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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 DOCK3 |
Gene summary |
Gene information | Gene symbol | DOCK3 | Gene ID | 1795 |
Gene name | dedicator of cytokinesis 3 | |
Synonyms | MOCA|NEDIDHA|PBP | |
Cytomap | 3p21.2 | |
Type of gene | protein-coding | |
Description | dedicator of cytokinesis protein 3modifier of cell adhesionpresenilin-binding protein | |
Modification date | 20200313 | |
UniProtAcc | ||
Context | - 23641686(Dock3 interaction with a glutamate-receptor NR2D subunit protects neurons from excitotoxicity) |
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 DOCK3 |
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 DOCK3 |
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_107842 | chr3 | 51075356:51075440:51089243:51089284:51090230:51090384 | 51089243:51089284 |
exon_skip_107869 | chr3 | 51228661:51228832:51229512:51229609:51236345:51236428 | 51229512:51229609 |
exon_skip_115282 | chr3 | 51246726:51246807:51260156:51260326:51270815:51271007 | 51260156:51260326 |
exon_skip_121213 | chr3 | 51225649:51225773:51227283:51227445:51227982:51228088 | 51227283:51227445 |
exon_skip_157600 | chr3 | 50841675:50841715:50890026:50890081:50933981:50934077 | 50890026:50890081 |
exon_skip_163928 | chr3 | 51330138:51330223:51333001:51333027:51333158:51333253 | 51333001:51333027 |
exon_skip_180867 | chr3 | 50933985:50934077:51064448:51064596:51075356:51075440 | 51064448:51064596 |
exon_skip_181059 | chr3 | 50933981:50934077:51064448:51064596:51075356:51075440 | 51064448:51064596 |
exon_skip_18212 | chr3 | 51338359:51338419:51338935:51339028:51341237:51341385 | 51338935:51339028 |
exon_skip_191144 | chr3 | 51356089:51356255:51356407:51356493:51356962:51357141 | 51356407:51356493 |
exon_skip_194697 | chr3 | 51160555:51160702:51208774:51208862:51214122:51214247 | 51208774:51208862 |
exon_skip_236837 | chr3 | 51375748:51375835:51380125:51380207:51381050:51384198 | 51380125:51380207 |
exon_skip_249789 | chr3 | 51090230:51090384:51146549:51146630:51159244:51159304 | 51146549:51146630 |
exon_skip_251305 | chr3 | 51312476:51312576:51312844:51312902:51314980:51315128 | 51312844:51312902 |
exon_skip_26666 | chr3 | 51360511:51360632:51361859:51361997:51362527:51362674 | 51361859:51361997 |
exon_skip_282888 | chr3 | 51375748:51375835:51380125:51380207:51381050:51381146 | 51380125:51380207 |
exon_skip_28839 | chr3 | 51275079:51275206:51277608:51277754:51280106:51280204 | 51277608:51277754 |
exon_skip_59318 | chr3 | 51375748:51375835:51380125:51380207:51381050:51381345 | 51380125:51380207 |
exon_skip_68620 | chr3 | 51341237:51341385:51348852:51348938:51350288:51350392 | 51348852:51348938 |
exon_skip_69759 | chr3 | 51375748:51375835:51380125:51380207:51381050:51381591 | 51380125:51380207 |
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 DOCK3 |
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 |
ENST00000266037 | 50890026 | 50890081 | Frame-shift |
ENST00000266037 | 51064448 | 51064596 | Frame-shift |
ENST00000266037 | 51146549 | 51146630 | Frame-shift |
ENST00000266037 | 51208774 | 51208862 | Frame-shift |
