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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 DNASE1L1 |
Gene summary |
Gene information | Gene symbol | DNASE1L1 | Gene ID | 1774 |
Gene name | deoxyribonuclease 1 like 1 | |
Synonyms | DNAS1L1|DNASEX|DNL1L|G4.8|XIB | |
Cytomap | Xq28 | |
Type of gene | protein-coding | |
Description | deoxyribonuclease-1-like 1DNase I, lysosomal-likeDNase I-like 1DNase I-like, muscle-specificdeoxyribonuclease I-like 1 | |
Modification date | 20200313 | |
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 |
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Gene structures and expression levels for DNASE1L1 |
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 |
TC | UP | ENST00000369807.6 | DNASE1L1-203:protein_coding:DNASE1L1 | 1.888539e+01 | 1.005778e+00 | 4.537823e-04 | 5.330983e-03 |
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 DNASE1L1 |
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_134621 | chrX | 154409112:154409196:154409418:154409813:154411891:154412083 | 154409418:154409813 |
exon_skip_140292 | chrX | 154409112:154409196:154409418:154409675:154411891:154412083 | 154409418:154409675 |
exon_skip_25524 | chrX | 154409112:154409196:154409418:154409813:154411891:154412089 | 154409418:154409813 |
exon_skip_257780 | chrX | 154405434:154405655:154409112:154409196:154411891:154412083 | 154409112:154409196 |
exon_skip_63857 | chrX | 154405489:154405655:154409112:154409196:154411891:154412083 | 154409112:154409196 |
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 DNASE1L1 |
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 |
ENST00000369809 | 154409418 | 154409675 | 3UTR-3UTR |
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 |
ENST00000369809 | 154409418 | 154409675 | 3UTR-3UTR |
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 |
ENST00000369809 | 154409418 | 154409675 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for DNASE1L1 |
p-ENSG00000013563_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 DNASE1L1 |
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 |
Mayo | ENST00000369809 | 154409418 | 154409675 | hsa-miR-6737-5p | chrX:154409581-154409588 | 8mer-1a | chrX:154409568-154409588 | 158.00 | -28.73 |
Mayo | ENST00000369809 | 154409418 | 154409675 | hsa-miR-1915-5p | chrX:154409439-154409446 | 8mer-1a | chrX:154409435-154409459 | 174.00 | -34.05 |
Mayo | ENST00000369809 | 154409418 | 154409675 | hsa-miR-6715b-5p | chrX:154409454-154409461 | 8mer-1a | chrX:154409444-154409461 | 154.00 | -25.67 |
Mayo | ENST00000369809 | 154409418 | 154409675 | hsa-miR-3944-5p | chrX:154409636-154409643 | 8mer-1a | chrX:154409627-154409646 | 164.00 | -28.22 |
Mayo | ENST00000369809 | 154409418 | 154409675 | hsa-miR-617 | chrX:154409551-154409558 | 8mer-1a | chrX:154409541-154409562 | 154.00 | -19.30 |
Mayo | ENST00000369809 | 154409418 | 154409675 | hsa-miR-342-5p | chrX:154409580-154409587 | 8mer-1a | chrX:154409568-154409588 | 158.00 | -28.73 |
Mayo | ENST00000369809 | 154409418 | 154409675 | hsa-miR-1539 | chrX:154409540-154409547 | 8mer-1a | chrX:154409530-154409552 | 155.00 | -29.80 |
Mayo | ENST00000369809 | 154409418 | 154409675 | hsa-miR-4267 | chrX:154409546-154409553 | 8mer-1a | chrX:154409541-154409562 | 154.00 | -19.30 |
Mayo | ENST00000369809 | 154409418 | 154409675 | hsa-miR-2355-5p | chrX:154409531-154409538 | 8mer-1a | chrX:154409530-154409552 | 155.00 | -29.80 |
Mayo | ENST00000369809 | 154409418 | 154409675 | hsa-miR-4269 | chrX:154409454-154409461 | 8mer-1a | chrX:154409444-154409461 | 154.00 | -25.67 |
Mayo | ENST00000369809 | 154409418 | 154409675 | hsa-miR-6812-5p | chrX:154409581-154409588 | 8mer-1a | chrX:154409568-154409588 | 158.00 | -28.73 |
Mayo | ENST00000369809 | 154409418 | 154409675 | hsa-miR-6819-5p | chrX:154409581-154409588 | 8mer-1a | chrX:154409568-154409588 | 158.00 | -28.73 |
Mayo | ENST00000369809 | 154409418 | 154409675 | hsa-miR-3144-5p | chrX:154409512-154409519 | 8mer-1a | chrX:154409498-154409521 | 162.00 | -33.08 |
Mayo | ENST00000369809 | 154409418 | 154409675 | hsa-miR-4664-5p | chrX:154409580-154409587 | 8mer-1a | chrX:154409568-154409588 | 158.00 | -28.73 |
MSBB | ENST00000369809 | 154409418 | 154409675 | hsa-miR-6737-5p | chrX:154409581-154409588 | 8mer-1a | chrX:154409568-154409588 | 158.00 | -28.73 |
MSBB | ENST00000369809 | 154409418 | 154409675 | hsa-miR-1915-5p | chrX:154409439-154409446 | 8mer-1a | chrX:154409435-154409459 | 174.00 | -34.05 |
MSBB | ENST00000369809 | 154409418 | 154409675 | hsa-miR-6715b-5p | chrX:154409454-154409461 | 8mer-1a | chrX:154409444-154409461 | 154.00 | -25.67 |
MSBB | ENST00000369809 | 154409418 | 154409675 | hsa-miR-3944-5p | chrX:154409636-154409643 | 8mer-1a | chrX:154409627-154409646 | 164.00 | -28.22 |
MSBB | ENST00000369809 | 154409418 | 154409675 | hsa-miR-617 | chrX:154409551-154409558 | 8mer-1a | chrX:154409541-154409562 | 154.00 | -19.30 |
MSBB | ENST00000369809 | 154409418 | 154409675 | hsa-miR-342-5p | chrX:154409580-154409587 | 8mer-1a | chrX:154409568-154409588 | 158.00 | -28.73 |
MSBB | ENST00000369809 | 154409418 | 154409675 | hsa-miR-1539 | chrX:154409540-154409547 | 8mer-1a | chrX:154409530-154409552 | 155.00 | -29.80 |
MSBB | ENST00000369809 | 154409418 | 154409675 | hsa-miR-4267 | chrX:154409546-154409553 | 8mer-1a | chrX:154409541-154409562 | 154.00 | -19.30 |
MSBB | ENST00000369809 | 154409418 | 154409675 | hsa-miR-2355-5p | chrX:154409531-154409538 | 8mer-1a | chrX:154409530-154409552 | 155.00 | -29.80 |
MSBB | ENST00000369809 | 154409418 | 154409675 | hsa-miR-4269 | chrX:154409454-154409461 | 8mer-1a | chrX:154409444-154409461 | 154.00 | -25.67 |
MSBB | ENST00000369809 | 154409418 | 154409675 | hsa-miR-6812-5p | chrX:154409581-154409588 | 8mer-1a | chrX:154409568-154409588 | 158.00 | -28.73 |
MSBB | ENST00000369809 | 154409418 | 154409675 | hsa-miR-6819-5p | chrX:154409581-154409588 | 8mer-1a | chrX:154409568-154409588 | 158.00 | -28.73 |
MSBB | ENST00000369809 | 154409418 | 154409675 | hsa-miR-3144-5p | chrX:154409512-154409519 | 8mer-1a | chrX:154409498-154409521 | 162.00 | -33.08 |
MSBB | ENST00000369809 | 154409418 | 154409675 | hsa-miR-4664-5p | chrX:154409580-154409587 | 8mer-1a | chrX:154409568-154409588 | 158.00 | -28.73 |
ROSMAP | ENST00000369809 | 154409418 | 154409675 | hsa-miR-6737-5p | chrX:154409581-154409588 | 8mer-1a | chrX:154409568-154409588 | 158.00 | -28.73 |
ROSMAP | ENST00000369809 | 154409418 | 154409675 | hsa-miR-1915-5p | chrX:154409439-154409446 | 8mer-1a | chrX:154409435-154409459 | 174.00 | -34.05 |
ROSMAP | ENST00000369809 | 154409418 | 154409675 | hsa-miR-6715b-5p | chrX:154409454-154409461 | 8mer-1a | chrX:154409444-154409461 | 154.00 | -25.67 |
ROSMAP | ENST00000369809 | 154409418 | 154409675 | hsa-miR-3944-5p | chrX:154409636-154409643 | 8mer-1a | chrX:154409627-154409646 | 164.00 | -28.22 |
ROSMAP | ENST00000369809 | 154409418 | 154409675 | hsa-miR-617 | chrX:154409551-154409558 | 8mer-1a | chrX:154409541-154409562 | 154.00 | -19.30 |
ROSMAP | ENST00000369809 | 154409418 | 154409675 | hsa-miR-342-5p | chrX:154409580-154409587 | 8mer-1a | chrX:154409568-154409588 | 158.00 | -28.73 |
ROSMAP | ENST00000369809 | 154409418 | 154409675 | hsa-miR-1539 | chrX:154409540-154409547 | 8mer-1a | chrX:154409530-154409552 | 155.00 | -29.80 |
ROSMAP | ENST00000369809 | 154409418 | 154409675 | hsa-miR-4267 | chrX:154409546-154409553 | 8mer-1a | chrX:154409541-154409562 | 154.00 | -19.30 |
ROSMAP | ENST00000369809 | 154409418 | 154409675 | hsa-miR-2355-5p | chrX:154409531-154409538 | 8mer-1a | chrX:154409530-154409552 | 155.00 | -29.80 |
ROSMAP | ENST00000369809 | 154409418 | 154409675 | hsa-miR-4269 | chrX:154409454-154409461 | 8mer-1a | chrX:154409444-154409461 | 154.00 | -25.67 |
ROSMAP | ENST00000369809 | 154409418 | 154409675 | hsa-miR-6812-5p | chrX:154409581-154409588 | 8mer-1a | chrX:154409568-154409588 | 158.00 | -28.73 |
ROSMAP | ENST00000369809 | 154409418 | 154409675 | hsa-miR-6819-5p | chrX:154409581-154409588 | 8mer-1a | chrX:154409568-154409588 | 158.00 | -28.73 |
ROSMAP | ENST00000369809 | 154409418 | 154409675 | hsa-miR-3144-5p | chrX:154409512-154409519 | 8mer-1a | chrX:154409498-154409521 | 162.00 | -33.08 |
ROSMAP | ENST00000369809 | 154409418 | 154409675 | hsa-miR-4664-5p | chrX:154409580-154409587 | 8mer-1a | chrX:154409568-154409588 | 158.00 | -28.73 |
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SNVs in the skipped exons for DNASE1L1 |
- 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 DNASE1L1 |
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 DNASE1L1 |
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 DNASE1L1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for DNASE1L1 |
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 DNASE1L1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |