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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 DDB2 |
 Gene summary |
| Gene information | Gene symbol | DDB2 | Gene ID | 1643 |
| Gene name | damage specific DNA binding protein 2 | |
| Synonyms | DDBB|UV-DDB2|XPE | |
| Cytomap | 11p11.2 | |
| Type of gene | protein-coding | |
| Description | DNA damage-binding protein 2DDB p48 subunitUV-DDB 2UV-damaged DNA-binding protein 2damage-specific DNA binding protein 2, 48kDaxeroderma pigmentosum group E protein | |
| Modification date | 20200327 | |
| UniProtAcc | ||
| Context | - 26263968(Combination of Abeta Secretion and Oxidative Stress in an Alzheimer-Like Cell Line Leads to the Over-Expression of the Nucleotide Excision Repair Proteins DDB2 and XPC) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| DDB2 | GO:0000209 | protein polyubiquitination | 12732143 |
| DDB2 | GO:0009411 | response to UV | 12732143 |
| DDB2 | GO:0035518 | histone H2A monoubiquitination | 22334663 |
| DDB2 | GO:0051865 | protein autoubiquitination | 12732143 |
| DDB2 | GO:0070914 | UV-damage excision repair | 22334663 |
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Gene structures and expression levels for DDB2 |
| 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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ENSG00000134574
| 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 | UP | ENST00000614825.4 | DDB2-208:protein_coding:DDB2 | 1.389254e+00 | 1.624147e+00 | 1.115687e-03 | 5.663233e-03 |
| CB | UP | ENST00000617022.4 | DDB2-212:retained_intron:DDB2 | 4.234116e+00 | 1.355586e+00 | 1.203220e-02 | 4.040280e-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 DDB2 |
| 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_116567 | chr11 | 47234757:47234934:47235270:47235412:47237837:47237900 | 47235270:47235412 |
| exon_skip_134331 | chr11 | 47234627:47234672:47235270:47235412:47237837:47237900 | 47235270:47235412 |
| exon_skip_162125 | chr11 | 47232896:47232959:47233227:47233474:47234573:47234653 | 47233227:47233474 |
| exon_skip_172305 | chr11 | 47216913:47217049:47232814:47232959:47234573:47234653 | 47232814:47232959 |
| exon_skip_194007 | chr11 | 47235270:47235412:47237619:47237712:47237837:47237900 | 47237619:47237712 |
| exon_skip_2047 | chr11 | 47214570:47214674:47215073:47215263:47216336:47216472 | 47215073:47215263 |
| exon_skip_221831 | chr11 | 47234627:47234672:47234757:47235412:47237837:47237900 | 47234757:47235412 |
| exon_skip_296385 | chr11 | 47235280:47235412:47237619:47237712:47237837:47237900 | 47237619:47237712 |
| exon_skip_6147 | chr11 | 47234627:47234672:47234757:47234934:47235270:47235412 | 47234757:47234934 |
| exon_skip_83391 | chr11 | 47216929:47217049:47232814:47232959:47234573:47234653 | 47232814:47232959 |
| 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 DDB2 |
| 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 |
| ENST00000256996 | 47232814 | 47232959 | Frame-shift |
| ENST00000256996 | 47234757 | 47234934 | 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 |
| ENST00000256996 | 47232814 | 47232959 | Frame-shift |
| ENST00000256996 | 47234757 | 47234934 | 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 |
| ENST00000256996 | 47232814 | 47232959 | Frame-shift |
| ENST00000256996 | 47234757 | 47234934 | Frame-shift |
| ENST00000256996 | 47235270 | 47235412 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for DDB2 |
p-ENSG00000134574_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 DDB2 |
| 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 DDB2 |
| - 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 DDB2 |
| 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 DDB2 |
| 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 DDB2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TRA2A | exon_skip_6147 | -5.162987e-01 | 4.108537e-11 |
| TC | ELAVL4 | exon_skip_221831 | -4.302328e-01 | 6.813653e-07 |
| TC | RALYL | exon_skip_221831 | -4.340156e-01 | 5.299564e-07 |
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RelatedDrugs for DDB2 |
| 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 DDB2 |
| 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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