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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 DOCK8 |
Gene summary |
Gene information | Gene symbol | DOCK8 | Gene ID | 81704 |
Gene name | dedicator of cytokinesis 8 | |
Synonyms | HEL-205|MRD2|ZIR8 | |
Cytomap | 9p24.3 | |
Type of gene | protein-coding | |
Description | dedicator of cytokinesis protein 81200017A24Rikepididymis luminal protein 205 | |
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 |
DOCK8 | GO:0043547 | positive regulation of GTPase activity | 28028151 |
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Gene structures and expression levels for DOCK8 |
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 |
PG | UP | ENST00000479404.5 | DOCK8-212:protein_coding:DOCK8 | 1.891518e+00 | 8.788047e-01 | 3.487842e-03 | 3.548132e-02 |
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 DOCK8 |
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_10510 | chr9 | 311958:312166:317043:317128:325671:325737 | 317043:317128 |
exon_skip_118094 | chr9 | 214865:215029:220748:220863:271627:271729 | 220748:220863 |
exon_skip_123121 | chr9 | 214868:215029:271627:271729:286461:286636 | 271627:271729 |
exon_skip_15369 | chr9 | 368018:368135:369222:369447:370230:370300 | 369222:369447 |
exon_skip_195710 | chr9 | 370230:370300:371428:371566:372185:372286 | 371428:371566 |
exon_skip_256040 | chr9 | 428362:428496:429702:429854:432166:432324 | 429702:429854 |
exon_skip_82654 | chr9 | 382513:382685:386331:386426:390471:390566 | 386331:386426 |
exon_skip_90817 | chr9 | 340159:340321:365591:366552:368018:368135 | 365591:366552 |
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 DOCK8 |
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 |
ENST00000432829 | 271627 | 271729 | Frame-shift |
ENST00000432829 | 317043 | 317128 | Frame-shift |
ENST00000432829 | 371428 | 371566 | Frame-shift |
ENST00000432829 | 386331 | 386426 | In-frame |
ENST00000432829 | 429702 | 429854 | 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 |
ENST00000432829 | 271627 | 271729 | Frame-shift |
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 |
ENST00000432829 | 271627 | 271729 | Frame-shift |
ENST00000432829 | 317043 | 317128 | Frame-shift |
ENST00000432829 | 386331 | 386426 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DOCK8 |
p-ENSG00000107099_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 |
ENST00000432829 | 7469 | 2099 | 386331 | 386426 | 2892 | 2986 | 926 | 958 |
ENST00000432829 | 7469 | 2099 | 429702 | 429854 | 4587 | 4738 | 1491 | 1542 |
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 |
ENST00000432829 | 7469 | 2099 | 386331 | 386426 | 2892 | 2986 | 926 | 958 |
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 |
Q8NF50 | 926 | 958 | 927 | 958 | Alternative sequence | ID=VSP_027373;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NF50 | 926 | 958 | 1 | 2099 | Chain | ID=PRO_0000189997;Note=Dedicator of cytokinesis protein 8 |
Q8NF50 | 926 | 958 | 936 | 936 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q8NF50 | 1491 | 1542 | 1 | 2099 | Chain | ID=PRO_0000189997;Note=Dedicator of cytokinesis protein 8 |
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 |
Q8NF50 | 926 | 958 | 927 | 958 | Alternative sequence | ID=VSP_027373;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8NF50 | 926 | 958 | 1 | 2099 | Chain | ID=PRO_0000189997;Note=Dedicator of cytokinesis protein 8 |
Q8NF50 | 926 | 958 | 936 | 936 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
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3'-UTR located exon skipping events that lost miRNA binding sites in DOCK8 |
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 DOCK8 |
- 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 DOCK8 |
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 DOCK8 |
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 DOCK8 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for DOCK8 |
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 DOCK8 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |