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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 DGCR8 |
 Gene summary |
| Gene information | Gene symbol | DGCR8 | Gene ID | 54487 |
| Gene name | DGCR8 microprocessor complex subunit | |
| Synonyms | C22orf12|DGCRK6|Gy1|pasha | |
| Cytomap | 22q11.21 | |
| Type of gene | protein-coding | |
| Description | microprocessor complex subunit DGCR8DiGeorge syndrome critical region 8DiGeorge syndrome critical region gene 8 | |
| Modification date | 20200320 | |
| 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 |
| DGCR8 | GO:0031053 | primary miRNA processing | 15531877|15574589|24449907|24910438 |
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Gene structures and expression levels for DGCR8 |
| 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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ENSG00000128191
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000407755.1 | DGCR8-203:protein_coding:DGCR8 | 4.563683e+01 | -1.788363e+00 | 6.288341e-03 | 2.376208e-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 DGCR8 |
| 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_104996 | chr22 | 20094713:20094795:20106177:20106277:20106592:20106674 | 20106177:20106277 |
| exon_skip_118303 | chr22 | 20094713:20094795:20106177:20106277:20106592:20106685 | 20106177:20106277 |
| exon_skip_119145 | chr22 | 20091869:20091970:20092809:20092907:20094713:20094795 | 20092809:20092907 |
| exon_skip_56120 | chr22 | 20091871:20091970:20092809:20092907:20094713:20094795 | 20092809:20092907 |
| 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 DGCR8 |
| 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 |
| ENST00000351989 | 20106177 | 20106277 | Frame-shift |
| ENST00000351989 | 20092809 | 20092907 | 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 |
| 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 |
| ENST00000351989 | 20106177 | 20106277 | Frame-shift |
| ENST00000351989 | 20092809 | 20092907 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DGCR8 |
p-ENSG00000128191_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 |
| ENST00000351989 | 4531 | 773 | 20092809 | 20092907 | 2037 | 2134 | 536 | 568 |
| 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 |
| ENST00000351989 | 4531 | 773 | 20092809 | 20092907 | 2037 | 2134 | 536 | 568 |
| 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 |
| Q8WYQ5 | 536 | 568 | 305 | 773 | Alternative sequence | ID=VSP_003848;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q8WYQ5 | 536 | 568 | 536 | 568 | Alternative sequence | ID=VSP_012707;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8WYQ5 | 536 | 568 | 536 | 539 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X47 |
| Q8WYQ5 | 536 | 568 | 542 | 548 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YT4 |
| Q8WYQ5 | 536 | 568 | 551 | 560 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YT4 |
| Q8WYQ5 | 536 | 568 | 1 | 773 | Chain | ID=PRO_0000079878;Note=Microprocessor complex subunit DGCR8 |
| Q8WYQ5 | 536 | 568 | 511 | 578 | Domain | Note=DRBM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00266 |
| Q8WYQ5 | 536 | 568 | 561 | 576 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YT4 |
| Q8WYQ5 | 536 | 568 | 561 | 565 | Mutagenesis | Note=Strongly reduces pri-miRNA binding affinity. KKLAK->AALAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17704815;Dbxref=PMID:17704815 |
| Q8WYQ5 | 536 | 568 | 568 | 569 | Mutagenesis | Note=Reduces pri-miRNA binding affinity and pri-miRNA processing activity. Does not inhibit interaction with DROSHA. When associated with A-676 and S-677%2C strongly reduces binding affinity and pri-miRNA processing activity. AA->KK;Ontology_term=ECO:0000 |
| Q8WYQ5 | 536 | 568 | 276 | 751 | Region | Note=Necessary for heme-binding and pri-miRNA processing |
| 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 |
| Q8WYQ5 | 536 | 568 | 305 | 773 | Alternative sequence | ID=VSP_003848;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q8WYQ5 | 536 | 568 | 536 | 568 | Alternative sequence | ID=VSP_012707;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8WYQ5 | 536 | 568 | 536 | 539 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X47 |
| Q8WYQ5 | 536 | 568 | 542 | 548 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YT4 |
| Q8WYQ5 | 536 | 568 | 551 | 560 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YT4 |
| Q8WYQ5 | 536 | 568 | 1 | 773 | Chain | ID=PRO_0000079878;Note=Microprocessor complex subunit DGCR8 |
| Q8WYQ5 | 536 | 568 | 511 | 578 | Domain | Note=DRBM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00266 |
| Q8WYQ5 | 536 | 568 | 561 | 576 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YT4 |
| Q8WYQ5 | 536 | 568 | 561 | 565 | Mutagenesis | Note=Strongly reduces pri-miRNA binding affinity. KKLAK->AALAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17704815;Dbxref=PMID:17704815 |
| Q8WYQ5 | 536 | 568 | 568 | 569 | Mutagenesis | Note=Reduces pri-miRNA binding affinity and pri-miRNA processing activity. Does not inhibit interaction with DROSHA. When associated with A-676 and S-677%2C strongly reduces binding affinity and pri-miRNA processing activity. AA->KK;Ontology_term=ECO:0000 |
| Q8WYQ5 | 536 | 568 | 276 | 751 | Region | Note=Necessary for heme-binding and pri-miRNA processing |
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3'-UTR located exon skipping events that lost miRNA binding sites in DGCR8 |
| 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 DGCR8 |
| - 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 DGCR8 |
| 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 DGCR8 |
| 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 DGCR8 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for DGCR8 |
| 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 DGCR8 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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