ENST00000266037 | 51229512 | 51229609 | Frame-shift |
ENST00000266037 | 51380125 | 51380207 | Frame-shift |
ENST00000266037 | 51089243 | 51089284 | In-frame |
ENST00000266037 | 51260156 | 51260326 | In-frame |
ENST00000266037 | 51277608 | 51277754 | In-frame |
ENST00000266037 | 51333001 | 51333027 | In-frame |
ENST00000266037 | 51348852 | 51348938 | In-frame |
ENST00000266037 | 51356407 | 51356493 | 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 |
ENST00000266037 | 50890026 | 50890081 | Frame-shift |
ENST00000266037 | 51064448 | 51064596 | Frame-shift |
ENST00000266037 | 51229512 | 51229609 | Frame-shift |
ENST00000266037 | 51089243 | 51089284 | In-frame |
ENST00000266037 | 51260156 | 51260326 | In-frame |
ENST00000266037 | 51277608 | 51277754 | In-frame |
ENST00000266037 | 51333001 | 51333027 | In-frame |
ENST00000266037 | 51348852 | 51348938 | 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 |
ENST00000266037 | 50890026 | 50890081 | Frame-shift |
ENST00000266037 | 51064448 | 51064596 | Frame-shift |
ENST00000266037 | 51146549 | 51146630 | Frame-shift |
ENST00000266037 | 51227283 | 51227445 | Frame-shift |
ENST00000266037 | 51229512 | 51229609 | Frame-shift |
ENST00000266037 | 51312844 | 51312902 | Frame-shift |
ENST00000266037 | 51338935 | 51339028 | Frame-shift |
ENST00000266037 | 51361859 | 51361997 | Frame-shift |
ENST00000266037 | 51380125 | 51380207 | Frame-shift |
ENST00000266037 | 51089243 | 51089284 | In-frame |
ENST00000266037 | 51260156 | 51260326 | In-frame |
ENST00000266037 | 51277608 | 51277754 | In-frame |
ENST00000266037 | 51333001 | 51333027 | In-frame |
ENST00000266037 | 51348852 | 51348938 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DOCK3 |
p-ENSG00000088538_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 |
ENST00000266037 | 8772 | 2030 | 51089243 | 51089284 | 574 | 614 | 183 | 197 |
ENST00000266037 | 8772 | 2030 | 51260156 | 51260326 | 2209 | 2378 | 728 | 785 |
ENST00000266037 | 8772 | 2030 | 51277608 | 51277754 | 2701 | 2846 | 892 | 941 |
ENST00000266037 | 8772 | 2030 | 51348852 | 51348938 | 3940 | 4025 | 1305 | 1334 |
ENST00000266037 | 8772 | 2030 | 51356407 | 51356493 | 4441 | 4526 | 1472 | 1501 |
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 |
ENST00000266037 | 8772 | 2030 | 51089243 | 51089284 | 574 | 614 | 183 | 197 |
ENST00000266037 | 8772 | 2030 | 51260156 | 51260326 | 2209 | 2378 | 728 | 785 |
ENST00000266037 | 8772 | 2030 | 51277608 | 51277754 | 2701 | 2846 | 892 | 941 |
ENST00000266037 | 8772 | 2030 | 51348852 | 51348938 | 3940 | 4025 | 1305 | 1334 |
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 |
ENST00000266037 | 8772 | 2030 | 51089243 | 51089284 | 574 | 614 | 183 | 197 |
ENST00000266037 | 8772 | 2030 | 51260156 | 51260326 | 2209 | 2378 | 728 | 785 |
ENST00000266037 | 8772 | 2030 | 51277608 | 51277754 | 2701 | 2846 | 892 | 941 |
ENST00000266037 | 8772 | 2030 | 51348852 | 51348938 | 3940 | 4025 | 1305 | 1334 |
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 |
Q8IZD9 | 183 | 197 | 1 | 2030 | Chain | ID=PRO_0000189988;Note=Dedicator of cytokinesis protein 3 |
Q8IZD9 | 728 | 785 | 1 | 2030 | Chain | ID=PRO_0000189988;Note=Dedicator of cytokinesis protein 3 |
Q8IZD9 | 892 | 941 | 1 | 2030 | Chain | ID=PRO_0000189988;Note=Dedicator of cytokinesis protein 3 |
Q8IZD9 | 1305 | 1334 | 1 | 2030 | Chain | ID=PRO_0000189988;Note=Dedicator of cytokinesis protein 3 |
Q8IZD9 | 1305 | 1334 | 1228 | 1635 | Domain | Note=DHR-2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00984 |
Q8IZD9 | 1472 | 1501 | 1 | 2030 | Chain | ID=PRO_0000189988;Note=Dedicator of cytokinesis protein 3 |
Q8IZD9 | 1472 | 1501 | 1228 | 1635 | 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 |
Q8IZD9 | 183 | 197 | 1 | 2030 | Chain | ID=PRO_0000189988;Note=Dedicator of cytokinesis protein 3 |
Q8IZD9 | 728 | 785 | 1 | 2030 | Chain | ID=PRO_0000189988;Note=Dedicator of cytokinesis protein 3 |
Q8IZD9 | 892 | 941 | 1 | 2030 | Chain | ID=PRO_0000189988;Note=Dedicator of cytokinesis protein 3 |
Q8IZD9 | 1305 | 1334 | 1 | 2030 | Chain | ID=PRO_0000189988;Note=Dedicator of cytokinesis protein 3 |
Q8IZD9 | 1305 | 1334 | 1228 | 1635 | 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 |
Q8IZD9 | 183 | 197 | 1 | 2030 | Chain | ID=PRO_0000189988;Note=Dedicator of cytokinesis protein 3 |
Q8IZD9 | 728 | 785 | 1 | 2030 | Chain | ID=PRO_0000189988;Note=Dedicator of cytokinesis protein 3 |
Q8IZD9 | 892 | 941 | 1 | 2030 | Chain | ID=PRO_0000189988;Note=Dedicator of cytokinesis protein 3 |
Q8IZD9 | 1305 | 1334 | 1 | 2030 | Chain | ID=PRO_0000189988;Note=Dedicator of cytokinesis protein 3 |
Q8IZD9 | 1305 | 1334 | 1228 | 1635 | 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 DOCK3 |
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 DOCK3 |
- 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 DOCK3 |
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 DOCK3 |
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 DOCK3 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | HNRNPK | exon_skip_163928 | 4.456896e-01 | 1.226915e-08 |
CB | PCBP2 | exon_skip_163928 | 4.513994e-01 | 7.567007e-09 |
FL | HNRNPK | exon_skip_163928 | 4.376012e-01 | 3.044307e-10 |
HCC | RBM6 | exon_skip_163928 | -5.611877e-01 | 2.155307e-22 |
HCC | PCBP4 | exon_skip_163928 | -5.047191e-01 | 9.295387e-18 |
HCC | QKI | exon_skip_163928 | -5.977336e-01 | 6.736032e-26 |
HCC | SRSF5 | exon_skip_163928 | -4.120279e-01 | 8.675989e-12 |
IFG | QKI | exon_skip_163928 | -4.522265e-01 | 1.568736e-02 |
PCC | RBM6 | exon_skip_163928 | -4.980195e-01 | 1.716111e-13 |
PCC | PCBP4 | exon_skip_163928 | -5.186613e-01 | 1.105660e-14 |
PCC | QKI | exon_skip_163928 | -5.995924e-01 | 3.169127e-20 |
PCC | PABPC1 | exon_skip_163928 | -5.201433e-01 | 9.015519e-15 |
PG | PCBP1 | exon_skip_163928 | 4.363243e-01 | 1.242317e-08 |
PG | HNRNPK | exon_skip_163928 | 4.720683e-01 | 4.933859e-10 |
TC | RBM6 | exon_skip_163928 | -4.218322e-01 | 6.213938e-08 |
TC | MBNL1 | exon_skip_163928 | 4.711780e-01 | 8.986563e-10 |
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RelatedDrugs for DOCK3 |
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 DOCK3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |