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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 DPY30 |
 Gene summary |
| Gene information | Gene symbol | DPY30 | Gene ID | 84661 |
| Gene name | dpy-30 histone methyltransferase complex regulatory subunit | |
| Synonyms | Cps25|HDPY-30|Saf19 | |
| Cytomap | 2p22.3 | |
| Type of gene | protein-coding | |
| Description | protein dpy-30 homologdpy-30 homologdpy-30-like proteindpy-30L | |
| Modification date | 20200313 | |
| UniProtAcc | Q9C005, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| DPY30 | GO:0051568 | histone H3-K4 methylation | 19556245 |
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Gene structures and expression levels for DPY30 |
| 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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ENSG00000162961
| 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 DPY30 |
| 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_10321 | chr2 | 32023422:32023474:32023677:32023808:32029594:32029729 | 32023677:32023808 |
| exon_skip_111917 | chr2 | 32029594:32029736:32039279:32039326:32039421:32039492 | 32039279:32039326 |
| exon_skip_112817 | chr2 | 32023422:32023474:32029594:32029736:32039279:32039326 | 32029594:32029736 |
| exon_skip_11895 | chr2 | 32023677:32023808:32029594:32029736:32039279:32039326 | 32029594:32029736 |
| exon_skip_161144 | chr2 | 32024102:32024256:32029594:32029736:32039279:32039319 | 32029594:32029736 |
| exon_skip_201943 | chr2 | 32023422:32023474:32023677:32023808:32029594:32029619 | 32023677:32023808 |
| exon_skip_227179 | chr2 | 32011907:32012052:32023422:32023474:32029594:32029736 | 32023422:32023474 |
| exon_skip_230776 | chr2 | 32039279:32039326:32039421:32039492:32039733:32039754 | 32039421:32039492 |
| exon_skip_252283 | chr2 | 32023422:32023474:32023677:32023808:32029594:32029734 | 32023677:32023808 |
| exon_skip_287340 | chr2 | 32024102:32024256:32029594:32029736:32039279:32039326 | 32029594:32029736 |
| exon_skip_34033 | chr2 | 32023422:32023474:32023677:32023808:32029594:32029736 | 32023677:32023808 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_252283 | Mayo_CB | 5.574390e-01 | 6.940260e-01 | -1.365869e-01 | 1.186069e-03 |
| exon_skip_201943 | Mayo_TC | 4.751282e-01 | 5.928767e-01 | -1.177485e-01 | 8.765634e-04 |
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Open reading frame (ORF) annotation in the exon skipping event for DPY30 |
| 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 |
| ENST00000342166 | 32039421 | 32039492 | 3UTR-3CDS |
| ENST00000295066 | 32029594 | 32029736 | Frame-shift |
| ENST00000342166 | 32029594 | 32029736 | Frame-shift |
| 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 |
| ENST00000342166 | 32039421 | 32039492 | 3UTR-3CDS |
| ENST00000295066 | 32029594 | 32029736 | Frame-shift |
| ENST00000342166 | 32029594 | 32029736 | Frame-shift |
| ENST00000295066 | 32039279 | 32039326 | In-frame |
| ENST00000342166 | 32039279 | 32039326 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DPY30 |
p-ENSG00000162961_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 |
| 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 |
| ENST00000295066 | 648 | 99 | 32039279 | 32039326 | 286 | 332 | 12 | 27 |
| ENST00000342166 | 725 | 99 | 32039279 | 32039326 | 153 | 199 | 12 | 27 |
| 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 |
| 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 |
| Q9C005 | 12 | 27 | 1 | 99 | Chain | ID=PRO_0000114683;Note=Protein dpy-30 homolog |
| Q9C005 | 12 | 27 | 1 | 99 | Chain | ID=PRO_0000114683;Note=Protein dpy-30 homolog |
| Q9C005 | 12 | 27 | 19 | 19 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q9C005 | 12 | 27 | 19 | 19 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
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3'-UTR located exon skipping events that lost miRNA binding sites in DPY30 |
| 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 DPY30 |
| - 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 DPY30 |
| 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 DPY30 |
| 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 DPY30 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | U2AF2 | exon_skip_252283 | -5.065257e-01 | 9.627987e-12 |
| CB | CNOT4 | exon_skip_252283 | -4.469945e-01 | 3.496051e-09 |
| CB | HNRNPDL | exon_skip_252283 | 4.173392e-01 | 4.431274e-08 |
| CB | NUP42 | exon_skip_252283 | 4.858401e-01 | 8.499411e-11 |
| CB | RBM4B | exon_skip_252283 | -4.533258e-01 | 1.968272e-09 |
| TC | ELAVL4 | exon_skip_201943 | 4.681512e-01 | 1.349477e-09 |
| TC | ILF2 | exon_skip_201943 | 4.032016e-01 | 2.850768e-07 |
| TC | KHDRBS2 | exon_skip_201943 | 5.039653e-01 | 4.207335e-11 |
| TC | HNRNPDL | exon_skip_201943 | 4.439238e-01 | 1.134589e-08 |
| TC | HNRNPD | exon_skip_201943 | 4.614948e-01 | 2.462887e-09 |
| TC | NUP42 | exon_skip_201943 | 4.830170e-01 | 3.357641e-10 |
| TC | RALYL | exon_skip_201943 | 4.854860e-01 | 2.647673e-10 |
| TC | PTBP1 | exon_skip_201943 | -4.657419e-01 | 1.680290e-09 |
| TC | HNRNPH2 | exon_skip_201943 | 4.883093e-01 | 2.013157e-10 |
| TC | NOVA1 | exon_skip_201943 | 5.646335e-01 | 4.318638e-14 |
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RelatedDrugs for DPY30 |
| 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 DPY30 |
| 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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