280333 | 127042625 | 127042714 | In-frame |
ENST00000280333 | 127052681 | 127052815 | In-frame |
ENST00000280333 | 127384790 | 127384909 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DOCK1 |
p-ENSG00000150760_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 |
ENST00000280333 | 6814 | 1865 | 127018710 | 127018835 | 1249 | 1373 | 380 | 421 |
ENST00000280333 | 6814 | 1865 | 127024685 | 127024783 | 1500 | 1597 | 463 | 496 |
ENST00000280333 | 6814 | 1865 | 127052681 | 127052815 | 2249 | 2382 | 713 | 757 |
ENST00000280333 | 6814 | 1865 | 127384790 | 127384909 | 3855 | 3973 | 1248 | 1288 |
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 |
ENST00000280333 | 6814 | 1865 | 127384790 | 127384909 | 3855 | 3973 | 1248 | 1288 |
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 |
ENST00000280333 | 6814 | 1865 | 127018710 | 127018835 | 1249 | 1373 | 380 | 421 |
ENST00000280333 | 6814 | 1865 | 127024685 | 127024783 | 1500 | 1597 | 463 | 496 |
ENST00000280333 | 6814 | 1865 | 127042625 | 127042714 | 2058 | 2146 | 649 | 679 |
ENST00000280333 | 6814 | 1865 | 127052681 | 127052815 | 2249 | 2382 | 713 | 757 |
ENST00000280333 | 6814 | 1865 | 127384790 | 127384909 | 3855 | 3973 | 1248 | 1288 |
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 |
Q14185 | 380 | 421 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
Q14185 | 463 | 496 | 493 | 499 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L4C |
Q14185 | 463 | 496 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
Q14185 | 463 | 496 | 425 | 609 | Domain | Note=DHR-1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00983 |
Q14185 | 713 | 757 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
Q14185 | 1248 | 1288 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
Q14185 | 1248 | 1288 | 1207 | 1617 | Domain | Note=DHR-2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00984 |
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 |
Q14185 | 1248 | 1288 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
Q14185 | 1248 | 1288 | 1207 | 1617 | Domain | Note=DHR-2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00984 |
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 |
Q14185 | 380 | 421 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
Q14185 | 463 | 496 | 493 | 499 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L4C |
Q14185 | 463 | 496 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
Q14185 | 463 | 496 | 425 | 609 | Domain | Note=DHR-1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00983 |
Q14185 | 649 | 679 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
Q14185 | 713 | 757 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
Q14185 | 1248 | 1288 | 1 | 1865 | Chain | ID=PRO_0000189984;Note=Dedicator of cytokinesis protein 1 |
Q14185 | 1248 | 1288 | 1207 | 1617 | Domain | Note=DHR-2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00984 |
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3'-UTR located exon skipping events that lost miRNA binding sites in DOCK1 |
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 DOCK1 |
- 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 DOCK1 |
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 |
ADstage | MSBB | IFG | exon_skip_10381 | 4.567947e-01 | 1.454160e-02 | chr10 | + | 126970702 | 126970785 | 126977534 | 126977717 | 126977948 | 126977988 |
CDR | MSBB | IFG | exon_skip_100187 | -4.068323e-01 | 3.167216e-02 | chr10 | + | 127052681 | 127052815 | 127061668 | 127061776 | 127106231 | 127106301 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DOCK1 |
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 DOCK1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for DOCK1 |
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 DOCK1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |