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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 POLD1 |
 Gene summary |
| Gene information | Gene symbol | POLD1 | Gene ID | 5424 |
| Gene name | DNA polymerase delta 1, catalytic subunit | |
| Synonyms | CDC2|CRCS10|MDPL|POLD | |
| Cytomap | 19q13.33 | |
| Type of gene | protein-coding | |
| Description | DNA polymerase delta catalytic subunitCDC2 homologDNA polymerase subunit delta p125polymerase (DNA directed), delta 1, catalytic subunit 125kDapolymerase (DNA) delta 1, catalytic subunit | |
| Modification date | 20200329 | |
| 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 |
| POLD1 | GO:0000731 | DNA synthesis involved in DNA repair | 3335506 |
| POLD1 | GO:0006287 | base-excision repair, gap-filling | 10559260|10559261 |
| POLD1 | GO:0034644 | cellular response to UV | 24939902 |
| POLD1 | GO:0071897 | DNA biosynthetic process | 11595739 |
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Gene structures and expression levels for POLD1 |
| 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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ENSG00000062822
| 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 | ENST00000596221.1 | POLD1-206:retained_intron:POLD1 | 1.527251e+01 | -1.054257e+00 | 2.633447e-05 | 2.390497e-04 |
| CB | UP | ENST00000644560.1 | POLD1-215:protein_coding:POLD1 | 1.064445e+01 | 1.040791e+00 | 4.905655e-03 | 1.937170e-02 |
| TC | DOWN | ENST00000593981.1 | POLD1-204:protein_coding:POLD1 | 2.132615e+00 | -2.889876e+00 | 4.568892e-05 | 8.656443e-04 |
| TC | UP | ENST00000588943.1 | APOLD1-205:retained_intron:APOLD1 | 1.108536e+00 | 9.387641e-01 | 2.635904e-03 | 2.068862e-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 POLD1 |
| 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_121172 | chr19 | 50384344:50384390:50395025:50395150:50398851:50399053 | 50395025:50395150 |
| exon_skip_129237 | chr19 | 50409519:50409666:50410983:50411058:50413426:50413521 | 50410983:50411058 |
| exon_skip_174666 | chr19 | 50393975:50394063:50395025:50395150:50398851:50399053 | 50395025:50395150 |
| exon_skip_246311 | chr19 | 50416610:50416723:50417045:50417097:50417172:50417269 | 50417045:50417097 |
| exon_skip_267788 | chr19 | 50384373:50384390:50387660:50387804:50393975:50394063 | 50387660:50387804 |
| exon_skip_70532 | chr19 | 50415438:50415590:50415724:50415826:50416396:50416528 | 50415724:50415826 |
| exon_skip_97045 | chr19 | 50384373:50384390:50395025:50395150:50398851:50399053 | 50395025:50395150 |
| 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 POLD1 |
| 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 |
| ENST00000440232 | 50415724 | 50415826 | Frame-shift |
| ENST00000599857 | 50415724 | 50415826 | Frame-shift |
| ENST00000440232 | 50417045 | 50417097 | Frame-shift |
| ENST00000599857 | 50417045 | 50417097 | 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 |
| ENST00000440232 | 50415724 | 50415826 | Frame-shift |
| ENST00000599857 | 50415724 | 50415826 | 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 |
| ENST00000440232 | 50415724 | 50415826 | Frame-shift |
| ENST00000599857 | 50415724 | 50415826 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for POLD1 |
p-ENSG00000062822_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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in POLD1 |
| 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 POLD1 |
| - 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 POLD1 |
| 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 POLD1 |
| 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 POLD1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for POLD1 |
| 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 POLD1 |
| 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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